9 results on '"Benke, Kelly"'
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2. Additional file 3 of Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism
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Zhu, Yihui, Gomez, J. Antonio, Laufer, Benjamin I., Mordaunt, Charles E., Mouat, Julia S., Soto, Daniela C., Dennis, Megan Y., Benke, Kelly S., Bakulski, Kelly M., Dou, John, Marathe, Ria, Jianu, Julia M., Williams, Logan A., Gutierrez Fug��n, Orangel J., Walker, Cheryl K., Ozonoff, Sally, Daniels, Jason, Grosvenor, Luke P., Volk, Heather E., Feinberg, Jason I., Fallin, M. Daniele, Hertz-Picciotto, Irva, Schmidt, Rebecca J., Yasui, Dag H., and LaSalle, Janine M.
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Additional file 3. This file contains Figures S1-S44.
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- 2022
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3. Additional file 32 of Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism
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Zhu, Yihui, Gomez, J. Antonio, Laufer, Benjamin I., Mordaunt, Charles E., Mouat, Julia S., Soto, Daniela C., Dennis, Megan Y., Benke, Kelly S., Bakulski, Kelly M., Dou, John, Marathe, Ria, Jianu, Julia M., Williams, Logan A., Gutierrez Fug��n, Orangel J., Walker, Cheryl K., Ozonoff, Sally, Daniels, Jason, Grosvenor, Luke P., Volk, Heather E., Feinberg, Jason I., Fallin, M. Daniele, Hertz-Picciotto, Irva, Schmidt, Rebecca J., Yasui, Dag H., and LaSalle, Janine M.
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Additional file 32. Review history.
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- 2022
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4. Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals
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Liu, Ching-Ti, Merino, Jordi, Rybin, Denis, DiCorpo, Daniel, Benke, Kelly S, Bragg-Gresham, Jennifer L, Canouil, Mickaël, Corre, Tanguy, Grallert, Harald, Isaacs, Aaron, Kutalik, Zoltan, Lahti, Jari, Marullo, Letizia, Marzi, Carola, Rasmussen-Torvik, Laura J, Rocheleau, Ghislain, Rueedi, Rico, Scapoli, Chiara, Verweij, Niek, Vogelzangs, Nicole, Willems, Sara M, Yengo, Loïc, Bakker, Stephan JL, Beilby, John, Hui, Jennie, Kajantie, Eero, Müller-Nurasyid, Martina, Rathmann, Wolfgang, Balkau, Beverley, Bergmann, Sven, Eriksson, Johan G, Florez, Jose C, Froguel, Philippe, Harris, Tamara, Hung, Joseph, James, Alan L, Kavousi, Maryam, Miljkovic, Iva, Musk, Arthur W, Palmer, Lyle J, Peters, Annette, Roussel, Ronan, Van Der Harst, Pim, Van Duijn, Cornelia M, Vollenweider, Peter, Barroso, Inês, Prokopenko, Inga, Dupuis, Josée, Meigs, James B, and Bouatia-Naji, Nabila
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Blood Glucose ,Male ,Genotype ,Genetic Variation ,Middle Aged ,Polymorphism, Single Nucleotide ,White People ,Phenotype ,Diabetes Mellitus, Type 2 ,Humans ,Female ,sense organs ,Longitudinal Studies ,Genome-Wide Association Study - Abstract
Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of longitudinal fasting glucose changes in up to 13,807 non-diabetic individuals of European descent from nine cohorts. Fasting glucose change over time was defined as the slope of the line defined by multiple fasting glucose measurements obtained over up to 14 years of observation. We tested for associations of genetic variants with inverse-normal transformed fasting glucose change over time adjusting for age at baseline, sex, and principal components of genetic variation. We found no genome-wide significant association (P < 5 × 10-8) with fasting glucose change over time. Seven loci previously associated with T2D, fasting glucose or HbA1c were nominally (P < 0.05) associated with fasting glucose change over time. Limited power influences unambiguous interpretation, but these data suggest that genetic effects on fasting glucose change over time are likely to be small. A public version of the data provides a genomic resource to combine with future studies to evaluate shared genetic links with T2D and other metabolic risk traits.
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- 2019
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5. Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals
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Liu, Ching-Ti, Merino, Jordi, Rybin, Denis, DiCorpo, Daniel, Benke, Kelly S, Bragg-Gresham, Jennifer L, Canouil, Mickaël, Corre, Tanguy, Grallert, Harald, Isaacs, Aaron, Kutalik, Zoltan, Lahti, Jari, Marullo, Letizia, Marzi, Carola, Rasmussen-Torvik, Laura J, Rocheleau, Ghislain, Rueedi, Rico, Scapoli, Chiara, Verweij, Niek, Vogelzangs, Nicole, Willems, Sara M, Yengo, Loïc, Bakker, Stephan JL, Beilby, John, Hui, Jennie, Kajantie, Eero, Müller-Nurasyid, Martina, Rathmann, Wolfgang, Balkau, Beverley, Bergmann, Sven, Eriksson, Johan G, Florez, Jose C, Froguel, Philippe, Harris, Tamara, Hung, Joseph, James, Alan L, Kavousi, Maryam, Miljkovic, Iva, Musk, Arthur W, Palmer, Lyle J, Peters, Annette, Roussel, Ronan, van der Harst, Pim, van Duijn, Cornelia M, Vollenweider, Peter, Barroso, Inês, Prokopenko, Inga, Dupuis, Josée, Meigs, James B, Bouatia-Naji, Nabila, Merino, Jordi [0000-0001-8312-1438], Canouil, Mickaël [0000-0002-3396-4549], Isaacs, Aaron [0000-0001-5037-4834], Kutalik, Zoltan [0000-0001-8285-7523], Lahti, Jari [0000-0002-4310-5297], Rueedi, Rico [0000-0002-6713-2214], Scapoli, Chiara [0000-0003-4058-4787], Froguel, Philippe [0000-0003-2972-0784], van der Harst, Pim [0000-0002-2713-686X], Barroso, Inês [0000-0001-5800-4520], Prokopenko, Inga [0000-0003-1624-7457], Bouatia-Naji, Nabila [0000-0001-5424-2134], and Apollo - University of Cambridge Repository
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Blood Glucose ,Male ,Genotype ,Genetic Variation ,Middle Aged ,Polymorphism, Single Nucleotide ,White People ,Phenotype ,Diabetes Mellitus, Type 2 ,Humans ,Female ,sense organs ,Longitudinal Studies ,Genome-Wide Association Study - Abstract
Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of longitudinal fasting glucose changes in up to 13,807 non-diabetic individuals of European descent from nine cohorts. Fasting glucose change over time was defined as the slope of the line defined by multiple fasting glucose measurements obtained over up to 14 years of observation. We tested for associations of genetic variants with inverse-normal transformed fasting glucose change over time adjusting for age at baseline, sex, and principal components of genetic variation. We found no genome-wide significant association (P
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- 2019
6. WHOLE GENOME SEQUENCING OF MULTIPLY-AFFECTED SCHIZOPHRENIA AND BIPOLAR DISORDER FAMILIES FROM THE AZORES AND MADEIRA
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Silviu Alin Bacanu, Steven A. McCarroll, Brion S. Maher, Ayman H. Fanous, Carlos N. Pato, Michele T. Pato, Tim B. Bigdeli, Benke Kelly, and James A. Knowles
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Pharmacology ,Whole genome sequencing ,Genetics ,education.field_of_study ,Population ,Genome-wide association study ,Biology ,medicine.disease ,Psychiatry and Mental health ,Neurology ,Schizophrenia ,medicine ,Autism ,Pharmacology (medical) ,Neurology (clinical) ,Bipolar disorder ,education ,Indel ,Gene ,Biological Psychiatry - Abstract
Background Schizophrenia (SZ) and Bipolar Disorder (BP) are debilitating neuropsychiatric disorders, each affecting 0.5–1% of the world's population, and for which a shared polygenic liability has been demonstrated. Here, we consider recent progress in an ongoing, Whole Genome Sequencing (WGS) study of multiply affected SZ and BP families from the Portuguese archipelagos of the Azores and Madeira. Methods Using the Illumina HiSeq. 2000 platform, we obtained deep, WGS data (~30X) for 51 SCZ and 39 BP cases, and 72 unaffected relatives from 40 families; an additional 16 relatives meeting criteria for some other psychiatric diagnosis (e.g., major depression or alcoholism) and 7 of unknown phenotype; and 30 unrelated ethnically-matched controls. We applied a prioritization strategy for filtering putatively functional SNPs and INDELs, based on population frequency and sharing between affected relatives. Results We identified a disruptive INDEL in SERPINA1 carried by affected members of 10 families, and a disruptive INDEL in PCDHGA9 shared between all affected relatives in a pedigree which contributed substantially to a published linkage finding at 5q31-34. Individual burden scores of rare disruptive variants are markedly greater among affected subjects (P=0.00076) and their unaffected relatives (P=0.00034). Next, we compared lists of genes carrying family-specific variants shared among affected relatives to curated, etiologically relevant gene-sets. Following correction for multiple tests, we observed a significant overlap of genes carrying disruptive or non-synonymous variants in the PIC with genes enriched for de novo non-synonymous variants (P=5.9E-5), associated SCZ GWAS intervals (P=3.48E-4), and human post-synaptic density genes (P=9.14E-4). Genes with disruptive or non-synonymous variants also exhibited significant overlap with de novo findings for autism and intellectual disability, autism PPI networks, and FMRP targets. Discussion We demonstrate the polygenic enrichment of rare, disruptive variants in multiply-affected families from a geographically isolated archipelago. This recapitulates the pattern of results observed for common polygenic risk scores constructed from population-based GWAS, for which the comparisons of affected and unaffected relatives to controls were also significant (P=0.01 and P=0.02, respectively). Ongoing analyses include prioritization of variants leveraged by observed population structure of these geographically isolated island populations, and attempted replication of prioritized variants an independent sample of 220 SZ cases and 185 controls from the Genomic Psychiatry Cohort (GPC).
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- 2019
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7. The association between lower educational attainment and depression owing to shared genetic effects? Results in ∼25 000 subjects: Results in ~25,000 subjects
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Peyrot, W. J., Lee, S. H., Milaneschi, Y., Abdellaoui, A., Byrne, E. M., Esko, T., de Geus, E. J. C., Hemani, G., Hottenga, J. J., Kloiber, S., Levinson, D. F., Lucae, S., Martin, N. G., Medland, S. E., Metspalu, A., Milani, L., Noethen, M. M., Potash, J. B., Rietschel, M., Rietveld, C. A., Ripke, S., Shi, J., Willemsen, G., Zhu, Z., Boomsma, D. I., Wray, N. R., Penninx, B. W. J. H., Lewis, C. M., Hamilton, S. P., Weissman, M. M., Breen, G., Blackwood, D. H., Cichon, S., Heath, A. C., Holsboer, F., Madden, Pamela A., McGuffin, P., Muglia, P., Pergadia, M. L., Lin, D., Müller-Myhsok, B., Steinberg, S., Grabe, H. J., Lichtenstein, P., Magnusson, P., Perlis, R. H., Preisig, M., Smoller, J. W., Stefansson, K., Uher, R., Kutalik, Z., Tansey, K. E., Teumer, A., Viktorin, A., Barnes, M. R., Bettecken, T., Binder, E. B., Breuer, R., Castro, V. M., Churchill, S. E., Coryell, W. H., Craddock, N., Craig, I. W., Czamara, D., Degenhardt, F., Farmer, A. E., Fava, M., Frank, J., Gainer, V. S., Gallagher, P. J., Gordon, S. D., Goryachev, S., Gross, M., Guipponi, M., Henders, A. K., Herms, S., Hickie, I. B., Hoefels, S., Hoogendijk, W., Iosifescu, D. V., Ising, M., Jones, I., Jones, L., Jung-Ying, T., Knowles, J. A., Kohane, I. S., Kohli, M. A., Korszun, A., Landen, M., Lawson, W. B., Lewis, G., Macintyre, D., Maier, W., Mattheisen, M., McGrath, P. J., McIntosh, A., McLean, A., Middeldorp, C. M., Middleton, L., Montgomery, G. M., Murphy, S. N., Nauck, M., Nolen, W. A., Nyholt, Dale R., O'Donovan, M., Oskarsson, H., Pedersen, N., Scheftner, W. A., Schulz, A., Schulze, T. G., Shyn, S. I., Sigurdsson, E., Slager, S. L., Smit, J. H., Stefansson, H., Steffens, M., Thorgeirsson, T., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E. J., van Grootheest, G., Völzke, H., Weilburg, J. B., Zitman, F. G., Neale, B., Daly, M., Sullivan, P. F., Agrawal, Arpana, Albrecht, Eva, Z Alizadeh, Behrooz, Allik, J. ri, Amin, Najaf, Attia, John R., Bandinelli, Stefania, Barnard, John, Bastardot, Franois, e Baumeister, Sebastian, Beauchamp, Jonathan, Benjamin, Daniel J., Benke, Kelly S., Bennett, David A., Berger, Klaus, Bielak, Lawrence F., Bierut, Laura J., Boatman, Jeffrey A., Boyle, Patricia A., Bültmann, Ute, Campbell, Harry, Cesarini, David, Chabris, Christopher F., Cherkas, Lynn, Chung, Mina K., Conley, Dalton, Cucca, Francesco, Davey-Smith, George, Davies, Gail, de Andrade, Mariza, de Jager, Philip L., de Leeuw, Christiaan, de Neve, Jan-Emmanuel, Deary, Ian J., Dedoussis, George V., Deloukas, Panos, Derringer, Jaime, Dimitriou, Maria, Eiriksdottir, Gudny, Eklund, Niina, Elderson, Martin F., Eriksson, Johan G., Evans, Daniel S., Evans, David M., Faul, Jessica D., Fehrmann, Rudolf, Ferrucci, Luigi, Fischer, Krista, Franke, Lude, Garcia, Melissa E., Gieger, Christian, Gjessing, Hkon K., Groenen, Patrick J. F., Grönberg, Henrik, Gudnason, Vilmundur, Hägg, Sara, Hall, Per, Harris, Jennifer R., Harris, Juliette M., Harris, Tamara B., Hastie, Nicholas D., Hayward, Caroline, Hernandez, Dena G., Hoffmann, Wolgang, Hofman, Adriaan, Hofman, Albert, Holle, Rolf, Holliday, Elizabeth G., Holzapfel, Christina, Iacono, William G., Ibrahim-Verbaas, Carla A., Illig, Thomas, Ingelsson, Erik, Jacobsson, Bo, Järvelin, Marjo-Riitta, Jhun, Min A., Johannesson, Magnus, Joshi, Peter K., Jugessur, Astanand, Kaakinen, Marika, Kähönen, Mika, Kanoni, Stavroula, Kaprio, Jaakkko, Kardia, Sharon L. R., Karjalainen, Juha, Kirkpatrick, Robert M., Koellinger, Philipp D., Kolcic, Ivana, Kowgier, Matthew, Kristiansson, Kati, Krueger, Robert F., Kutalik, Z. ltan, Lahti, Jari, Laibson, David, Latvala, Antti, Launer, Lenore J., Lawlor, Debbie A., Lethimäki, Terho, Li, Jingmei, Lichtenstein, Paul, Lichtner, Peter K., Liewald, David C., Lin, Peng, Lind, Penelope A., Liu, Yongmei, Lohman, Kurt, Loitfelder, Marisa, Magnusson, Patrick K. E., Mäkinen, Tomi E., Vidal, Pedro Marques, Martin, Nicolas W., Masala, Marco, McGue, Matt, McMahon, George, Meirelles, Osorio, Meyer, Michelle N., Mielck, Andreas, Miller, Michael B., Montgomery, Grant W., Mukherjee, Sutapa, Myhre, Ronny, Nuotio, Marja-Liisa, J Oldmeadow, Christopher, Oostra, Ben A., Palmer, Lyle J., Palotie, Aarno, Perola, Markus, Petrovic, Katja E., Peyser, Patricia A., Polašek, Ozren, Posthuma, Danielle, Preisig, Martin, Quaye, Lydia, Räikkönen, Katri, Raitakari, Olli T., Realo, Anu, Reinmaa, Eva, Rice, John P., Ring, Susan M., Ripatti, Samuli, Rivadeneira, Fernando, Rizzi, Thais S., Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sarin, Antti-Pekka, Schlessinger, David, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Shakhbazov, Konstantin, Smith, Albert V., Smith, Jennifer A., Snieder, Harold, St Pourcain, Beate, Starr, John M., Sul, Jae Hoon, Surakka, Ida, Svento, Rauli, Tanaka, Toshiko, Terracciano, Antonio, Teumer, Alexander, Thurik, A. Roy, Tiemeier, Henning, Timpson, Nicholas J., Uitterlinden, André G., van der Loos, Matthijs J. H. M., van Duijn, Cornelia M., van Rooij, Frank J. A., van Wagoner, David R., Vartiainen, Erkki, Viikari, Jorma, Visscher, Peter M., Vitart, Veronique, Vollenweider, Peter K., Völzke, Henry, Vonk, Judith M., Waeber, G. rard, Weir, David R., Wellmann, J. rgen, Westra, Harm-Jan, Wichmann, H. Erich, Widen, Elisabeth, Wilson, James F., Wright, Alan F., Yang, Jian, Yu, Lei, Zhao, Wei, and Academic Medical Center
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Adult ,Male ,Psychiatric Status Rating Scales ,Likelihood Functions ,Genotype ,Estonia/epidemiology ,Netherlands/epidemiology ,Depressive Disorder, Major/epidemiology ,Middle Aged ,Polymorphism, Single Nucleotide/genetics ,Cohort Studies ,Odds Ratio ,Educational Status ,Humans ,Regression Analysis ,Female ,Gene-Environment Interaction ,Genetic Association Studies ,Aged - Abstract
An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14 949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15 138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884 105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ∼120 000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.
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- 2015
8. Common variants at 12q15 and 12q24 are associated with infant head circumference
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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
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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
- Full Text
- View/download PDF
9. A genome-wide approach to children's aggressive behavior: The EAGLE consortium
- Author
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Nicholas J. Timpson, Michel G. Nivard, Craig E. Pennell, Harold Snieder, Gareth E. Davies, Christel M. Middeldorp, Fernando Rivadeneira, Ilkka Seppälä, Carla M. T. Tiesler, Susan M. Ring, Marie Standl, James J. Hudziak, Kelly S. Benke, Viara R. Mileva-Seitz, Fleur P. Velders, George Davey Smith, Christine Power, Alina Rodriguez, John P. Kemp, René Veenstra, Beate St Pourcain, Harald Grallert, Liisa Keltikangas-Järvinen, Maria M. Groen-Blokhuis, Elina Hyppönen, Irene Pappa, David M. Evans, Marian J. Bakermans-Kranenburg, Joachim Heinrich, Marie-Claude Geoffroy, Christian Hakulinen, Albertine J. Oldehinkel, Dorret I. Boomsma, Elisabeth Thiering, Paul Scheet, George McMahon, Ilja M. Nolte, Henning Tiemeier, Alana Cavadino, Ehsan Motazedi, Terho Lehtimäki, Olli T. Raitakari, Andrew J. O. Whitehouse, Life Course Epidemiology (LCE), Sociology/ICS, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, EMGO+ - Mental Health, Child and Adolescent Psychiatry / Psychology, Erasmus MC other, Epidemiology, Internal Medicine, Psychiatry, Pappa, Irene, St, Pourcain Beate, Benke, Kelly, Cavadino, Alana, Hypponen, Elina, and Tiemeier, Henning
- Subjects
0301 basic medicine ,Male ,Netherlands Twin Register (NTR) ,Receptors, Vasopressin ,Poison control ,Vasopressin/genetics ,Genetics, Behavioral/methods ,0302 clinical medicine ,Surveys and Questionnaires ,Receptors ,Psychology ,Early childhood ,genome-wide complex trait analysis (GCTA) ,Child ,Genetics (clinical) ,education.field_of_study ,HERITABILITY ,Genetic Predisposition to Disease/genetics ,aggression ,Public Health, Global Health, Social Medicine and Epidemiology ,ASSOCIATION ,Polymorphism, Single Nucleotide/genetics ,Justice and Strong Institutions ,Aggression ,Psychiatry and Mental health ,Conduct disorder ,DUTCH TWINS ,ADOLESCENCE ,Meta-analysis ,Female ,medicine.symptom ,Single Nucleotide/genetics ,Clinical psychology ,SDG 16 - Peace ,Adolescent ,Population ,Aggression/physiology ,Single-nucleotide polymorphism ,Genetics, Behavioral ,Biology ,Polymorphism, Single Nucleotide ,GENETIC ARCHITECTURE ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,medicine ,Genetics ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,EARLY-CHILDHOOD ,education ,Receptors, Vasopressin/genetics ,Genetic Association Studies ,childhood ,Behavioral/methods ,Behavior ,Psykologi ,STABILITY ,ta1184 ,SDG 16 - Peace, Justice and Strong Institutions ,Genetic Variation ,ADULTS ,medicine.disease ,Genetic architecture ,population-based ,meta-analysis ,Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ,Genetic Association Studies/methods ,030104 developmental biology ,TISSUE ,CONDUCT DISORDER ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Individual differences in aggressive behavior emerge in early childhood and predict persisting behavioral problems and disorders. Studies of antisocial and severe aggression in adulthood indicate substantial underlying biology. However, little attention has been given to genome-wide approaches of aggressive behavior in children. We analyzed data from nine population-based studies and assessed aggressive behavior using well-validated parent-reported questionnaires. This is the largest sample exploring children's aggressive behavior to date (N = 18,988), with measures in two developmental stages (N = 15,668 early childhood and N = 16,311 middle childhood/early adolescence). First, we estimated the additive genetic variance of children's aggressive behavior based on genome-wide SNP information, using genome-wide complex trait analysis (GCTA). Second, genetic associations within each study were assessed using a quasi-Poisson regression approach, capturing the highly right-skewed distribution of aggressive behavior. Third, we performed meta-analyses of genome-wide associations for both the total age-mixed sample and the two developmental stages. Finally, we performed a gene-based test using the summary statistics of the total sample. GCTA quantified variance tagged by common SNPs (10-54%). The meta-analysis of the total sample identified one region in chromosome 2 (2p12) at near genome-wide significance (top SNP rs11126630, P = 5.30 x 10(-8)). The separate meta-analyses of the two developmental stages revealed suggestive evidence of association at the same locus. The gene-based analysis indicated association of variation within AVPR1A with aggressive behavior. We conclude that common variants at 2p12 show suggestive evidence for association with childhood aggression. Replication of these initial findings is needed, and further studies should clarify its biological meaning. (C) 2015 Wiley Periodicals, Inc.
- Published
- 2016
- Full Text
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