206 results on '"Salem, Rany"'
Search Results
2. Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response
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Pagadala, Meghana, Sears, Timothy J., Wu, Victoria H., Pérez-Guijarro, Eva, Kim, Hyo, Castro, Andrea, Talwar, James V., Gonzalez-Colin, Cristian, Cao, Steven, Schmiedel, Benjamin J., Goudarzi, Shervin, Kirani, Divya, Au, Jessica, Zhang, Tongwu, Landi, Teresa, Salem, Rany M., Morris, Gerald P., Harismendy, Olivier, Patel, Sandip Pravin, Alexandrov, Ludmil B., Mesirov, Jill P., Zanetti, Maurizio, Day, Chi-Ping, Fan, Chun Chieh, Thompson, Wesley K., Merlino, Glenn, Gutkind, J. Silvio, Vijayanand, Pandurangan, and Carter, Hannah
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- 2023
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3. Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility
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Talwar, James V., Laub, David, Pagadala, Meghana S., Castro, Andrea, Lewis, McKenna, Luebeck, Georg E., Gorman, Bryan R., Pan, Cuiping, Dong, Frederick N., Markianos, Kyriacos, Teerlink, Craig C., Lynch, Julie, Hauger, Richard, Pyarajan, Saiju, Tsao, Philip S., Morris, Gerald P., Salem, Rany M., Thompson, Wesley K., Curtius, Kit, Zanetti, Maurizio, and Carter, Hannah
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- 2023
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4. The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
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Abecasis, Gonçalo, Akolkar, Beena, Alexander, Benjamin R., Allred, Nicholette D., Altshuler, David, Below, Jennifer E., Bergman, Richard, Beulens, Joline W.J., Blangero, John, Boehnke, Michael, Bokvist, Krister, Bottinger, Erwin, Boughton, Andrew P., Bowden, Donald, Brosnan, M. Julia, Brown, Christopher, Bruskiewicz, Kenneth, Burtt, Noël P., Carmichael, Mary, Caulkins, Lizz, Cebola, Inês, Chambers, John, Ida Chen, Yii-Der, Cherkas, Andriy, Chu, Audrey Y., Clark, Christopher, Claussnitzer, Melina, Costanzo, Maria C., Cox, Nancy J., Hoed, Marcel den, Dong, Duc, Duby, Marc, Duggirala, Ravindranath, Dupuis, Josée, Elders, Petra J.M., Engreitz, Jesse M., Fauman, Eric, Ferrer, Jorge, Flannick, Jason, Flicek, Paul, Flickinger, Matthew, Florez, Jose C., Fox, Caroline S., Frayling, Timothy M., Frazer, Kelly A., Gaulton, Kyle J., Gilbert, Clint, Gloyn, Anna L., Green, Todd, Hanis, Craig L., Hanson, Robert, Hattersley, Andrew T., Hoang, Quy, Im, Hae Kyung, Iqbal, Sidra, Jacobs, Suzanne B.R., Jang, Dong-Keun, Jordan, Tad, Kamphaus, Tania, Karpe, Fredrik, Keane, Thomas M., Kim, Seung K., Kluge, Alexandria, Koesterer, Ryan, Kudtarkar, Parul, Lage, Kasper, Lange, Leslie A., Lazar, Mitchell, Lehman, Donna, Liu, Ching-Ti, Loos, Ruth J.F., Ma, Ronald Ching-wan, MacDonald, Patrick, Massung, Jeffrey, Maurano, Matthew T., McCarthy, Mark I., McVean, Gil, Meigs, James B., Mercader, Josep M., Miller, Melissa R., Mitchell, Braxton, Mohlke, Karen L., Morabito, Samuel, Morgan, Claire, Mullican, Shannon, Narendra, Sharvari, Ng, Maggie C.Y., Nguyen, Lynette, Palmer, Colin N.A., Parker, Stephen C.J., Parrado, Antonio, Parsa, Afshin, Pawlyk, Aaron C., Pearson, Ewan R., Plump, Andrew, Province, Michael, Quertermous, Thomas, Redline, Susan, Reilly, Dermot F., Ren, Bing, Rich, Stephen S., Richards, J. Brent, Rotter, Jerome I., Ruebenacker, Oliver, Ruetten, Hartmut, Salem, Rany M., Sander, Maike, Sanders, Michael, Sanghera, Dharambir, Scott, Laura J., Sengupta, Sebanti, Siedzik, David, Sim, Xueling, Singh, Preeti, Sladek, Robert, Small, Kerrin, Smith, Philip, Stein, Peter, Spalding, Dylan, Stringham, Heather M., Sun, Ying, Susztak, Katalin, ’t Hart, Leen M., Taliun, Daniel, Taylor, Kent, Thomas, Melissa K., Todd, Jennifer A., Udler, Miriam S., Voight, Benjamin, von Grotthuss, Marcin, Wan, Andre, Welch, Ryan P., Wholley, David, Yuksel, Kaan, Zaghloul, Norann A., Jang, Dongkeun, Moriondo, Annie, Nguyen, Trang, Smadbeck, Patrick, Brandes, MacKenzie, Dornbos, Peter, Huellas-Bruskiewicz, Kenneth C., Ji, Yue, McMahon, Aoife C., Fauman, Eric B., Kamphaus, Tania Nayak, and Abecasis, Gonçalo R.
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- 2023
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5. Rare copy number variation in posttraumatic stress disorder
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Maihofer, Adam X., Engchuan, Worrawat, Huguet, Guillaume, Klein, Marieke, MacDonald, Jeffrey R., Shanta, Omar, Thiruvahindrapuram, Bhooma, Jean-louis, Martineau, Saci, Zohra, Jacquemont, Sebastien, Scherer, Stephen W., Ketema, Elizabeth, Aiello, Allison E., Amstadter, Ananda B., Avdibegović, Esmina, Babic, Dragan, Baker, Dewleen G., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bryant, Richard A., Bustamante, Angela C., Caldas-de-Almeida, Jose Miguel, Cardoso, Graça, Deckert, Jurgen, Delahanty, Douglas L., Domschke, Katharina, Dunlop, Boadie W., Dzubur-Kulenovic, Alma, Evans, Alexandra, Feeny, Norah C., Franz, Carol E., Gautam, Aarti, Geuze, Elbert, Goci, Aferdita, Hammamieh, Rasha, Jakovljevic, Miro, Jett, Marti, Jones, Ian, Kaufman, Milissa L., Kessler, Ronald C., King, Anthony P., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A. M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Mavissakalian, Matig R., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Morris, Charles Phillip, Muhie, Seid, Orcutt, Holly K., Peverill, Matthew, Ratanatharathorn, Andrew, Risbrough, Victoria B., Rizzo, Albert, Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rutten, Bart P. F., Schijven, Dick, Seng, Julia S., Sheerin, Christina M., Sorenson, Michael A., Teicher, Martin H., Uddin, Monica, Ursano, Robert J., Vinkers, Christiaan H., Voisey, Joanne, Weber, Heike, Winternitz, Sherry, Xavier, Miguel, Yang, Ruoting, McD Young, Ross, Zoellner, Lori A., Salem, Rany M., Shaffer, Richard A., Wu, Tianying, Ressler, Kerry J., Stein, Murray B., Koenen, Karestan C., Sebat, Jonathan, and Nievergelt, Caroline M.
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- 2022
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6. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study
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Maihofer, Adam X., Choi, Karmel W., Coleman, Jonathan R.I., Daskalakis, Nikolaos P., Denckla, Christy A., Ketema, Elizabeth, Morey, Rajendra A., Polimanti, Renato, Ratanatharathorn, Andrew, Torres, Katy, Wingo, Aliza P., Zai, Clement C., Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Borglum, Anders D., Babic, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Bradley, Bekh, Brashear, Meghan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas-de-Almeida, Jose Miguel, Chen, Chia-Yen, Dale, Anders M., Dalvie, Shareefa, Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Duncan, Laramie E., Kulenovic, Alma Dzubur, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gautam, Aarti, Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M.J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue-Jun, Karstoft, Karen-Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A.M., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica L., Marmar, Charles, Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., Mehta, Divya, Mellor, Rebecca, Michopoulos, Vasiliki, Milberg, William, Miller, Mark W., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben Bo, Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rung, Ariane, Rutten, Bart P.F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., Luella van den Heuvel, Leigh, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan, Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Yehuda, Rachel, Young, Keith A., Young, Ross McD., Zhao, Hongyu, Zoellner, Lori A., Haas, Magali, Lasseter, Heather, Provost, Allison C., Salem, Rany M., Sebat, Jonathan, Shaffer, Richard, Wu, Tianying, Ripke, Stephan, Daly, Mark J., Ressler, Kerry J., Koenen, Karestan C., Stein, Murray B., Nievergelt, Caroline M., Wendt, Frank R., Garcia-Argibay, Miguel, Cabrera-Mendoza, Brenda, Valdimarsdóttir, Unnur A., Nivard, Michel G., Larsson, Henrik, Mattheisen, Manuel, and Meier, Sandra M.
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- 2023
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7. Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
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Sandholm, Niina, Cole, Joanne B., Nair, Viji, Sheng, Xin, Liu, Hongbo, Ahlqvist, Emma, van Zuydam, Natalie, Dahlström, Emma H., Fermin, Damian, Smyth, Laura J., Salem, Rany M., Forsblom, Carol, Valo, Erkka, Harjutsalo, Valma, Brennan, Eoin P., McKay, Gareth J., Andrews, Darrell, Doyle, Ross, Looker, Helen C., Nelson, Robert G., Palmer, Colin, McKnight, Amy Jayne, Godson, Catherine, Maxwell, Alexander P., Groop, Leif, McCarthy, Mark I., Kretzler, Matthias, Susztak, Katalin, Hirschhorn, Joel N., Florez, Jose C., and Groop, Per-Henrik
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- 2022
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8. The association of higher offspring early‐childhood weight gain with prepregnancy metabolic and bariatric surgery.
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Hilaire, Maya‐Jean, Babcock, Annelise, White, Glenn, Masson, Cynthia F., Salem, Rany M., Reddy, Uma M., Gallagher, Dympna, LeDuc, Charles A., and Thaker, Vidhu V.
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WEIGHT gain ,LOW birth weight ,GESTATIONAL diabetes ,GROWTH of children ,SLEEVE gastrectomy ,GASTRIC bypass - Abstract
Objective: The objective of this study was to assess maternal gestational outcomes and offspring growth trajectories following prepregnancy metabolic and bariatric surgery (MBS) compared with non‐MBS controls. Methods: Single‐center deliveries between January 2020 and March 2023 with prepregnancy Roux‐en‐Y gastric bypass (herein referred to as "bypass"), sleeve gastrectomy (herein referred to as "sleeve"), and non‐MBS controls were included. Offspring growth trajectories were compared with the World Health Organization child growth standards. Linear mixed models assessed MBS‐bypass and MBS‐sleeve offspring weight, length, and BMI trajectories with a prepregnancy BMI 27 to 37 kg/m2 and propensity score‐matched controls. Results: The study included 440 participants with prepregnancy MBS (MBS‐bypass, 185; MBS‐sleeve, 225; 76% Hispanic/Latino) and 13,434 non‐MBS controls. Gestational weight gain and gestational diabetes mellitus were similar, whereas hypertensive disorders of pregnancy were more common after MBS. The post‐MBS offspring had lower birth weight but higher weight gain at 24 months (sleeve, +1.4 kg [95% CI: 1.0–1.9]; bypass, +0.5–0.7 kg [95% CI: 0.0–1.2]) compared with non‐MBS groups. Male children had higher weight gain than females. The post‐MBS‐sleeve but not the post‐MBS‐bypass offspring had higher BMI z scores. Conclusions: The higher early‐life weight gain and sex differences in the post‐MBS‐sleeve group compared with the post‐MBS‐bypass group provide a window toward elucidating pathways to mitigate intergenerational metabolic risk transfer. [ABSTRACT FROM AUTHOR]
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- 2024
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9. Markers of kidney function, genetic variation related to cognitive function, and cognitive performance in the UK Biobank
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Richard, Erin L., McEvoy, Linda K., Deary, Ian J., Davies, Gail, Cao, Steven Y., Oren, Eyal, Alcaraz, John E., LaCroix, Andrea Z., Bressler, Jan, and Salem, Rany M.
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- 2022
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10. Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease
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Smyth, Laura J., Dahlström, Emma H., Syreeni, Anna, Kerr, Katie, Kilner, Jill, Doyle, Ross, Brennan, Eoin, Nair, Viji, Fermin, Damian, Nelson, Robert G., Looker, Helen C., Wooster, Christopher, Andrews, Darrell, Anderson, Kerry, McKay, Gareth J., Cole, Joanne B., Salem, Rany M., Conlon, Peter J., Kretzler, Matthias, Hirschhorn, Joel N., Sadlier, Denise, Godson, Catherine, Florez, Jose C., Forsblom, Carol, Maxwell, Alexander P., Groop, Per-Henrik, Sandholm, Niina, and McKnight, Amy Jayne
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- 2022
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11. Biomarkers of kidney function and cognitive ability: A Mendelian randomization study
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Richard, Erin L., McEvoy, Linda K., Cao, Steven Y., Oren, Eyal, Alcaraz, John E., LaCroix, Andrea Z., and Salem, Rany M.
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- 2021
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12. Associations of Accelerometer-Measured Physical Activity and Sedentary Time With All-Cause Mortality by Genetic Predisposition for Longevity.
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Posis, Alexander Ivan B., Bellettiere, John, Salem, Rany M., LaMonte, Michael J., Manson, JoAnn E., Casanova, Ramon, LaCroix, Andrea Z., and Shadyab, Aladdin H.
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SEDENTARY lifestyles ,CAUSES of death ,ACTIVE aging ,MORTALITY ,MULTIVARIATE analysis ,ACCELEROMETERS ,ACCELEROMETRY ,PHYSICAL activity ,DISEASE susceptibility ,RESEARCH funding ,DESCRIPTIVE statistics ,LONGEVITY ,WOMEN'S health ,PROPORTIONAL hazards models - Abstract
The goal of this study was to examine associations between accelerometer-measured physical activity (PA) and sedentary time (ST) with mortality by a genetic risk score (GRS) for longevity. Among 5,446 women, (mean [SD]: age, 78.2 [6.6] years), 1,022 deaths were observed during 33,350 person-years of follow-up. Using multivariable Cox proportional hazards models, higher light PA and moderate to vigorous PA were associated with lower mortality across all GRS for longevity categories (low/medium/high; all p
trend <.001). Higher ST was associated with higher mortality (ptrend across all GRS categories <.001). Interaction tests for PA and ST with the GRS were not statistically significant. Findings support the importance of higher PA and lower ST for reducing mortality risk in older women, regardless of genetic predisposition for longevity. [ABSTRACT FROM AUTHOR]- Published
- 2023
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13. Interrogation of human hematopoiesis at single-cell and single-variant resolution
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Ulirsch, Jacob C., Lareau, Caleb A., Bao, Erik L., Ludwig, Leif S., Guo, Michael H., Benner, Christian, Satpathy, Ansuman T., Kartha, Vinay K., Salem, Rany M., Hirschhorn, Joel N., Finucane, Hilary K., Aryee, Martin J., Buenrostro, Jason D., and Sankaran, Vijay G.
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- 2019
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14. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms
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Guo, Michael H., Nandakumar, Satish K., Ulirsch, Jacob C., Zekavat, Seyedeh M., Buenrostro, Jason D., Natarajan, Pradeep, Salem, Rany M., Chiarle, Roberto, Mitt, Mario, Kals, Mart, Pärn, Kalle, Fischer, Krista, Milani, Lili, Mägi, Reedik, Palta, Priit, Gabriel, Stacey B., Metspalu, Andres, Lander, Eric S., Kathiresan, Sekar, Hirschhorn, Joel N., Esko, Tõnu, and Sankaran, Vijay G.
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- 2017
15. Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome.
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Zhu, Jia, Eliasen, Anders U, Aris, Izzuddin M, Stinson, Sara E, Holm, Jens-Christian, Hansen, Torben, Hivert, Marie-France, Bønnelykke, Klaus, Salem, Rany M, Hirschhorn, Joel N, and Chan, Yee-Ming
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POLYCYSTIC ovary syndrome ,GENETIC risk score ,BODY mass index - Abstract
Context Polycystic ovary syndrome (PCOS) has historically been conceptualized as a disorder of the reproductive system in women. However, offspring of women with PCOS begin to show metabolic features of PCOS in childhood, suggestive of childhood manifestations. Objective To identify childhood manifestations of genetic risk for PCOS. Methods We calculated a PCOS polygenic risk score (PRS) for 12 350 girls and boys in 4 pediatric cohorts—ALSPAC (UK), COPSAC (Denmark), Project Viva (USA), and The HOLBÆK Study (Denmark). We tested for association of the PRS with PCOS-related phenotypes throughout childhood and with age at pubarche and age at peak height velocity and meta-analyzed effects across cohorts using fixed-effect models. Results Higher PRS for PCOS was associated with higher body mass index in midchildhood (0.05 kg/m
2 increase per 1 SD of PRS, 95% CI 0.03, 0.07, P = 3 × 10−5 ) and higher risk of obesity in early childhood (OR 1.34, 95% CI 1.13, 1.59, P =.0009); both persisted through late adolescence (P all ≤.03). Higher PCOS PRS was associated with earlier age at pubarche (0.85-month decrease per 1 SD of PRS, 95% CI −1.44, −0.26, P =.005) and younger age at peak height velocity (0.64-month decrease per 1 SD of PRS, 95% CI −0.94, −0.33, P = 4 × 10−5 ). Conclusion Genetic risk factors for PCOS are associated with alterations in metabolic, growth, and developmental traits in childhood. Thus, PCOS may not simply be a condition that affects women of reproductive age but, rather, a possible manifestation of an underlying condition that affects both sexes starting in early life. [ABSTRACT FROM AUTHOR]- Published
- 2024
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16. Genetics of skeletal proportions in two different populations
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Bartell, Eric, Lin, Kuang, Tsuo, Kristin, Gan, Wei, Vedantam, Sailaja, Cole, Joanne B., Baronas, John M, Yengo, Loic, Marouli, Eirini, Amariuta, Tiffany, Chen, Zhengming, Li, Liming, Renthal, Nora E, Jacobsen, Christina M., Salem, Rany M, Walters, Robin G, and Hirschhorn, Joel N
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Article - Abstract
Human height can be divided into sitting height and leg length, reflecting growth of different parts of the skeleton whose relative proportions are captured by the ratio of sitting to total height (as sitting height ratio, SHR). Height is a highly heritable trait, and its genetic basis has been well-studied. However, the genetic determinants of skeletal proportion are much less well-characterized. Expanding substantially on past work, we performed a genome-wide association study (GWAS) of SHR in ∼450,000 individuals with European ancestry and ∼100,000 individuals with East Asian ancestry from the UK and China Kadoorie Biobanks. We identified 565 loci independently associated with SHR, including all genomic regions implicated in prior GWAS in these ancestries. While SHR loci largely overlap height-associated loci (P < 0.001), the fine-mapped SHR signals were often distinct from height. We additionally used fine-mapped signals to identify 36 credible sets with heterogeneous effects across ancestries. Lastly, we used SHR, sitting height, and leg length to identify genetic variation acting on specific body regions rather than on overall human height.
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- 2023
17. Differential methylation of telomere-related genes is associated with kidney disease in individuals with type 1 diabetes
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Hill, Claire, Duffy, Seamus, Kettyle, Laura M., McGlynn, Liane, Sandholm, Niina, Salem, Rany M., Thompson, Alex, Swan, Elizabeth J., Kilner, Jill, Rossing, Peter, Shiels, Paul G., Lajer, Maria, Groop, Per-Henrik, Maxwell, Peter, McKnight, Amy Jayne, and GENIE Consortium, on behalf of the
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SDG 3 - Good Health and Well-being - Abstract
Diabetic kidney disease (DKD) represents a major global health problem. Accelerated ageing is a key feature of DKD and, therefore, characteristics of accelerated ageing may provide useful biomarkers or therapeutic targets. Harnessing multi-omics, features affecting telomere biology and any associated methylome dysregulation in DKD were explored. Genotype data for nuclear genome polymorphisms in telomere-related genes were extracted from genome-wide case–control association data (n = 823 DKD/903 controls; n = 247 end-stage kidney disease (ESKD)/1479 controls). Telomere length was established using quantitative polymerase chain reaction. Quantitative methylation values for 1091 CpG sites in telomere-related genes were extracted from epigenome-wide case–control association data (n = 150 DKD/100 controls). Telomere length was significantly shorter in older age groups (p = 7.6 × 10−6). Telomere length was also significantly reduced (p = 6.6 × 10−5) in DKD versus control individuals, with significance remaining after covariate adjustment (p = 0.028). DKD and ESKD were nominally associated with telomere-related genetic variation, with Mendelian randomisation highlighting no significant association between genetically predicted telomere length and kidney disease. A total of 496 CpG sites in 212 genes reached epigenome-wide significance (p ≤ 10−8) for DKD association, and 412 CpG sites in 193 genes for ESKD. Functional prediction revealed differentially methylated genes were enriched for Wnt signalling involvement. Harnessing previously published RNA-sequencing datasets, potential targets where epigenetic dysregulation may result in altered gene expression were revealed, useful as potential diagnostic and therapeutic targets for intervention.
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- 2023
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18. Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
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Niina Sandholm, Cole, Joanne B., Viji Nair, Xin Sheng, Hongbo Liu, Emma Ahlqvist, Natalie Van Zuydam, Dahlström, Emma H., Damian Fermin, Laura Smyth, Salem, Rany M., Carol Forsblom, Erkka Valo, Valma Harjutsalo, Brennan, Eoin P., Mckay, Gareth J., Darrell Andrews, Ross Doyle, Helen Looker, Robert Nelson, Colin Palmer, Amy Jayne McKnight, Catherine Godson, Peter Maxwell, Leif Groop, Mark McCarthy, Matthias Kretzler, Katalin Susztak, Hirschhorn, Joel N., Florez, Jose C., Per-Henrik Groop, Research Programs Unit, Medicum, HUS Abdominal Center, University of Helsinki, Nefrologian yksikkö, CAMM - Research Program for Clinical and Molecular Metabolism, Clinicum, Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland, Leif Groop Research Group, Department of Medicine, Per Henrik Groop / Principal Investigator, and Department of Public Health
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EXPRESSION ,Genome-wide association study ,kidney ,NEPHROPATHY ,Endocrinology, Diabetes and Metabolism ,omic ,multiomic ,Protein Serine-Threonine Kinases ,Kidney ,Polymorphism, Single Nucleotide ,GLUCOSE ,Doublecortin-Like Kinases ,Diabetes complications ,SDG 3 - Good Health and Well-being ,Internal Medicine ,Genetics ,diabetic ,Humans ,GWAS ,Diabetic Nephropathies ,Diabetic kidney disease ,Transcriptomics ,TYPE-1 ,diabetes ,Intracellular Signaling Peptides and Proteins ,Fibrosis ,INSULIN ,Meta-analysis ,IA-2 ,Diabetes Mellitus, Type 2 ,3121 General medicine, internal medicine and other clinical medicine - Abstract
Aims/hypothesis Diabetic kidney disease (DKD) is the leading cause of kidney failure and has a substantial genetic component. Our aim was to identify novel genetic factors and genes contributing to DKD by performing meta-analysis of previous genome-wide association studies (GWAS) on DKD and by integrating the results with renal transcriptomics datasets. Methods We performed GWAS meta-analyses using ten phenotypic definitions of DKD, including nearly 27,000 individuals with diabetes. Meta-analysis results were integrated with estimated quantitative trait locus data from human glomerular (N=119) and tubular (N=121) samples to perform transcriptome-wide association study. We also performed gene aggregate tests to jointly test all available common genetic markers within a gene, and combined the results with various kidney omics datasets. Results The meta-analysis identified a novel intronic variant (rs72831309) in the TENM2 gene associated with a lower risk of the combined chronic kidney disease (eGFR2) and DKD (microalbuminuria or worse) phenotype (p=9.8×10−9; although not withstanding correction for multiple testing, p>9.3×10−9). Gene-level analysis identified ten genes associated with DKD (COL20A1, DCLK1, EIF4E, PTPRN–RESP18, GPR158, INIP–SNX30, LSM14A and MFF; p−6). Integration of GWAS with human glomerular and tubular expression data demonstrated higher tubular AKIRIN2 gene expression in individuals with vs without DKD (p=1.1×10−6). The lead SNPs within six loci significantly altered DNA methylation of a nearby CpG site in kidneys (p−11). Expression of lead genes in kidney tubules or glomeruli correlated with relevant pathological phenotypes (e.g. TENM2 expression correlated positively with eGFR [p=1.6×10−8] and negatively with tubulointerstitial fibrosis [p=2.0×10−9], tubular DCLK1 expression correlated positively with fibrosis [p=7.4×10−16], and SNX30 expression correlated positively with eGFR [p=5.8×10−14] and negatively with fibrosis [p−16]). Conclusions/interpretation Altogether, the results point to novel genes contributing to the pathogenesis of DKD. Data availability The GWAS meta-analysis results can be accessed via the type 1 and type 2 diabetes (T1D and T2D, respectively) and Common Metabolic Diseases (CMD) Knowledge Portals, and downloaded on their respective download pages (https://t1d.hugeamp.org/downloads.html; https://t2d.hugeamp.org/downloads.html; https://hugeamp.org/downloads.html). Graphical abstract
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- 2022
19. The Genetic Landscape of Renal Complications in Type 1 Diabetes
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Sandholm, Niina, Van Zuydam, Natalie, Ahlqvist, Emma, Juliusdottir, Thorhildur, Deshmukh, Harshal A., Rayner, N. William, Di Camillo, Barbara, Forsblom, Carol, Fadista, Joao, Ziemek, Daniel, Salem, Rany M., Hiraki, Linda T., Pezzolesi, Marcus, Trégouët, David, Dahlström, Emma, Valo, Erkka, Oskolkov, Nikolay, Ladenvall, Claes, Marcovecchio, M. Loredana, Cooper, Jason, Sambo, Francesco, Malovini, Alberto, Manfrini, Marco, McKnight, Amy Jayne, Lajer, Maria, Harjutsalo, Valma, Gordin, Daniel, Parkkonen, Maija, Lyssenko, Valeriya, McKeigue, Paul M., Rich, Stephen S., Brosnan, Mary Julia, Fauman, Eric, Bellazzi, Riccardo, Rossing, Peter, Hadjadj, Samy, Krolewski, Andrzej, Paterson, Andrew D., Hirschhorn, Joel N., Maxwell, Alexander P., Cobelli, Claudio, Colhoun, Helen M., Groop, Leif, McCarthy, Mark I., Groop, Per-Henrik, Sandholm, N., Van Zuydam, N., Ahlqvist, E., Juliusdottir, T., Deshmukh, H.A., Di Camillo, B., Forsblom, C., Fadista, J., Ziemek, D., Salem, R.M., Hiraki, L.T., Pezzolesi, M., Trégouët, D., Dahlström, E., Valo, E., Oskolkov, N., Ladenvall, C., Marcovecchio, M.L., Cooper, J., Sambo, F., Malovini, A., Manfrini, M., McKnight, A. J., Lajer, M., V, Gordin, D., Parkkonen, M., Tuomilehto, J., V, McKeigue, P.M., Rich, S.S., Brosnan, M.J., Fauman, E., Bellazzi, R., Rossing, P., Hadjadj, S., Krolewski, A., Paterson, A.D., Florez, J.C., Hirschhorn, J.N., Maxwell, A.P., Dunger, D., Cobelli, C., Colhoun, H.M., Groop, L., McCarthy, M.I., and Groop, P.-H.
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- 2017
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20. Novel genetic susceptibility loci for diabetic end-stage renal disease identified through robust naive Bayes classification
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Sambo, Francesco, Malovini, Alberto, Sandholm, Niina, Stavarachi, Monica, Forsblom, Carol, Mäkinen, Ville-Petteri, Harjutsalo, Valma, Lithovius, Raija, Gordin, Daniel, Parkkonen, Maija, Saraheimo, Markku, Thorn, Lena M., Tolonen, Nina, Wadén, Johan, He, Bing, Österholm, Anne-May, Tuomilehto, Jaako, Lajer, Maria, Salem, Rany M., McKnight, Amy Jayne, Tarnow, Lise, Panduru, Nicolae M., Barbarini, Nicola, Di Camillo, Barbara, Toffolo, Gianna M., Tryggvason, Karl, Bellazzi, Riccardo, Cobelli, Claudio, Groop, Per-Henrik, The GENIE Consortium, and The FinnDiane Study Group
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- 2014
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21. A comprehensive literature review of haplotyping software and methods for use with unrelated individuals
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Salem Rany M, Wessel Jennifer, and Schork Nicholas J
- Subjects
haplotype ,haplotyping ,genetic variation ,phase ,algorithm ,software ,Medicine ,Genetics ,QH426-470 - Abstract
Abstract Interest in the assignment and frequency analysis of haplotypes in samples of unrelated individuals has increased immeasurably as a result of the emphasis placed on haplotype analyses by, for example, the International HapMap Project and related initiatives. Although there are many available computer programs for haplotype analysis applicable to samples of unrelated individuals, many of these programs have limitations and/or very specific uses. In this paper, the key features of available haplotype analysis software for use with unrelated individuals, as well as pooled DNA samples from unrelated individuals, are summarised. Programs for haplotype analysis were identified through keyword searches on PUBMED and various internet search engines, a review of citations from retrieved papers and personal communications, up to June 2004. Priority was given to functioning computer programs, rather than theoretical models and methods. The available software was considered in light of a number of factors: the algorithm(s) used, algorithm accuracy, assumptions, the accommodation of genotyping error, implementation of hypothesis testing, handling of missing data, software characteristics and web-based implementations. Review papers comparing specific methods and programs are also summarised. Forty-six haplotyping programs were identified and reviewed. The programs were divided into two groups: those designed for individual genotype data (a total of 43 programs) and those designed for use with pooled DNA samples (a total of three programs). The accuracy of programs using various criteria are assessed and the programs are categorised and discussed in light of: algorithm and method, accuracy, assumptions, genotyping error, hypothesis testing, missing data, software characteristics and web implementation. Many available programs have limitations (eg some cannot accommodate missing data) and/or are designed with specific tasks in mind (eg estimating haplotype frequencies rather than assigning most likely haplotypes to individuals). It is concluded that the selection of an appropriate haplotyping program for analysis purposes should be guided by what is known about the accuracy of estimation, as well as by the limitations and assumptions built into a program.
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- 2005
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22. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease
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Todd, Jennifer N., Dahlström, Emma H., Salem, Rany M., Sandholm, Niina, Forsblom, Carol, McKnight, Amy J., Maxwell, Alexander P., Brennan, Eoin, Sadlier, Denise, Godson, Catherine, Groop, Per-Henrik, Hirschhorn, Joel N., and Florez, Jose C.
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- 2015
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23. Directional dominance on stature and cognition in diverse human populations
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Joshi, Peter K., Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne U., Schurmann, Claudia, Smith, Albert V., Zhang, Weihua, Okada, Yukinori, Stančáková, Alena, Faul, Jessica D., Zhao, Wei, Bartz, Traci M., Concas, Maria Pina, Franceschini, Nora, Enroth, Stefan, Vitart, Veronique, Trompet, Stella, Guo, Xiuqing, Chasman, Daniel I., OʼConnel, Jeffrey R., Corre, Tanguy, Nongmaithem, Suraj S., Chen, Yuning, Mangino, Massimo, Ruggiero, Daniela, Traglia, Michela, Farmaki, Aliki-Eleni, Kacprowski, Tim, Bjonnes, Andrew, van der Spek, Ashley, Wu, Ying, Giri, Anil K., Yanek, Lisa R., Wang, Lihua, Hofer, Edith, Rietveld, Cornelius A., McLeod, Olga, Cornelis, Marilyn C., Pattaro, Cristian, Verweij, Niek, Baumbach, Clemens, Abdellaoui, Abdel, Warren, Helen R., Vuckovic, Dragana, Mei, Hao, Bouchard, Claude, Perry, John R. B., Cappellani, Stefania, Mirza, Saira S., Benton, Miles C., Broeckel, Ulrich, Medland, Sarah E., Lind, Penelope A., Malerba, Giovanni, Drong, Alexander, Yengo, Loic, Bielak, Lawrence F., Zhi, Degui, van der Most, Peter J., Shriner, Daniel, Mägi, Reedik, Hemani, Gibran, Karaderi, Tugce, Wang, Zhaoming, Liu, Tian, Demuth, Ilja, Zhao, Jing Hua, Meng, Weihua, Lataniotis, Lazaros, van der Laan, Sander W., Bradfield, Jonathan P., Wood, Andrew R., Bonnefond, Amelie, Ahluwalia, Tarunveer S., Hall, Leanne M., Salvi, Erika, Yazar, Seyhan, Carstensen, Lisbeth, de Haan, Hugoline G., Abney, Mark, Afzal, Uzma, Allison, Matthew A., Amin, Najaf, Asselbergs, Folkert W., Bakker, Stephan J. L., Barr, Graham R., Baumeister, Sebastian E., Benjamin, Daniel J., Bergmann, Sven, Boerwinkle, Eric, Bottinger, Erwin P., Campbell, Archie, Chakravarti, Aravinda, Chan, Yingleong, Chanock, Stephen J., Chen, Constance, Chen, Ida Y.-D., Collins, Francis S., Connell, John, Correa, Adolfo, Cupples, Adrienne L., Smith, George Davey, Davies, Gail, Dörr, Marcus, Ehret, Georg, Ellis, Stephen B., Feenstra, Bjarke, Feitosa, Mary F., Ford, Ian, Fox, Caroline S., Frayling, Timothy M., Friedrich, Nele, Geller, Frank, Scotland, Generation, Gillham-Nasenya, Irina, Gottesman, Omri, Graff, Misa, Grodstein, Francine, Gu, Charles, Haley, Chris, Hammond, Christopher J., Harris, Sarah E., Harris, Tamara B., Hastie, Nicholas D., Heard-Costa, Nancy L., Heikkilä, Kauko, Hocking, Lynne J., Homuth, Georg, Hottenga, Jouke-Jan, Huang, Jinyan, Huffman, Jennifer E., Hysi, Pirro G., Ikram, Arfan M., Ingelsson, Erik, Joensuu, Anni, Johansson, Åsa, Jousilahti, Pekka, Jukema, Wouter J., Kähönen, Mika, Kamatani, Yoichiro, Kanoni, Stavroula, Kerr, Shona M., Khan, Nazir M., Koellinger, Philipp, Koistinen, Heikki A., Kooner, Manraj K., Kubo, Michiaki, Kuusisto, Johanna, Lahti, Jari, Launer, Lenore J., Lea, Rodney A., Lehne, Benjamin, Lehtimäki, Terho, Liewald, David C.M., Lind, Lars, Loh, Marie, Lokki, Marja-Liisa, London, Stephanie J., Loomis, Stephanie J., Loukola, Anu, Lu, Yingchang, Lumley, Thomas, Lundqvist, Annamari, Männistö, Satu, Marques-Vidal, Pedro, Masciullo, Corrado, Matchan, Angela, Mathias, Rasika A., Matsuda, Koichi, Meigs, James B., Meisinger, Christa, Meitinger, Thomas, Menni, Cristina, Mentch, Frank D., Mihailov, Evelin, Milani, Lili, Montasser, May E., Montgomery, Grant W., Morrison, Alanna, Myers, Richard H., Nadukuru, Rajiv, Navarro, Pau, Nelis, Mari, Nieminen, Markku S., Nolte, Ilja M., OʼConnor, George T., Ogunniyi, Adesola, Padmanabhan, Sandosh, Palmas, Walter R., Pankow, James S., Patarcic, Inga, Pavani, Francesca, Peyser, Patricia A., Pietilainen, Kirsi, Poulter, Neil, Prokopenko, Inga, Ralhan, Sarju, Redmond, Paul, Rich, Stephen S., Rissanen, Harri, Robino, Antonietta, Rose, Lynda M., Rose, Richard, Sala, Cinzia, Salako, Babatunde, Salomaa, Veikko, Sarin, Antti-Pekka, Saxena, Richa, Schmidt, Helena, Scott, Laura J., Scott, William R., Sennblad, Bengt, Seshadri, Sudha, Sever, Peter, Shrestha, Smeeta, Smith, Blair H., Smith, Jennifer A., Soranzo, Nicole, Sotoodehnia, Nona, Southam, Lorraine, Stanton, Alice V., Stathopoulou, Maria G., Strauch, Konstantin, Strawbridge, Rona J., Suderman, Matthew J., Tandon, Nikhil, Tang, Sian-Tsun, Taylor, Kent D., Tayo, Bamidele O., Töglhofer, Anna Maria, Tomaszewski, Maciej, Tšernikova, Natalia, Tuomilehto, Jaakko, Uitterlinden, Andre G., Vaidya, Dhananjay, van Hylckama Vlieg, Astrid, van Setten, Jessica, Vasankari, Tuula, Vedantam, Sailaja, Vlachopoulou, Efthymia, Vozzi, Diego, Vuoksimaa, Eero, Waldenberger, Melanie, Ware, Erin B., Wentworth-Shields, William, Whitfield, John B., Wild, Sarah, Willemsen, Gonneke, Yajnik, Chittaranjan S., Yao, Jie, Zaza, Gianluigi, Zhu, Xiaofeng, Salem, Rany M., Melbye, Mads, Bisgaard, Hans, Samani, Nilesh J., Cusi, Daniele, Mackey, David A., Cooper, Richard S., Froguel, Philippe, Pasterkamp, Gerard, Grant, Struan F.A., Hakonarson, Hakon, Ferrucci, Luigi, Scott, Robert A., Morris, Andrew D., Palmer, Colin N. A., Dedoussis, George, Deloukas, Panos, Bertram, Lars, Lindenberger, Ulman, Berndt, Sonja I., Lindgren, Cecilia M., Timpson, Nicholas J., Tönjes, Anke, Munroe, Patricia B., Sørensen, Thorkild I. A., Rotimi, Charles N., Arnett, Donna K., Oldehinkel, Albertine J., Kardia, Sharon L. R., Balkau, Beverley, Gambaro, Giovanni, Morris, Andrew P., Eriksson, Johan G., Wright, Margie J., Martin, Nicholas G., Hunt, Steven C., Starr, John M., Deary, Ian J., Griffiths, Lyn R., Tiemeier, Henning, Pirastu, Nicola, Kaprio, Jaakko, Wareham, Nicholas J., Pérusse, Louis, Wilson, James G., Girotto, Giorgia, Caulfield, Mark J., Raitakari, Olli, Boomsma, Dorret I., Gieger, Christian, van der Harst, Pim, Hicks, Andrew A., Kraft, Peter, Sinisalo, Juha, Knekt, Paul, Johannesson, Magnus, Magnusson, Patrik K. E., Hamsten, Anders, Schmidt, Reinhold, Borecki, Ingrid B., Vartiainen, Erkki, Becker, Diane M., Bharadwaj, Dwaipayan, Mohlke, Karen L., Boehnke, Michael, van Duijn, Cornelia M., Sanghera, Dharambir K., Teumer, Alexander, Zeggini, Eleftheria, Metspalu, Andres, Gasparini, Paolo, Ulivi, Sheila, Ober, Carole, Toniolo, Daniela, Rudan, Igor, Porteous, David J., Ciullo, Marina, Spector, Tim D., Hayward, Caroline, Dupuis, Josée, Loos, Ruth J. F., Wright, Alan F., Chandak, Giriraj R., Vollenweider, Peter, Shuldiner, Alan R., Ridker, Paul M., Rotter, Jerome I., Sattar, Naveed, Gyllensten, Ulf, North, Kari E., Pirastu, Mario, Psaty, Bruce M., Weir, David R., Laakso, Markku, Gudnason, Vilmundur, Takahashi, Atsushi, Chambers, John C., Kooner, Jaspal S., Strachan, David P., Campbell, Harry, Hirschhorn, Joel N., Perola, Markus, Polašek, Ozren, and Wilson, James F.
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- 2015
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24. Genetic studies of body mass index yield new insights for obesity biology
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Locke, Adam E., Kahali, Bratati, Berndt, Sonja I., Justice, Anne E., Pers, Tune H., Day, Felix R., Powell, Corey, Vedantam, Sailaja, Buchkovich, Martin L., Yang, Jian, Croteau-Chonka, Damien C., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Kutalik, Zoltán, Luan, Jianʼan, Mägi, Reedik, Randall, Joshua C., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Faul, Jessica D., Smith, Jennifer A., Hua Zhao, Jing, Zhao, Wei, Chen, Jin, Fehrmann, Rudolf, Hedman, Åsa K., Karjalainen, Juha, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bolton, Jennifer L., Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Deng, Guohong, Ehret, Georg B., Feenstra, Bjarke, Feitosa, Mary F., Fischer, Krista, Goel, Anuj, Gong, Jian, Jackson, Anne U., Kanoni, Stavroula, Kleber, Marcus E., Kristiansson, Kati, Lim, Unhee, Lotay, Vaneet, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Medland, Sarah E., Nalls, Michael A., Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Shungin, Dmitry, Stančáková, Alena, Strawbridge, Rona J., Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Trompet, Stella, van der Laan, Sander W., van Setten, Jessica, Van Vliet-Ostaptchouk, Jana V., Wang, Zhaoming, Yengo, Loïc, Zhang, Weihua, Isaacs, Aaron, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Attwood, Antony P., Bandinelli, Stefania, Barrett, Amy, Bas, Isabelita N., Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blagieva, Roza, Blüher, Matthias, Böhringer, Stefan, Bonnycastle, Lori L., Böttcher, Yvonne, Boyd, Heather A., Bruinenberg, Marcel, Caspersen, Ida H., Ida Chen, Yii-Der, Clarke, Robert, Warwick Daw, E., de Craen, Anton J. M., Delgado, Graciela, Dimitriou, Maria, Doney, Alex S. F., Eklund, Niina, Estrada, Karol, Eury, Elodie, Folkersen, Lasse, Fraser, Ross M., Garcia, Melissa E., Geller, Frank, Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Goodall, Alison H., Gordon, Scott D., Gorski, Mathias, Grabe, Hans-Jörgen, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grönberg, Henrik, Groves, Christopher J., Gusto, Gaëlle, Haessler, Jeffrey, Hall, Per, Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heard-Costa, Nancy L., Helmer, Quinta, Hengstenberg, Christian, Holmen, Oddgeir, Hottenga, Jouke-Jan, James, Alan L., Jeff, Janina M., Johansson, Åsa, Jolley, Jennifer, Juliusdottir, Thorhildur, Kinnunen, Leena, Koenig, Wolfgang, Koskenvuo, Markku, Kratzer, Wolfgang, Laitinen, Jaana, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Sin Lo, Ken, Lobbens, Stéphane, Lorbeer, Roberto, Lu, Yingchang, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., McLachlan, Stela, Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Moayyeri, Alireza, Monda, Keri L., Morken, Mario A., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Musk, Arthur W., Nagaraja, Ramaiah, Nöthen, Markus M., Nolte, Ilja M., Pilz, Stefan, Rayner, Nigel W., Renstrom, Frida, Rettig, Rainer, Ried, Janina S., Ripke, Stephan, Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Schumacher, Fredrick R., Scott, William R., Seufferlein, Thomas, Shi, Jianxin, Vernon Smith, Albert, Smolonska, Joanna, Stanton, Alice V., Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tan, Sian-Tsung, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tyrer, Jonathan P., Uh, Hae-Won, Vandenput, Liesbeth, Verhulst, Frank C., Vermeulen, Sita H., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Warren, Helen R., Waterworth, Dawn, Weedon, Michael N., Wilkens, Lynne R., Willenborg, Christina, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Wright, Alan F., Zhang, Qunyuan, Brennan, Eoin P., Choi, Murim, Dastani, Zari, Drong, Alexander W., Eriksson, Per, Franco-Cereceda, Anders, Gådin, Jesper R., Gharavi, Ali G., Goddard, Michael E., Handsaker, Robert E., Huang, Jinyan, Karpe, Fredrik, Kathiresan, Sekar, Keildson, Sarah, Kiryluk, Krzysztof, Kubo, Michiaki, Lee, Jong-Young, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McCarroll, Steven A., McKnight, Amy J., Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Okada, Yukinori, Perry, John R. B., Dorajoo, Rajkumar, Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Scott, Robert A., Stolk, Lisette, Takahashi, Atsushi, Tanaka, Toshihiro, vanʼt Hooft, Ferdinand M., Vinkhuyzen, Anna A. E., Westra, Harm-Jan, Zheng, Wei, Zondervan, Krina T., Heath, Andrew C., Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Bovet, Pascal, Campbell, Harry, Caulfield, Mark J., Cesana, Giancarlo, Chakravarti, Aravinda, Chasman, Daniel I., Chines, Peter S., Collins, Francis S., Crawford, Dana C., Adrienne Cupples, L., Cusi, Daniele, Danesh, John, de Faire, Ulf, den Ruijter, Hester M., Dominiczak, Anna F., Erbel, Raimund, Erdmann, Jeanette, Eriksson, Johan G., Farrall, Martin, Felix, Stephan B., Ferrannini, Ele, Ferrières, Jean, Ford, Ian, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gejman, Pablo V., Gieger, Christian, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hall, Alistair S., Harris, Tamara B., Hattersley, Andrew T., Hicks, Andrew A., Hindorff, Lucia A., Hingorani, Aroon D., Hofman, Albert, Homuth, Georg, Kees Hovingh, G., Humphries, Steve E., Hunt, Steven C., Hyppönen, Elina, Illig, Thomas, Jacobs, Kevin B., Jarvelin, Marjo-Riitta, Jöckel, Karl-Heinz, Johansen, Berit, Jousilahti, Pekka, Wouter Jukema, J., Jula, Antti M., Kaprio, Jaakko, Kastelein, John J. P., Keinanen-Kiukaanniemi, Sirkka M., Kiemeney, Lambertus A., Knekt, Paul, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Moll, Frans L., Morris, Andrew D., Morris, Andrew P., Murray, Jeffrey C., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Madden, Pamela A. F., Pasterkamp, Gerard, Peden, John F., Peters, Annette, Postma, Dirkje S., Pramstaller, Peter P., Price, Jackie F., Qi, Lu, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Rioux, John D., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schunkert, Heribert, Schwarz, Peter E. H., Sever, Peter, Shuldiner, Alan R., Sinisalo, Juha, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Trégouët, David-Alexandre, Tremblay, Angelo, Tremoli, Elena, Virtamo, Jarmo, Vohl, Marie-Claude, Völker, Uwe, Waeber, Gérard, Willemsen, Gonneke, Witteman, Jacqueline C., Carola Zillikens, M., Adair, Linda S., Amouyel, Philippe, Asselbergs, Folkert W., Assimes, Themistocles L., Bochud, Murielle, Boehm, Bernhard O., Boerwinkle, Eric, Bornstein, Stefan R., Bottinger, Erwin P., Bouchard, Claude, Cauchi, Stéphane, Chambers, John C., Chanock, Stephen J., Cooper, Richard S., de Bakker, Paul I. W., Dedoussis, George, Ferrucci, Luigi, Franks, Paul W., Froguel, Philippe, Groop, Leif C., Haiman, Christopher A., Hamsten, Anders, Hui, Jennie, Hunter, David J., Hveem, Kristian, Kaplan, Robert C., Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, Martin, Nicholas G., März, Winfried, Melbye, Mads, Metspalu, Andres, Moebus, Susanne, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sattar, Naveed, Schadt, Eric E., Schlessinger, David, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Walker, Mark, Wallaschofski, Henri, Wareham, Nicholas J., Watkins, Hugh, Weir, David R., Wichmann, H-Erich, Wilson, James F., Zanen, Pieter, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Heid, Iris M., OʼConnell, Jeffrey R., Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Abecasis, Gonçalo R., Franke, Lude, Frayling, Timothy M., McCarthy, Mark I., Visscher, Peter M., Scherag, André, Willer, Cristen J., Boehnke, Michael, Mohlke, Karen L., Lindgren, Cecilia M., Beckmann, Jacques S., Barroso, Inês, North, Kari E., Ingelsson, Erik, Hirschhorn, Joel N., Loos, Ruth J. F., and Speliotes, Elizabeth K.
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- 2015
- Full Text
- View/download PDF
25. New genetic loci link adipose and insulin biology to body fat distribution
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Shungin, Dmitry, Winkler, Thomas W., Croteau-Chonka, Damien C., Ferreira, Teresa, Locke, Adam E., Mägi, Reedik, Strawbridge, Rona J., Pers, Tune H., Fischer, Krista, Justice, Anne E., Workalemahu, Tsegaselassie, Wu, Joseph M. W., Buchkovich, Martin L., Heard-Costa, Nancy L., Roman, Tamara S., Drong, Alexander W., Song, Ci, Gustafsson, Stefan, Day, Felix R., Esko, Tonu, Fall, Tove, Kutalik, Zoltán, Luan, Jianʼan, Randall, Joshua C., Scherag, André, Vedantam, Sailaja, Wood, Andrew R., Chen, Jin, Fehrmann, Rudolf, Karjalainen, Juha, Kahali, Bratati, Liu, Ching-Ti, Schmidt, Ellen M., Absher, Devin, Amin, Najaf, Anderson, Denise, Beekman, Marian, Bragg-Gresham, Jennifer L., Buyske, Steven, Demirkan, Ayse, Ehret, Georg B., Feitosa, Mary F., Goel, Anuj, Jackson, Anne U., Johnson, Toby, Kleber, Marcus E., Kristiansson, Kati, Mangino, Massimo, Mateo Leach, Irene, Medina-Gomez, Carolina, Palmer, Cameron D., Pasko, Dorota, Pechlivanis, Sonali, Peters, Marjolein J., Prokopenko, Inga, Stančáková, Alena, Ju Sung, Yun, Tanaka, Toshiko, Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V., Yengo, Loïc, Zhang, Weihua, Albrecht, Eva, Ärnlöv, Johan, Arscott, Gillian M., Bandinelli, Stefania, Barrett, Amy, Bellis, Claire, Bennett, Amanda J., Berne, Christian, Blüher, Matthias, Böhringer, Stefan, Bonnet, Fabrice, Böttcher, Yvonne, Bruinenberg, Marcel, Carba, Delia B., Caspersen, Ida H., Clarke, Robert, Warwick Daw, E., Deelen, Joris, Deelman, Ewa, Delgado, Graciela, Doney, Alex S. F., Eklund, Niina, Erdos, Michael R., Estrada, Karol, Eury, Elodie, Friedrich, Nele, Garcia, Melissa E., Giedraitis, Vilmantas, Gigante, Bruna, Go, Alan S., Golay, Alain, Grallert, Harald, Grammer, Tanja B., Gräler, Jürgen, Grewal, Jagvir, Groves, Christopher J., Haller, Toomas, Hallmans, Goran, Hartman, Catharina A., Hassinen, Maija, Hayward, Caroline, Heikkilä, Kauko, Herzig, Karl-Heinz, Helmer, Quinta, Hillege, Hans L., Holmen, Oddgeir, Hunt, Steven C., Isaacs, Aaron, Ittermann, Till, James, Alan L., Johansson, Ingegerd, Juliusdottir, Thorhildur, Kalafati, Ioanna-Panagiota, Kinnunen, Leena, Koenig, Wolfgang, Kooner, Ishminder K., Kratzer, Wolfgang, Lamina, Claudia, Leander, Karin, Lee, Nanette R., Lichtner, Peter, Lind, Lars, Lindström, Jaana, Lobbens, Stéphane, Lorentzon, Mattias, Mach, François, Magnusson, Patrik K. E., Mahajan, Anubha, McArdle, Wendy L., Menni, Cristina, Merger, Sigrun, Mihailov, Evelin, Milani, Lili, Mills, Rebecca, Moayyeri, Alireza, Monda, Keri L., Mooijaart, Simon P., Mühleisen, Thomas W., Mulas, Antonella, Müller, Gabriele, Müller-Nurasyid, Martina, Nagaraja, Ramaiah, Nalls, Michael A., Narisu, Narisu, Glorioso, Nicola, Nolte, Ilja M., Olden, Matthias, Rayner, Nigel W., Renstrom, Frida, Ried, Janina S., Robertson, Neil R., Rose, Lynda M., Sanna, Serena, Scharnagl, Hubert, Scholtens, Salome, Sennblad, Bengt, Seufferlein, Thomas, Sitlani, Colleen M., Vernon Smith, Albert, Stirrups, Kathleen, Stringham, Heather M., Sundström, Johan, Swertz, Morris A., Swift, Amy J., Syvänen, Ann-Christine, Tayo, Bamidele O., Thorand, Barbara, Thorleifsson, Gudmar, Tomaschitz, Andreas, Troffa, Chiara, van Oort, Floor V. A., Verweij, Niek, Vonk, Judith M., Waite, Lindsay L., Wennauer, Roman, Wilsgaard, Tom, Wojczynski, Mary K., Wong, Andrew, Zhang, Qunyuan, Hua Zhao, Jing, Brennan, Eoin P., Choi, Murim, Eriksson, Per, Folkersen, Lasse, Franco-Cereceda, Anders, Gharavi, Ali G., Hedman, Åsa K., Hivert, Marie-France, Huang, Jinyan, Kanoni, Stavroula, Karpe, Fredrik, Keildson, Sarah, Kiryluk, Krzysztof, Liang, Liming, Lifton, Richard P., Ma, Baoshan, McKnight, Amy J., McPherson, Ruth, Metspalu, Andres, Min, Josine L., Moffatt, Miriam F., Montgomery, Grant W., Murabito, Joanne M., Nicholson, George, Nyholt, Dale R., Olsson, Christian, Perry, John R. B., Reinmaa, Eva, Salem, Rany M., Sandholm, Niina, Schadt, Eric E., Scott, Robert A., Stolk, Lisette, Vallejo, Edgar E., Westra, Harm-Jan, Zondervan, Krina T., Amouyel, Philippe, Arveiler, Dominique, Bakker, Stephan J. L., Beilby, John, Bergman, Richard N., Blangero, John, Brown, Morris J., Burnier, Michel, Campbell, Harry, Chakravarti, Aravinda, Chines, Peter S., Claudi-Boehm, Simone, Collins, Francis S., Crawford, Dana C., Danesh, John, de Faire, Ulf, de Geus, Eco J. C., Dörr, Marcus, Erbel, Raimund, Eriksson, Johan G., Farrall, Martin, Ferrannini, Ele, Ferrières, Jean, Forouhi, Nita G., Forrester, Terrence, Franco, Oscar H., Gansevoort, Ron T., Gieger, Christian, Gudnason, Vilmundur, Haiman, Christopher A., Harris, Tamara B., Hattersley, Andrew T., Heliövaara, Markku, Hicks, Andrew A., Hingorani, Aroon D., Hoffmann, Wolfgang, Hofman, Albert, Homuth, Georg, Humphries, Steve E., Hyppönen, Elina, Illig, Thomas, Jarvelin, Marjo-Riitta, Johansen, Berit, Jousilahti, Pekka, Jula, Antti M., Kaprio, Jaakko, Kee, Frank, Keinanen-Kiukaanniemi, Sirkka M., Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Lakka, Timo A., Langenberg, Claudia, Le Marchand, Loic, Lehtimäki, Terho, Lyssenko, Valeriya, Männistö, Satu, Marette, André, Matise, Tara C., McKenzie, Colin A., McKnight, Barbara, Musk, Arthur W., Möhlenkamp, Stefan, Morris, Andrew D., Nelis, Mari, Ohlsson, Claes, Oldehinkel, Albertine J., Ong, Ken K., Palmer, Lyle J., Penninx, Brenda W., Peters, Annette, Pramstaller, Peter P., Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Ridker, Paul M., Ritchie, Marylyn D., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Saramies, Jouko, Sarzynski, Mark A., Schwarz, Peter E. H., Shuldiner, Alan R., Staessen, Jan A., Steinthorsdottir, Valgerdur, Stolk, Ronald P., Strauch, Konstantin, Tönjes, Anke, Tremblay, Angelo, Tremoli, Elena, Vohl, Marie-Claude, Völker, Uwe, Vollenweider, Peter, Wilson, James F., Witteman, Jacqueline C., Adair, Linda S., Bochud, Murielle, Boehm, Bernhard O., Bornstein, Stefan R., Bouchard, Claude, Cauchi, Stéphane, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Cooper, Richard S., Dedoussis, George, Ferrucci, Luigi, Froguel, Philippe, Grabe, Hans-Jörgen, Hamsten, Anders, Hui, Jennie, Hveem, Kristian, Jöckel, Karl-Heinz, Kivimaki, Mika, Kuh, Diana, Laakso, Markku, Liu, Yongmei, März, Winfried, Munroe, Patricia B., Njølstad, Inger, Oostra, Ben A., Palmer, Colin N. A., Pedersen, Nancy L., Perola, Markus, Pérusse, Louis, Peters, Ulrike, Power, Chris, Quertermous, Thomas, Rauramaa, Rainer, Rivadeneira, Fernando, Saaristo, Timo E., Saleheen, Danish, Sinisalo, Juha, Eline Slagboom, P., Snieder, Harold, Spector, Tim D., Thorsteinsdottir, Unnur, Stumvoll, Michael, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van der Harst, Pim, Veronesi, Giovanni, Walker, Mark, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H-Erich, Abecasis, Goncalo R., Assimes, Themistocles L., Berndt, Sonja I., Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Franke, Lude, Frayling, Timothy M., Groop, Leif C., Hunter, David J., Kaplan, Robert C., OʼConnell, Jeffrey R., Qi, Lu, Schlessinger, David, Strachan, David P., Stefansson, Kari, van Duijn, Cornelia M., Willer, Cristen J., Visscher, Peter M., Yang, Jian, Hirschhorn, Joel N., Carola Zillikens, M., McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Fox, Caroline S., Barroso, Inês, Franks, Paul W., Ingelsson, Erik, Heid, Iris M., Loos, Ruth J. F., Cupples, Adrienne L., Morris, Andrew P., Lindgren, Cecilia M., and Mohlke, Karen L
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- 2015
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26. Heritability of Nonalcoholic Fatty Liver Disease
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Schwimmer, Jeffrey B., Celedon, Manuel A., Lavine, Joel E., Salem, Rany, Campbell, Nzali, Schork, Nicholas J., Shiehmorteza, Masoud, Yokoo, Takeshi, Chavez, Alyssa, Middleton, Michael S., and Sirlin, Claude B.
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- 2009
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27. Naturally Occurring Human Genetic Variation in the 3′-Untranslated Region of the Secretory Protein Chromogranin A Is Associated With Autonomic Blood Pressure Regulation and Hypertension in a Sex-Dependent Fashion
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Chen, Yuqing, Rao, Fangwen, Rodriguez-Flores, Juan L., Mahata, Manjula, Fung, Maple M., Stridsberg, Mats, Vaingankar, Sucheta M., Wen, Gen, Salem, Rany M., Das, Madhusudan, Cockburn, Myles G., Schork, Nicholas J., Ziegler, Michael G., Hamilton, Bruce A., Mahata, Sushil K., Taupenot, Laurent, and O'Connor, Daniel T.
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- 2008
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28. Naturally Occurring Genetic Variants in Human Chromogranin A (CHGA) Associated with Hypertension as well as Hypertensive Renal Disease
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Chen, Yuqing, Rao, Fangwen, Wen, Gen, Gayen, Jiaur R., Zhang, Kuixing, Vaingankar, Sucheta M., Biswas, Nilima, Mahata, Manjula, Friese, Ryan S., Fung, Maple M., Salem, Rany M., Nievergelt, Caroline, Bhatnagar, Vibha, Hook, Vivian Y., Ziegler, Michael G., Mahata, Sushil K., Hamilton, Bruce A., and O’Connor, Daniel T.
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- 2010
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29. The VA hypertension primary care longitudinal cohort: electronic medical records in the post-genomic era
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Salem, Rany M., Pandey, Braj, Richard, Erin, Fung, Maple M., Garcia, Erin P., Brophy, Victoria H., Schork, Nicholas J., O'Connor, Daniel T., and Bhatnagar, Vibha
- Subjects
Hypertension -- Care and treatment ,Hypertension -- Genetic aspects ,Hypertension -- Diagnosis ,Medical records -- Usage ,Electronic records -- Usage ,Primary health care -- Management ,Primary health care -- Technology application ,DNA -- Analysis ,Company business management ,Technology application ,Computers and office automation industries ,Health - Published
- 2010
30. MicroRNA-22 and promoter motif polymorphisms at the Chga locus in genetic hypertension: functional and therapeutic implications for gene expression and the pathogenesis of hypertension
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Friese, Ryan S., Altshuler, Angelina E., Zhang, Kuixing, Miramontes-Gonzalez, Jose Pablo, Hightower, C. Makena, Jirout, Martin L., Salem, Rany M., Gayen, Jiaur R., Mahapatra, Nitish R., Biswas, Nilima, Cale, Mo, Vaingankar, Sucheta M., Kim, Hyung-Suk, Courel, Maïté, Taupenot, Laurent, Ziegler, Michael G., Schork, Nicholas J., Pravenec, Michal, Mahata, Sushil K., Schmid-Schönbein, Geert W., and OʼConnor, Daniel T.
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- 2013
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31. Association Testing of Previously Reported Variants in a Large Case-Control Meta-analysis of Diabetic Nephropathy
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Williams, Winfred W., Salem, Rany M., McKnight, Amy Jayne, Sandholm, Niina, Forsblom, Carol, Taylor, Andrew, Guiducci, Candace, McAteer, Jarred B., McKay, Gareth J., Isakova, Tamara, Brennan, Eoin P., Sadlier, Denise M., Palmer, Cameron, Söderlund, Jenny, Fagerholm, Emma, Harjutsalo, Valma, Lithovius, Raija, Gordin, Daniel, Hietala, Kustaa, Kytö, Janne, Parkkonen, Maija, Rosengård-Bärlund, Milla, Thorn, Lena, Syreeni, Anna, Tolonen, Nina, Saraheimo, Markku, Wadén, Johan, Pitkäniemi, Janne, Sarti, Cinzia, Tuomilehto, Jaakko, Tryggvason, Karl, Österholm, Anne-May, He, Bing, Bain, Steve, Martin, Finian, Godson, Catherine, Hirschhorn, Joel N., Maxwell, Alexander P., Groop, Per-Henrik, and Florez, Jose C.
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- 2012
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32. Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC)
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Fung, Maple M., Salem, Rany M., Lipkowitz, Michael S., Bhatnagar, Vibha, Pandey, Braj, Schork, Nicholas J., and O’Connor, Daniel T.
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- 2012
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33. Hundreds of variants clustered in genomic loci and biological pathways affect human height
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Lango Allen, Hana, Estrada, Karol, Lettre, Guillaume, Berndt, Sonja I., Weedon, Michael N., Rivadeneira, Fernando, Willer, Cristen J., Jackson, Anne U., Vedantam, Sailaja, Raychaudhuri, Soumya, Ferreira, Teresa, Wood, Andrew R., Weyant, Robert J., Segrè, Ayellet V., Speliotes, Elizabeth K., Wheeler, Eleanor, Soranzo, Nicole, Park, Ju-Hyun, Yang, Jian, Gudbjartsson, Daniel, Heard-Costa, Nancy L., Randall, Joshua C., Qi, Lu, Vernon Smith, Albert, Mägi, Reedik, Pastinen, Tomi, Liang, Liming, Heid, Iris M., Luan, Jian’an, Thorleifsson, Gudmar, Winkler, Thomas W., Goddard, Michael E., Sin Lo, Ken, Palmer, Cameron, Workalemahu, Tsegaselassie, Aulchenko, Yurii S., Johansson, Åsa, Carola Zillikens, M., Feitosa, Mary F., Esko, Tõnu, Johnson, Toby, Ketkar, Shamika, Kraft, Peter, Mangino, Massimo, Prokopenko, Inga, Absher, Devin, Albrecht, Eva, Ernst, Florian, Glazer, Nicole L., Hayward, Caroline, Hottenga, Jouke-Jan, Jacobs, Kevin B., Knowles, Joshua W., Kutalik, Zoltán, Monda, Keri L., Polasek, Ozren, Preuss, Michael, Rayner, Nigel W., Robertson, Neil R., Steinthorsdottir, Valgerdur, Tyrer, Jonathan P., Voight, Benjamin F., Wiklund, Fredrik, Xu, Jianfeng, Hua Zhao, Jing, Nyholt, Dale R., Pellikka, Niina, Perola, Markus, Perry, John R. B., Surakka, Ida, Tammesoo, Mari-Liis, Altmaier, Elizabeth L., Amin, Najaf, Aspelund, Thor, Bhangale, Tushar, Boucher, Gabrielle, Chasman, Daniel I., Chen, Constance, Coin, Lachlan, Cooper, Matthew N., Dixon, Anna L., Gibson, Quince, Grundberg, Elin, Hao, Ke, Juhani Junttila, M., Kaplan, Lee M., Kettunen, Johannes, König, Inke R., Kwan, Tony, Lawrence, Robert W., Levinson, Douglas F., Lorentzon, Mattias, McKnight, Barbara, Morris, Andrew P., Müller, Martina, Suh Ngwa, Julius, Purcell, Shaun, Rafelt, Suzanne, Salem, Rany M., Salvi, Erika, Sanna, Serena, Shi, Jianxin, Sovio, Ulla, Thompson, John R., Turchin, Michael C., Vandenput, Liesbeth, Verlaan, Dominique J., Vitart, Veronique, White, Charles C., Ziegler, Andreas, Almgren, Peter, Balmforth, Anthony J., Campbell, Harry, Citterio, Lorena, De Grandi, Alessandro, Dominiczak, Anna, Duan, Jubao, Elliott, Paul, Elosua, Roberto, Eriksson, Johan G., Freimer, Nelson B., Geus, Eco J. C., Glorioso, Nicola, Haiqing, Shen, Hartikainen, Anna-Liisa, Havulinna, Aki S., Hicks, Andrew A., Hui, Jennie, Igl, Wilmar, Illig, Thomas, Jula, Antti, Kajantie, Eero, Kilpeläinen, Tuomas O., Koiranen, Markku, Kolcic, Ivana, Koskinen, Seppo, Kovacs, Peter, Laitinen, Jaana, Liu, Jianjun, Lokki, Marja-Liisa, Marusic, Ana, Maschio, Andrea, Meitinger, Thomas, Mulas, Antonella, Paré, Guillaume, Parker, Alex N., Peden, John F., Petersmann, Astrid, Pichler, Irene, Pietiläinen, Kirsi H., Pouta, Anneli, Ridderstråle, Martin, Rotter, Jerome I., Sambrook, Jennifer G., Sanders, Alan R., Oliver Schmidt, Carsten, Sinisalo, Juha, Smit, Jan H., Stringham, Heather M., Bragi Walters, G., Widen, Elisabeth, Wild, Sarah H., Willemsen, Gonneke, Zagato, Laura, Zgaga, Lina, Zitting, Paavo, Alavere, Helene, Farrall, Martin, McArdle, Wendy L., Nelis, Mari, Peters, Marjolein J., Ripatti, Samuli, van Meurs, Joyce B. J., Aben, Katja K., Ardlie, Kristin G., Beckmann, Jacques S., Beilby, John P., Bergman, Richard N., Bergmann, Sven, Collins, Francis S., Cusi, Daniele, den Heijer, Martin, Eiriksdottir, Gudny, Gejman, Pablo V., Hall, Alistair S., Hamsten, Anders, Huikuri, Heikki V., Iribarren, Carlos, Kähönen, Mika, Kaprio, Jaakko, Kathiresan, Sekar, Kiemeney, Lambertus, Kocher, Thomas, Launer, Lenore J., Lehtimäki, Terho, Melander, Olle, Mosley, Tom H., Jr, Musk, Arthur W., Nieminen, Markku S., O’Donnell, Christopher J., Ohlsson, Claes, Oostra, Ben, Palmer, Lyle J., Raitakari, Olli, Ridker, Paul M., Rioux, John D., Rissanen, Aila, Rivolta, Carlo, Schunkert, Heribert, Shuldiner, Alan R., Siscovick, David S., Stumvoll, Michael, Tönjes, Anke, Tuomilehto, Jaakko, van Ommen, Gert-Jan, Viikari, Jorma, Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Province, Michael A., Kayser, Manfred, Arnold, Alice M., Atwood, Larry D., Boerwinkle, Eric, Chanock, Stephen J., Deloukas, Panos, Gieger, Christian, Grönberg, Henrik, Hall, Per, Hattersley, Andrew T., Hengstenberg, Christian, Hoffman, Wolfgang, Mark Lathrop, G., Salomaa, Veikko, Schreiber, Stefan, Uda, Manuela, Waterworth, Dawn, Wright, Alan F., Assimes, Themistocles L., Barroso, Inês, Hofman, Albert, Mohlke, Karen L., Boomsma, Dorret I., Caulfield, Mark J., Adrienne Cupples, L., Erdmann, Jeanette, Fox, Caroline S., Gudnason, Vilmundur, Gyllensten, Ulf, Harris, Tamara B., Hayes, Richard B., Jarvelin, Marjo-Riitta, Mooser, Vincent, Munroe, Patricia B., Ouwehand, Willem H., Penninx, Brenda W., Pramstaller, Peter P., Quertermous, Thomas, Rudan, Igor, Samani, Nilesh J., Spector, Timothy D., Völzke, Henry, Watkins, Hugh, Wilson, James F., Groop, Leif C., Haritunians, Talin, Hu, Frank B., Kaplan, Robert C., Metspalu, Andres, North, Kari E., Schlessinger, David, Wareham, Nicholas J., Hunter, David J., O’Connell, Jeffrey R., Strachan, David P., Wichmann, H.-Erich, Borecki, Ingrid B., van Duijn, Cornelia M., Schadt, Eric E., Thorsteinsdottir, Unnur, Peltonen, Leena, Uitterlinden, André G., Visscher, Peter M., Chatterjee, Nilanjan, Loos, Ruth J. F., Boehnke, Michael, McCarthy, Mark I., Ingelsson, Erik, Lindgren, Cecilia M., Abecasis, Gonçalo R., Stefansson, Kari, Frayling, Timothy M., and Hirschhorn, Joel N.
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- 2010
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34. Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosis
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Fung, Maple M., Chen, Yuqing, Lipkowitz, Michael S., Salem, Rany M., Bhatnagar, Vibha, Mahata, Manjula, Nievergelt, Caroline M., Rao, Fangwen, Mahata, Sushil K., Schork, Nicholas J., Brophy, Victoria H., and Oʼconnor, Daniel T.
- Published
- 2009
35. Adrenergic Polymorphism and the Human Stress Response
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Rao, Fangwen, Zhang, Lian, Wessel, Jennifer, Zhang, Kuixing, Wen, Gen, Kennedy, Brian P., Rana, Brinda K., Das, Madhusudan, Rodriguez-Flores, Juan L., Smith, Douglas W., Cadman, Peter E., Salem, Rany M., Mahata, Sushil K., Schork, Nicholas J., Taupenot, Laurent, Ziegler, Michael G., and OʼConnor, Daniel T.
- Published
- 2008
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36. The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
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Middeldorp, Christel M., Mahajan, Anubha, Horikoshi, Momoko, Robertson, Neil R., Beaumont, Robin N., Bradfield, Jonathan P., Bustamante, Mariona, Cousminer, Diana L., Day, Felix R., De Silva, N. Maneka, Guxens, Monica, Mook-Kanamori, Dennis O., St Pourcain, Beate, Warrington, Nicole M., Adair, Linda S., Ahlqvist, Emma, Ahluwalia, Tarunveer Singh, Almgren, Peter, Ang, Wei, Atalay, Mustafa, Auvinen, Juha, Bartels, Meike, Beckmann, Jacques S., Bilbao, Jose Ramon, Bond, Tom, Borja, Judith B., Cavadino, Alana, Charoen, Pimphen, Chen, Zhanghua, Coin, Lachlan, Cooper, Cyrus, Curtin, John A., Custovic, Adnan, Das, Shikta, Davies, Gareth E., Dedoussis, George V., Duijts, Liesbeth, Eastwood, Peter R., Eliasen, Anders U., Elliott, Paul, Eriksson, Johan G., Estivill, Xavier, Fadista, Joao, Fedko, Iryna O., Frayling, Timothy M., Gaillard, Romy, Gauderman, W. James, Geller, Frank, Gilliland, Frank, Gilsanz, Vincente, Granell, Raquel, Grarup, Niels, Groop, Leif, Hadley, Dexter, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayes, M. Geoffrey, Hebebrand, Johannes, Heinrich, Joachim, Helgeland, Oyvind, Henders, Anjali K., Henderson, John, Henriksen, Tine B., Hirschhorn, Joel N., Hivert, Marie-France, Hocher, Berthold, Holloway, John W., Holt, Patrick, Hottenga, Jouke-Jan, Hypponen, Elina, Iniguez, Carmen, Johansson, Stefan, Jugessur, Astanand, Kahonen, Mika, Kalkwarf, Heidi J., Kaprio, Jaakko, Karhunen, Ville, Kemp, John P., Kerkhof, Marjan, Koppelman, Gerard H., Korner, Antje, Kotecha, Sailesh, Kreiner-Moller, Eskil, Kulohoma, Benard, Kumar, Ashish, Kutalik, Zoltan, Lahti, Jari, Lappe, Joan M., Larsson, Henrik, Lehtimaki, Terho, Lewin, Alexandra M., Li, Jin, Lichtenstein, Paul, Lindgren, Cecilia M., Lindi, Virpi, Linneberg, Allan, Liu, Xueping, Liu, Jun, Lowe, William L., Lundstrom, Sebastian, Lyytikainen, Leo-Pekka, Ma, Ronald C. W., Mace, Aurelien, Magi, Reedik, Magnus, Per, Mamun, Abdullah A., Mannikko, Minna, Martin, Nicholas G., Mbarek, Hamdi, McCarthy, Nina S., Medland, Sarah E., Melbye, Mads, Melen, Erik, Mohlke, Karen L., Monnereau, Claire, Morgen, Camilla S., Morris, Andrew P., Murray, Jeffrey C., Myhre, Ronny, Najman, Jackob M., Nivard, Michel G., Nohr, Ellen A., Nolte, Ilja M., Ntalla, Ioanna, Oberfield, Sharon E., Oken, Emily, Oldehinkel, Albertine J., Pahkala, Katja, Palviainen, Teemu, Panoutsopoulou, Kalliope, Pedersen, Oluf, Pennell, Craig E., Pershagen, Goran, Pitkanen, Niina, Plomin, Robert, Power, Christine, Prasad, Rashmi B., Prokopenko, Inga, Pulkkinen, Lea, Raikkonen, Katri, Raitakari, Olli T., Reynolds, Rebecca M., Richmond, Rebecca C., Rivadeneira, Fernando, Rodriguez, Alina, Rose, Richard J., Salem, Rany, Santa-Marina, Loreto, Saw, Seang-Mei, Schnurr, Theresia M., Scott, James G., Selzam, Saskia, Shepherd, John A., Simpson, Angela, Skotte, Line, Sleiman, Patrick M. A., Snieder, Harold, Sorensen, Thorkild I. A., Standl, Marie, Steegers, Eric A. P., Strachan, David P., Straker, Leon, Strandberg, Timo, Taylor, Michelle, Teo, Yik-Ying, Thiering, Elisabeth, Torrent, Maties, Tyrrell, Jessica, Uitterlinden, Andre G., van Beijsterveldt, Toos, van der Most, Peter J., van Duijn, Cornelia M., Viikari, Jorma, Vilor-Tejedor, Natalia, Vogelezang, Suzanne, Vonk, Judith M., Vrijkotte, Tanja G. M., Vuoksimaa, Eero, Wang, Carol A., Watkins, William J., Wichmann, H-Erich, Willemsen, Gonneke, Williams, Gail M., Wilson, James F., Wray, Naomi R., Xu, Shujing, Xu, Cheng-Jian, Yaghootkar, Hanieh, Yi, Lu, Zafarmand, Mohammad Hadi, Zeggini, Eleftheria, Zemel, Babette S., Hinney, Anke, Lakka, Timo A., Whitehouse, Andrew J. O., Sunyer, Jordi, Widen, Elisabeth E., Feenstra, Bjarke, Sebert, Sylvain, Jacobsson, Bo, Njolstad, Pal R., Stoltenberg, Camilla, Smith, George Davey, Lawlor, Debbie A., Paternoster, Lavinia, Timpson, Nicholas J., Ong, Ken K., Bisgaard, Hans, Bonnelykke, Klaus, Jaddoe, Vincent W. V., Tiemeier, Henning, Jarvelin, Marjo-Riitta, Evans, David M., Perry, John R. B., Grant, Struan F. A., Boomsma, Dorret I., Freathy, Rachel M., McCarthy, Mark I., and Felix, Janine F.
- Subjects
ddc:570 ,Institut für Biochemie und Biologie - Abstract
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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- 2019
37. The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
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Middeldorp, Christel M., Mahajan, Anubha, Horikoshi, Momoko, Robertson, Neil R., Beaumont, Robin N., Bradfield, Jonathan P., Bustamante, Mariona, Cousminer, Diana L., Day, Felix R., De Silva, N. Maneka, Guxens, Monica, Mook-Kanamori, Dennis O., St Pourcain, Beate, Warrington, Nicole M., Adair, Linda S., Ahlqvist, Emma, Ahluwalia, Tarunveer S., Almgren, Peter, Ang, Wei, Atalay, Mustafa, Auvinen, Juha, Bartels, Meike, Beckmann, Jacques S., Bilbao, Jose Ramon, Bond, Tom, Borja, Judith B., Cavadino, Alana, Charoen, Pimphen, Chen, Zhanghua, Coin, Lachlan, Cooper, Cyrus, Curtin, John A., Custovic, Adnan, Das, Shikta, Davies, Gareth E., Dedoussis, George V., Duijts, Liesbeth, Eastwood, Peter R., Eliasen, Anders U., Elliott, Paul, Eriksson, Johan G., Estivill, Xavier, Fadista, Joao, Fedko, Iryna O., Frayling, Timothy M., Gaillard, Romy, Gauderman, W. James, Geller, Frank, Gilliland, Frank, Gilsanz, Vincente, Granell, Raquel, Grarup, Niels, Groop, Leif, Hadley, Dexter, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayes, M. Geoffrey, Hebebrand, Johannes, Heinrich, Joachim, Helgeland, Oyvind, Henders, Anjali K., Henderson, John, Henriksen, Tine B., Hirschhorn, Joel N., Hivert, Marie-France, Hocher, Berthold, Holloway, John W., Holt, Patrick, Hottenga, Jouke-Jan, Hypponen, Elina, Iniguez, Carmen, Johansson, Stefan, Jugessur, Astanand, Kahonen, Mika, Kalkwarf, Heidi J., Kaprio, Jaakko, Karhunen, Ville, Kemp, John P., Kerkhof, Marjan, Koppelman, Gerard H., Korner, Antje, Kotecha, Sailesh, Kreiner-Moller, Eskil, Kulohoma, Benard, Kumar, Ashish, Kutalik, Zoltan, Lahti, Jari, Lappe, Joan M., Larsson, Henrik, Lehtimaki, Terho, Lewin, Alexandra M., Li, Jin, Lichtenstein, Paul, Lindgren, Cecilia M., Lindi, Virpi, Linneberg, Allan, Liu, Xueping, Liu, Jun, Lowe, William L., Jr., Lundstrom, Sebastian, Lyytikainen, Leo-Pekka, Ma, Ronald C. W., Mace, Aurelien, Magi, Reedik, Magnus, Per, Mamun, Abdullah A., Mannikko, Minna, Martin, Nicholas G., Mbarek, Hamdi, McCarthy, Nina S., Medland, Sarah E., Melbye, Mads, Melen, Erik, Mohlke, Karen L., Monnereau, Claire, Morgen, Camilla S., Morris, Andrew P., Murray, Jeffrey C., Myhre, Ronny, Najman, Jackob M., Nivard, Michel G., Nohr, Ellen A., Nolte, Ilja M., Ntalla, Ioanna, O'Reilly, Paul, Oberfield, Sharon E., Oken, Emily, Oldehinkel, Albertine J., Pahkala, Katja, Palviainen, Teemu, Panoutsopoulou, Kalliope, Pedersen, Oluf, Pennell, Craig E., Pershagen, Goran, Pitkanen, Niina, Plomin, Robert, Power, Christine, Prasad, Rashmi B., Prokopenko, Inga, Pulkkinen, Lea, Raikkonen, Katri, Raitakari, Olli T., Reynolds, Rebecca M., Richmond, Rebecca C., Rivadeneira, Fernando, Rodriguez, Alina, Rose, Richard J., Salem, Rany, Santa-Marina, Loreto, Saw, Seang-Mei, Schnurr, Theresia M., Scott, James G., Selzam, Saskia, Shepherd, John A., Simpson, Angela, Skotte, Line, Sleiman, Patrick M. A., Snieder, Harold, Sørensen, Thorkild I. A., Standl, Marie, Steegers, Eric A. P., Strachan, David P., Straker, Leon, Strandberg, Timo, Taylor, Michelle, Teo, Yik-Ying, Thiering, Elisabeth, Torrent, Maties, Tyrrell, Jessica, Uitterlinden, Andre G., van Beijsterveldt, Toos, van der Most, Peter J., van Duijn, Cornelia M., Viikari, Jorma, Vilor-Tejedor, Natalia, Vogelezang, Suzanne, Vonk, Judith M., Vrijkotte, Tanja G. M., Vuoksimaa, Eero, Wang, Carol A., Watkins, William J., Wichmann, H-Erich, Willemsen, Gonneke, Williams, Gail M., Wilson, James F., Wray, Naomi R., Xu, Shujing, Xu, Cheng-Jian, Yaghootkar, Hanieh, Yi, Lu, Zafarmand, Mohammad Hadi, Zeggini, Eleftheria, Zemel, Babette S., Hinney, Anke, Lakka, Timo A., Whitehouse, Andrew J. O., Sunyer, Jordi, Widen, Elisabeth E., Feenstra, Bjarke, Sebert, Sylvain, Jacobsson, Bo, Njolstad, Pal R., Stoltenberg, Camilla, Smith, George Davey, Lawlor, Debbie A., Paternoster, Lavinia, Timpson, Nicholas J., Ong, Ken K., Bisgaard, Hans, Bonnelykke, Klaus, Jaddoe, Vincent W. V., Tiemeier, Henning, Jarvelin, Marjo-Riitta, Evans, David M., Perry, John R. B., Grant, Struan F. A., Boomsma, Dorret I., Freathy, Rachel M., McCarthy, Mark I., Felix, Janine F., Sorensen, Thorkild I. A., Tiemeier, Hen-Ning, Biological Psychology, APH - Mental Health, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Methodology, APH - Health Behaviors & Chronic Diseases, Pediatrics, Epidemiology, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Groningen Research Institute for Asthma and COPD (GRIAC), Life Course Epidemiology (LCE), Public and occupational health, APH - Aging & Later Life, ARD - Amsterdam Reproduction and Development, ACS - Atherosclerosis & ischemic syndromes, APH - Global Health, Epidemiology and Data Science, Medical Research Council (MRC), Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland, University of Helsinki, Department of Public Health, Clinicum, Doctoral Programme in Cognition, Learning, Instruction and Communication, Department of Psychology and Logopedics, Helsinki Collegium for Advanced Studies, Faculty of Medicine, Timo Strandberg / Principal Investigator, Department of Medicine, Elisabeth Ingrid Maria Widen / Principal Investigator, HUS Internal Medicine and Rehabilitation, HUS Abdominal Center, Developmental Psychology Research Group, Genetic Epidemiology, Genomic Discoveries and Clinical Translation, Cognitive and Brain Aging, Middeldorp, Christel M [0000-0002-6218-0428], and Apollo - University of Cambridge Repository
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Male ,Netherlands Twin Register (NTR) ,embarazo ,Epidemiology ,C840 Clinical Psychology ,LD SCORE REGRESSION ,humanos ,LOCI ,Medizin ,adolescente ,Genome-wide association study ,BLOOD-PRESSURE ,Disease ,030204 cardiovascular system & hematology ,Cohort Studies ,0302 clinical medicine ,Pregnancy ,Medicine ,030212 general & internal medicine ,Early childhood ,C820 Developmental Psychology ,estudios de cohortes ,Child ,C440 Molecular Genetics ,Public, Environmental & Occupational Health ,Genetics ,education.field_of_study ,United Kingdom/epidemiology ,COMMON VARIANTS ,Hälsovetenskaper ,adulto ,A900 Others in Medicine and Dentistry ,3142 Public health care science, environmental and occupational health ,3. Good health ,predicción ,ddc ,Childhood traits and disorders ,Phenotype ,Disease/genetics ,Research Design ,Child, Preschool ,fenotipo ,Female ,ICEP ,medicine.symptom ,CHILDHOOD OBESITY ,Life Sciences & Biomedicine ,EArly Genetics Lifecourse Epidemiology (EAGLE) consortium ,Adult ,medicine.medical_specialty ,Adolescent ,Birth weight ,Population ,Consortium ,Childhood Traits And Disorders ,Longitudinal ,enfermedad ,Childhood obesity ,1117 Public Health and Health Services ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Health Sciences ,Humans ,Genetic Predisposition to Disease ,GENOME-WIDE ASSOCIATION ,education ,LONGITUDINAL TWIN ,METAANALYSIS ,lactante ,Science & Technology ,Early Growth Genetics (EGG) consortium ,business.industry ,Infant, Newborn ,Infant ,predisposición genética a la enfermedad ,medicine.disease ,BODY-MASS ,C800 Psychology ,BIRTH-WEIGHT ,C420 Human Genetics ,United Kingdom ,Low birth weight ,business ,diseño de la investigación ,Forecasting - Abstract
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites., We are grateful to all families and participants who took part in these studies. We also acknowledge and appreciate the unique efforts of the research teams and practitioners contributing to the collection of this wealth of data. C. M. M. is supported by funding from the European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement no. 721567. J. F. F. has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 633595 (DynaHEALTH) and 733206 (LifeCycle). R. M. F. and R. N. B. are supported by Sir Henry Dale Fellowship (Wellcome Trust and Royal Society grant: WT104150). D. L. C. is funded by the American Diabetes Association Grant 1-17-PDF-077. D. O. M-K. was supported by Dutch Science Organization (ZonMW-VENI Grant 916.14.023). N. M. W. is supported by an Australian National Health and Medical Research Council Early Career Fellowship (APP1104818). T. S. A. was partially funded by the Gene-Diet Interactions in Obesity (GENDINOB) project on behalf of GOYA male cohort data management and analyses and acknowledges the same. S. D. was supported by National Institute of Health Research. T. M. F. is supported by the European Research Council grant: 323195 SZ-245 50371-GLUCOSEGENES-FP7-IDEAS-ERC. The Novo Nordisk Foundation Center for Basic Metabolic Research is an independent Research Center at the University of Copenhagen partially funded by an unrestricted donation from the Novo Nordisk Foundation (www.metabol.ku.dk).H.H.is funded by The Children's Hospital of Philadelphia Endowed Chair in Genomic Research. A. T. H. is supported by the Wellcome Trust Senior Investigator Awards (WT098395), National Institute for Health Research (NIHR) Senior Investigator Award (NF-SI-0611-10219). J. Hebebrand received grants from German Research Society, German Ministry of Education and Research. M-F. H. is currently supported by an American Diabetes Association (ADA) Pathway Program Accelerator Early Investigator Award (1-15-ACE-26). S. J. is supported by Helse Vest no. 23929, Bergen Forskningsstiftelse and KG Jebsen Foundation and University of Bergen. J. K. has been supported by the Academy of Finland Research Professor program (grants 265240 & 263278). J. P. K. is funded by a University of Queensland Development Fellowship (UQFEL1718945). H. L. has served as a speaker for Eli-Lilly and Shire and has received research grants from Shire; all outside the submitted work. C. M. L is supported by the Li Ka Shing Foundation, WT-SSI/John Fell funds and by the NIHR Biomedical Research Centre, Oxford, by Widenlife and NIH (5P50HD028138-27). S. E. M. was funded by an NHMRC Senior Reseach Fellowship (APP1103623). K. Panoutsopoulou is funded by a career development fellowship (grant 20308) and by the Wellcome Trust (WT098051). C. P. at UCL Institute of Child Health, with support from the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. I. P. was funded in part by the Wellcome Trust (WT205915), and the European Union's Horizon 2020 research, the European Union FP7-IDEAS-ERC Advanced Grant (GEPIDIAB, ERC-AG -ERC-294785), and innovation programme (DYNAhealth, H2020-PHC-2014-633595). R. C. R. is supported by CRUK (grant number C18281/A19169). J. G. S. is supported by an NHMRC Practitioner Fellowship Grant (APP1105807). J. T.; r is funded by the European Regional Development Fund (ERDF), the European Social Fund (ESF), Convergence Programme for Cornwall and the Isles of Scilly and the Diabetes Research and Wellness Foundation Non-Clinical Fellowship. N. V-T. is funded by a pre-doctoral grant from the Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) (2015 FI_B 00636), Generalitat de Catalunya. T. G. M. V was supported by ZonMW (TOP 40-00812-98-11010. J. F. W. is supported by the MRC Human Genetics Unit quinquennial programme QTL in Health and Disease. H. Y. is funded by Diabetes UK RD Lawrence fellowship (grant: 17/0005594). M. H. Z was supported by BBMRI-NL (CP2013-50). E. Z. is supported by the Wellcome Trust (098051). B. F. is supported by Novo Nordisk Foundation (12955) and an Oak Foundation Fellowship. S. S. and M-R. J. have received funding from the European Union's Horizon 2020 research and innovation programme [under grant agreement No 633595] for the DynaHEALTH action. P. R. N. was supported by the European Research Council (ERC), University of Bergen, KG Jebsen and Helse Vest. G. D. S. works within the MRC Integrative Epidemiology Unit at the University of Bristol (MC_UU_12013/1). D. A. L was supported by the European Research Council under the European Union's Seventh Framework Programme (FP/2007-2013)/ERC Grant Agreement (Grant number 669545; DevelopObese), US National Institute of Health (grant: R01 DK10324), the UK Medical Research Council (grant: MC_UU_00011/6), Wellcome Trust GWAS grant (WT088806), an NIHR Senior Investigator Award (NF-SI-0611-10196) and the NIHR Biomedical Research Centre at University Hospitals Bristol NHS Foundation Trust and the University of Bristol. L. Paternoster was supported by the UK Medical Research Council Unit grants MC_UU_12013_5. N. J. T. is a Wellcome Trust Investigator (202802/Z/16/Z), is the PI of the Avon Longitudinal Study of Parents and Children (MRC & WT 102215/2/13/2), is supported by the University of Bristol NIHR Biomedical Research Centre (BRC) and works within the CRUK Integrative Cancer Epidemiology Programme (C18281/A19169). V.W.V.J. received an additional grant from the Netherlands Organization for Health Research and Development (NWO, ZonMw-VIDI 016.136.361), a European Research Council Consolidator Grant (ERC-2014-CoG-648916) and funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 633595 (DynaHEALTH) and 733206 (LifeCycle). D. M. E. is funded by the UK Medical Research Council Unit grant MC_UU_12013_4, Australian Research Council Future Fellowship (FT130101709) and a NHMRC Senior Research Fellowship (GNT1137714). S. F. A. G. is funded by the Daniel B. Burke Endowed Chair for Diabetes Research and R01 HD056465. D. I. B. is supported by Spinozapremie (NWO-56-464-14192) and the Royal Netherlands Academy of Science Professor Award (PAH/6635) to DIB. M. I. M. is a Wellcome Senior Investgator and NIHR Senior Investigator supported by the Wellcome (090532, 098381, 203141), NIHR (NF-SI-0617-10090) and the US National Institute of Health (grant: R01 DK10324), the UK Medical Research Council (grant: MCiabetes UK RD Lawrence fellowship (grant: 17/0005594). M. H. Z was supported by BBMRI-NLNIHR Biomedical Research Centre, Oxford. The views expressed in this article are those of the author(s) and not necessarily those of the NHS, the NIHR, or the Department of Health.
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- 2019
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38. Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activityxyc and cardiovascular risk
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Zhang, Lian, Rao, Fangwen, Zhang, Kuixing, Khandrika, Srikrishna, Das, Madhusudan, Vaingankar, Sucheta M., Bao, Xuping, Rana, Brinda K., Smith, Douglas W., Wessel, Jennifer, Salem, Rany M., Rodriguez-Flores, Juan L., Mahata, Sushil K., Schork, Nicholas J., Ziegler, Michael G., and OʼConnor, Daniel T.
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- 2007
39. Catecholamine storage vesicles and the metabolic syndrome: the role of the chromogranin A fragment pancreastatin
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Zhang, Kuixing, Rao, Fangwen, Wen, Gen, Salem, Rany M., Vaingankar, Sucheta, Mahata, Manjula, Mahapatra, Nitish R., Lillie, Elizabeth O., Cadman, Peter E., Friese, Ryan S., Hamilton, Bruce A., Hook, Vivian Y., Mahata, Sushil K., Taupenot, Laurent, and OʼConnor, Daniel T.
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- 2006
40. Pancreastatin: Multiple Actions on Human Intermediary Metabolism in Vivo, Variation in Disease, and Naturally Occurring Functional Genetic Polymorphism
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O’Connor, Daniel T., Cadman, Peter E., Smiley, Clayton, Salem, Rany M., Rao, Fangwen, Smith, Joshua, Funk, Stephen D., Mahata, Sushil K., Mahata, Manjula, Wen, Gen, Taupenot, Laurent, Gonzalez-Yanes, Carmen, Harper, Kimberly L., Henry, Robert R., and Sanchez-Margalet, Victor
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- 2005
41. Markers of Kidney Function and Longitudinal Cognitive Ability Among Older Community-Dwelling Adults: The Rancho Bernardo Study.
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Richard, Erin L., McEvoy, Linda K., Oren, Eyal, Alcaraz, John E., Laughlin, Gail A., LaCroix, Andrea Z., and Salem, Rany M.
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COGNITIVE ability ,KIDNEY physiology ,EPISODIC memory ,GLOMERULAR filtration rate ,COGNITION ,RANCHES ,KIDNEY function tests ,SEX distribution ,INDEPENDENT living ,RESEARCH funding ,URIC acid ,LONGITUDINAL method ,ALBUMINURIA - Abstract
Background: Reduced kidney function has been associated with cognitive decline. Most studies have examined a single marker of kidney function and have limited duration of follow-up.Objective: This study evaluated associations between markers of kidney function (urine albumin, estimated glomerular filtration rate [eGFR], and hyperuricemia) with cognitive performance over time.Methods: This is a longitudinal study of 1,634 community-dwelling adults (mean age = 71.7 years), with kidney function markers and cognitive ability measured at baseline (1992-1996) and at up to five additional time points with a maximum of 23.4 years (mean = 8.1 years) of follow-up. Associations between kidney function and cognitive performance were assessed using linear mixed effects models. Testing for interaction by sex was conducted.Results: Albuminuria (urine albumin-to-creatinine ratio [ACR]≥30 mg/g) was associated with steeper annual declines in global cognitive function (MMSE, β= -0.12, p = 0.003), executive function (Trails B, β= 4.50, p < 0.0001) and episodic memory (Buschke total recall, β= -0.62, p = 0.02) scores in men. Results were similar when cognitive test scores were regressed on latent trajectory classes of ACR. In men, hyperuricemia (serum uric acid [SUA]≥6.8 mg/dl for men and SUA≥6.0 mg/dl for women) was associated with lower baseline MMSE (β= -0.70, p = 0.009) scores but not with MMSE change over time. No such associations were detected in women. There were no significant associations between eGFR and cognitive performance for either sex.Conclusion: In older men, albuminuria is an independent predictor of subsequent cognitive decline. More investigations are needed to explain the observed sex differences and the potential relationship between hyperuricemia and poorer global cognition. [ABSTRACT FROM AUTHOR]- Published
- 2021
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42. Similar Genetic Architecture of Alzheimer's Disease and Differential APOE Effect Between Sexes.
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Wang, Hao, Lo, Min-Tzu, Rosenthal, Sara Brin, Makowski, Carolina, Andreassen, Ole A., Salem, Rany M., McEvoy, Linda K., Fiecas, Mark, and Chen, Chi-Hua
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ALZHEIMER'S disease ,Y chromosome ,GENOTYPE-environment interaction ,GENETIC correlations ,SEX chromosomes ,OLDER men ,GENOME-wide association studies - Abstract
Sex differences have been observed in the clinical manifestations of Alzheimer's disease (AD) and elucidating their genetic basis is an active research topic. Based on autosomal genotype data of 7,216 men and 10,680 women, including 8,136 AD cases and 9,760 controls, we explored sex-related genetic heterogeneity in AD by investigating SNP heritability, genetic correlation, as well as SNP- and gene-based genome-wide analyses. We found similar SNP heritability (men: 19.5%; women: 21.5%) and high genetic correlation (R
g = 0.96) between the sexes. The heritability of APOE ε4-related risks for AD, after accounting for effects of all SNPs excluding chromosome 19, was nominally, but not significantly, higher in women (10.6%) than men (9.7%). In age-stratified analyses, ε3/ε4 was associated with a higher risk of AD among women than men aged 65–75 years, but not in the full sample. Apart from APOE , no new significant locus was identified in sex-stratified gene-based analyses. Our result of the high genetic correlation indicates overall similar genetic architecture of AD in both sexes at the genome-wide averaged level. Our study suggests that clinically observed sex differences may arise from sex-specific variants with small effects or more complicated mechanisms involving epigenetic alterations, sex chromosomes, or gene-environment interactions. [ABSTRACT FROM AUTHOR]- Published
- 2021
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43. Causal association of cognitive reserve on Alzheimer's disease with putative sex difference.
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Wang, Hao, Rosenthal, Brin Sara, Makowski, Carolina, Lo, Min‐Tzu, Andreassen, Ole A., Salem, Rany M., McEvoy, Linda K., Fiecas, Mark, and Chen, Chi‐Hua
- Abstract
Introduction: Sex‐dependent risk factors may underlie sex differences in Alzheimer's disease (AD). Methods: Using sex‐stratified genome‐wide association studies (GWAS) of AD, we evaluated associations of 12 traits with AD through polygenic risk scores (PRS) and Mendelian randomization (MR), and explored joint genetic architecture among significant traits by genomic structural equation modeling and network analysis. Results: AD was associated with lower PRS for premorbid cognitive performance, intelligence, and educational attainment. MR showed a causal role for the cognition‐related traits in AD, particularly among females. Their joint genetic components encompassed RNA processing, neuron projection development, and cell cycle pathways that overlap with cellular senescence. Cholesterol and C‐reactive protein showed pleiotropy but no causality with AD. Discussion: Lower cognitive reserve is causally related to AD. The stronger causal link between cognitive performance and AD in females, despite similar PRS between sexes, suggest these differences may result from gene–environmental interactions accumulated over the lifespan. [ABSTRACT FROM AUTHOR]
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- 2021
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44. Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.
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Geidenstam, Nina, Hsu, Yu-Han H., Astley, Christina M., Mercader, Josep M., Ridderstråle, Martin, Gonzalez, Maria E., Gonzalez, Clicerio, Hirschhorn, Joel N., and Salem, Rany M.
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WEIGHT gain ,BODY mass index ,INSULIN resistance - Abstract
Background: Excess weight gain throughout adulthood can lead to adverse clinical outcomes and are influenced by complex factors that are difficult to measure in free-living individuals. Metabolite profiling offers an opportunity to systematically discover new predictors for weight gain that are relatively easy to measure compared to traditional approaches. Methods and results: Using baseline metabolite profiling data of middle-aged individuals from the Framingham Heart Study (FHS; n = 1,508), we identified 42 metabolites associated (p < 0.05) with longitudinal change in body mass index (BMI). We performed stepwise linear regression to select 8 of these metabolites to build a metabolite risk score (MRS) for predicting future weight gain. We replicated the MRS using data from the Mexico City Diabetes Study (MCDS; n = 768), in which one standard deviation increase in the MRS corresponded to ~0.03 increase in BMI (kg/m
2 ) per year (i.e. ~0.09 kg/year for a 1.7 m adult). We observed that none of the available anthropometric, lifestyle, and glycemic variables fully account for the MRS prediction of weight gain. Surprisingly, we found the MRS to be strongly correlated with baseline insulin sensitivity in both cohorts and to be negatively predictive of T2D in MCDS. Genome-wide association study of the MRS identified 2 genome-wide (p < 5 × 10−8 ) and 5 suggestively (p < 1 × 10−6 ) significant loci, several of which have been previously linked to obesity-related phenotypes. Conclusions: We have constructed and validated a generalizable MRS for future weight gain that is an independent predictor distinct from several other known risk factors. The MRS captures a composite biological picture of weight gain, perhaps hinting at the anabolic effects of preserved insulin sensitivity. Future investigation is required to assess the relationships between MRS-predicted weight gain and other obesity-related diseases. [ABSTRACT FROM AUTHOR]- Published
- 2019
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45. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
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Horikoshi, Momoko Yaghootkar, Hanieh Mook-Kanamori, Dennis O. and Sovio, Ulla Taal, H. Rob Hennig, Branwen J. Bradfield, Jonathan P. St Pourcain, Beate Evans, David M. Charoen, Pimphen Kaakinen, Marika Cousminer, Diana L. Lehtimaki, Terho Kreiner-Moller, Eskil Warrington, Nicole M. and Bustamante, Mariona Feenstra, Bjarke Berry, Diane J. and Thiering, Elisabeth Pfab, Thiemo Barton, Sheila J. Shields, Beverley M. Kerkhof, Marjan van Leeuwen, Elisabeth M. and Fulford, Anthony J. Kutalik, Zoltan Zhao, Jing Hua den Hoed, Marcel Mahajan, Anubha Lindi, Virpi Goh, Liang-Kee and Hottenga, Jouke-Jan Wu, Ying Raitakari, Olli T. Harder, Marie N. Meirhaeghe, Aline Ntalla, Ioanna Salem, Rany M. and Jameson, Karen A. Zhou, Kaixin Monies, Dorota M. Lagou, Vasiliki Kirin, Mirna Heikkinen, Jani Adair, Linda S. and Alkuraya, Fowzan S. Al-Odaib, Ali Amouyel, Philippe and Andersson, Ehm Astrid Bennett, Amanda J. Blakemore, Alexandra I. F. Buxton, Jessica L. Dallongeville, Jean Das, Shikta de Geus, Eco J. C. Estivill, Xavier Flexeder, Claudia Froguel, Philippe Geller, Frank Godfrey, Keith M. Gottrand, Frederic and Groves, Christopher J. Hansen, Torben Hirschhorn, Joel N. and Hofman, Albert Hollegaard, Mads V. Hougaard, David M. and Hyppoenen, Elina Inskip, Hazel M. Isaacs, Aaron Jorgensen, Torben Kanaka-Gantenbein, Christina Kemp, John P. Kiess, Wieland Kilpelainen, Tuomas O. Klopp, Norman Knight, Bridget A. Kuzawa, Christopher W. McMahon, George Newnham, John P. and Niinikoski, Harri Oostra, Ben A. Pedersen, Louise and Postma, Dirkje S. Ring, Susan M. Rivadeneira, Fernando and Robertson, Neil R. Sebert, Sylvain Simell, Olli Slowinski, Torsten Tiesler, Carla M. T. Toenjes, Anke Vaag, Allan and Viikari, Jorma S. Vink, Jacqueline M. Vissing, Nadja Hawwa and Wareham, Nicholas J. Willemsen, Gonneke Witte, Daniel R. and Zhang, Haitao Zhao, Jianhua Wilson, James F. Stumvoll, Michael Prentice, Andrew M. Meyer, Brian F. Pearson, Ewan R. and Boreham, Colin A. G. Cooper, Cyrus Gillman, Matthew W. and Dedoussis, George V. Moreno, Luis A. Pedersen, Oluf and Saarinen, Maiju Mohlke, Karen L. Boomsma, Dorret I. Saw, Seang-Mei Lakka, Timo A. Koerner, Antje Loos, Ruth J. F. and Ong, Ken K. Vollenweider, Peter van Duijn, Cornelia M. and Koppelman, Gerard H. Hattersley, Andrew T. Holloway, John W. and Hocher, Berthold Heinrich, Joachim Power, Chris Melbye, Mads and Guxens, Monica Pennell, Craig E. Bonnelykke, Klaus and Bisgaard, Hans Eriksson, Johan G. Widen, Elisabeth and Hakonarson, Hakon Uitterlinden, Andre G. Pouta, Anneli and Lawlor, Debbie A. Smith, George Davey Frayling, Timothy M. and McCarthy, Mark I. Grant, Struan F. A. Jaddoe, Vincent W. V. and Jarvelin, Marjo-Riitta Timpson, Nicholas J. Prokopenko, Inga and Freathy, Rachel M. MAGIC Early Growth Genetics EGG
- Abstract
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood(1). Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits(2). In an expanded genome-wide association metaanalysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
- Published
- 2013
46. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
- Author
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van Zuydam, Natalie R., Ahlqvist, Emma, Sandholm, Niina, Deshmukh, Harshal, Rayner, N. William, Abdalla, Moustafa, Ladenvall, Claes, Ziemek, Daniel, Fauman, Eric, Robertson, Neil R., McKeigue, Paul M., Valo, Erkka, Forsblom, Carol, Harjutsalo, Valma, Perna, Annalisa, Rurali, Erica, Marcovecchio, M. Loredana, Igo Jr., Robert P., Salem, Rany M., and Perico, Norberto
- Subjects
TYPE 2 diabetes ,GENOMES ,KIDNEY diseases ,DIABETES ,GENETICS ,CHRONIC kidney failure complications ,TYPE 2 diabetes complications ,CHRONIC kidney failure ,COMPARATIVE studies ,DIABETIC nephropathies ,DISEASE susceptibility ,GENETIC polymorphisms ,RESEARCH methodology ,MEDICAL cooperation ,RESEARCH ,RESEARCH funding ,EVALUATION research ,CASE-control method ,SEQUENCE analysis - Abstract
Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 × 10-8) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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47. Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity.
- Author
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Astley, Christina M., Todd, Jennifer N., Salem, Rany M., Vedantam, Sailaja, Ebbeling, Cara B., Huang, Paul L., Ludwig, David S., Hirschhorn, Joel N., and Florez, Jose C.
- Published
- 2018
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- View/download PDF
48. Common variants at 12q15 and 12q24 are associated with infant head circumference
- Author
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Taal, H Rob, Pourcain, Beate St, Geller, Frank, Davis, Oliver S P, Elliott, Paul, Evans, David M, Feenstra, Bjarke, Flexeder, Claudia, Frayling, Tim, Freathy, Rachel M, Gaillard, Romy, Groen-Blokhuis, Maria, Guxens, Mònica, Goh, Liang-Kee, Haworth, Claire M A, Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N, Holloway, John W, Holst, Claus, Hottenga, Jouke Jan, Cousminer, Diana L, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Iñiguez, Carmen, Kaakinen, Marika, Kilpeläinen, Tuomas O, Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A, Kerkhof, Marjan, Lawlor, Debbie A, Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Mook-Kanamori, Dennis O, Timpson, Nicholas J, Murray, Jeffrey C, Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, O'Reilly, Paul F, Palmer, Lyle J, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Prokopenko, Inga, Ikram, M Arfan, Rodriguez, Alina, Salem, Rany M, Sebert, Sylvain, Siitonen, Niina, Sovio, Ulla, St Pourcain, Beate, Strachan, David P, Sunyer, Jordi, Teo, Yik-Ying, Beilin, Lawrence J, Thiering, Elisabeth, Tiesler, Carla, Uitterlinden, Andre G, Valcárcel, Beatriz, Warrington, Nicole M, White, Scott, Willemsen, Gonneke, Yaghootkar, Hanieh, Zeggini, Eleftheria, Boomsma, Dorret I, Bønnelykke, Klaus, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Grant, Struan F A, Hakonarson, Hakon, Hattersley, Andrew T, Heinrich, Joachim, Hocher, Berthold, Jaddoe, Vincent W V, Jarvelin, Marjo-Riitta, Buxton, Jessica L, Lakka, Timo A, McCarthy, Mark I, Melbye, Mads, Mohlke, Karen L, Dedoussis, George V, Ong, Ken K, Pearson, Ewan R, Pennell, Craig E, Price, Thomas S, Power, Chris, Charoen, Pimphen, Raitakari, Olli T, Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I A, Widen, Elisabeth, Wilson, James F, Ang, Wei, van Beijsterveldt, Toos, Chawes, Bo Lund Krogsgaard, Bergen, Nienke, Benke, Kelly, Berry, Diane, Bradfield, Jonathan P, Coin, Lachlan, Das, Shikta, Eriksson, Johan, Hofman, Albert, Standl, Marie, Kemp, John P, Kim, Cecilia E, Klopp, Norman, Fornage, Myriam, Smith, Albert V, Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A, Ropele, Stefan, Sigurdsson, Sigurdur, Lahti, Jari, Coker, Laura H, Longstreth, W. T., Niessen, Wiro J, DeStefano, Anita L, Beiser, Alexa, Zijdenbos, Alex P, Struchalin, Maksim, Jack, Clifford R, Nalls, Mike A, Au, Rhoda, Lye, Stephen J, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B, Meeks, William M, Vernooij, Meike W, van Buchem, Mark A, Catellier, Diane, Gudnason, Vilmundur, Windham, B Gwen, McMahon, George, Wolf, Philip A, van Duijn, Cornelia M, Mosley, Thomas H, Schmidt, Helena, Launer, Lenore J, Breteler, Monique M B, DeCarli, Charles, Mentch, Frank D, Müller, Martina, Rivadeneira, Fernando, Steegers, Eric A P, Epidemiology, Cohorts for Heart and Aging Research in Genetic, Debette, Stephanie, Epidemiology, Early Genetics & Lifecourse, Blakemore, Alexandra If, Chiavacci, Rosetta M, Fernandez-Benet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J, Lathrop, Mark, McArdle, Wendy L, Mølgaard, Anne, Newnham, John P, Palotie, Aarno, Pouta, Annneli, Ring, Susan M, Kreiner-Møller, Eskil, Wichmann, H-Erich, Vissing, Nadja Hawwa, Koppelman, Gerard H, Bisgaard, Hans, Smith, George Davey, Genetics, Early Growth, Adair, Linda S, Atalay, Mustafa, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, Epidemiology, Erasmus MC other, Internal Medicine, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Pediatrics, Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Early Growth Genetics (EGG) Consortium, Taal, H Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Jaddo, Vincent WV, and Hypponen, Elina
- Subjects
Embaràs -- Complicacions ,Netherlands Twin Register (NTR) ,Male ,Medizin ,pathology [Head] ,Physiology ,PROTEIN ,Genome-wide association study ,INTELLIGENCE ,Bioinformatics ,0302 clinical medicine ,PARKINSONS-DISEASE ,Polymorphism (computer science) ,Pregnancy ,infant head circumference ,chromosome 12q24 ,Cap -- Malalties ,health care economics and organizations ,Cap -- Creixement ,0303 health sciences ,3. Good health ,genetics [European Continental Ancestry Group] ,genetics [Chromosomes, Human, Pair 12] ,genetics [Polymorphism, Single Nucleotide] ,Medical genetics ,Female ,chromosome 12q15 ,BRAIN-DEVELOPMENT ,Genetic Markers ,medicine.medical_specialty ,DISORDERS ,Single-nucleotide polymorphism ,Biology ,etiology [Pregnancy Complications] ,Polymorphism, Single Nucleotide ,White People ,Article ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Meta-Analysis as Topic ,ddc:570 ,Genetics ,medicine ,Humans ,GENOME-WIDE ASSOCIATION ,Institut für Biochemie und Biologie ,030304 developmental biology ,Genetic association ,Cromosomes humans ,pathology [Pregnancy Complications] ,Chromosomes, Human, Pair 12 ,IDENTIFICATION ,growth & development [Head] ,MUTATIONS ,Polimorfisme genètic ,Chromosome ,Infant ,ta3121 ,medicine.disease ,brain growth ,GENE ,Pregnancy Complications ,Genetic marker ,Genetic Loci ,FETAL-GROWTH ,Head ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. Major funding for the research in this paper is as follows: Academy of Finland (project grants 104781, 120315, 129269, 1114194 and Center of Excellence in Complex Disease Genetics); Canadian Institutes of Health Research (grant MOP 82893); The European Community’s Seventh Framework Programme (FP7/2007-2013), ENGAGE project, grant agreement HEALTH-F4-2007-201413; Instituto de Salud Carlos III (FIS PI081151, and PS09/00432); Medical Research Council UK (G0500539, G0600331, PrevMetSyn/Salve/MRC, G0600705); National Health and Medical Research Council of Australia (ID 403981 and ID 003209); Netherlands Organisation for Scientific Research (NOW)/Netherlands Organisation for Health Reseacrh and Development (ZonMw) (grants SPI 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717); NHLBI (grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01)); NIH (grant 1R01HD056465-01A1); University of Leipzig; Wellcome Trust (project grant GR069224); Western Australian DNA Bank; Western Australian Genetic Epidemiology Resource; ZonMW (grant 21000074). Personal funding is as follows: H.R.T by the Dutch Kidney Foundation (C08.2251) , S.D. by the Medical Research Council UK (G0500539, PrevMetSyn, and PS0476), R.M.F by a Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust grant: 085541/Z/08/Z), D.M.E. by a Medical Research Council New Investigator Award (MRC G0800582 to D.M.E.), J.P.K. by a Wellcome Trust 4-year PhD studentship (WT083431MA), I.P. and J.F.B. in part supported by the European Community’s ENGAGE grant HEALTH-F4-2007-201413. A.T.H. is employed as a core member of the Peninsula NIHR Clinical Research Facility, V.W.V.J by the Netherlands Organization for Health Research (ZonMw 90700303, 916.10159)
- Published
- 2012
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49. Comprehensive Population-Based Genetic Fine Mapping and Single-Cell Epigenomics Provide Insights into the Regulation of Human Hematopoiesis
- Author
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Bao, Erik L., Ulirsch, Jacob C., Lareau, Caleb A., Guo, Michael H., Salem, Rany M., Benner, Christian, Hirschhorn, Joel N., Aryee, Martin J., Greenleaf, William J., Buenrostro, Jason D., and Sankaran, Vijay G.
- Published
- 2017
- Full Text
- View/download PDF
50. Efficient Bayesian mixed-model analysis increases association power in large cohorts.
- Author
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Loh, Po-Ru, Vilhjálmsson, Bjarni J, Tucker, George, Bulik-Sullivan, Brendan K, Neale, Benjamin M, Finucane, Hilary K, Salem, Rany M, Chasman, Daniel I, Ridker, Paul M, Berger, Bonnie, Patterson, Nick, and Price, Alkes L
- Subjects
BAYESIAN analysis ,STATISTICS ,GENOMES ,GAUSSIAN processes ,PHENOTYPES ,PARAMETER estimation - Abstract
Linear mixed models are a powerful statistical tool for identifying genetic associations and avoiding confounding. However, existing methods are computationally intractable in large cohorts and may not optimize power. All existing methods require time cost O(MN
2 ) (where N is the number of samples and M is the number of SNPs) and implicitly assume an infinitesimal genetic architecture in which effect sizes are normally distributed, which can limit power. Here we present a far more efficient mixed-model association method, BOLT-LMM, which requires only a small number of O(MN) time iterations and increases power by modeling more realistic, non-infinitesimal genetic architectures via a Bayesian mixture prior on marker effect sizes. We applied BOLT-LMM to 9 quantitative traits in 23,294 samples from the Women's Genome Health Study (WGHS) and observed significant increases in power, consistent with simulations. Theory and simulations show that the boost in power increases with cohort size, making BOLT-LMM appealing for genome-wide association studies in large cohorts. [ABSTRACT FROM AUTHOR]- Published
- 2015
- Full Text
- View/download PDF
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