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4. Neptune: an environment for the delivery of genomic medicine

Author

Eric, Venner, Yi, Victoria, Murdock, David, Kalla, Sara E., Wu, Tsung-Jung, Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Tian, Xia, Murugan, Mullai, Cohen, Michelle, Kovar, Christie, Wei, Wei-Qi, Chung, Wendy K., Weng, Chunhua, Wiesner, Georgia L., Jarvik, Gail P., Muzny, Donna, Gibbs, Richard A., Abrams, Debra, Adunyah, Samuel E., Albertson-Junkans, Ladia, Almoguera, Berta, Ames, Darren C., Appelbaum, Paul, Aronson, Samuel, Aufox, Sharon, Babb, Lawrence J., Balasubramanian, Adithya, Bangash, Hana, Basford, Melissa, Bastarache, Lisa, Baxter, Samantha, Behr, Meckenzie, Benoit, Barbara, Bhoj, Elizabeth, Bielinski, Suzette J., Bland, Harris T., Blout, Carrie, Borthwick, Kenneth, Bottinger, Erwin P., Bowser, Mark, Brand, Harrison, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Carrell, David, Carroll, Andrew, Castillo, Lisa, Castro, Victor, Chandanavelli, Gauthami, Chiang, Theodore, Chisholm, Rex L., Christensen, Kurt D., Chung, Wendy, Chute, Christopher G., City, Brittany, Cobb, Beth L., Connolly, John J., Crane, Paul, Crew, Katherine, Crosslin, David R., Dayal, Jyoti, De Andrade, Mariza, De la Cruz, Jessica, Denny, Josh C., Denson, Shawn, DeSmet, Tim, Dikilitas, Ozan, Dinsmore, Michael J., Dodge, Sheila, Dunlea, Phil, Edwards, Todd L., Eng, Christine M., Fasel, David, Fedotov, Alex, Feng, Qiping, Fleharty, Mark, Foster, Andrea, Freimuth, Robert, Friedrich, Christopher, Fullerton, Stephanie M., Funke, Birgit, Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Glazer, Andrew M., Glessner, Joseph T., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Green, Robert C., Gundelach, Justin H., Hain, Heather S., Hakonarson, Hakon, Harden, Maegan V., Harley, John, Harr, Margaret, Hartzler, Andrea, Hayes, M. Geoffrey, Hebbring, Scott, Henrikson, Nora, Hershey, Andrew, Hoell, Christin, Holm, Ingrid, Howell, Kayla M., Hripcsak, George, Hu, Jianhong, Hynes, Elizabeth Duffy, Jayaseelan, Joy C., Jiang, Yunyun, Joo, Yoonjung Yoonie, Jose, Sheethal, Josyula, Navya Shilpa, Justice, Anne E., Kalra, Divya, Karlson, Elizabeth W., Keating, Brendan J., Kelly, Melissa A., Kenny, Eimear E., Key, Dustin, Kiryluk, Krzysztof, Kitchner, Terrie, Klanderman, Barbara, Klee, Eric, Kochan, David C., Korchina, Viktoriya, Kottyan, Leah, Kudalkar, Emily, Rahm, Alanna Kulchak, Kullo, Iftikhar J., Lammers, Philip, Larson, Eric B., Lebo, Matthew S., Leduc, Magalie, Lee, Ming Ta (Michael), Lennon, Niall J., Leppig, Kathleen A., Leslie, Nancy D., Li, Rongling, Liang, Wayne H., Lin, Chiao-Feng, Linder, Jodell E., Lindor, Noralane M., Lingren, Todd, Linneman, James G., Liu, Cong, Liu, Wen, Liu, Xiuping, Lynch, John, Lyon, Hayley, Macbeth, Alyssa, Mahadeshwar, Harshad, Mahanta, Lisa, Malin, Bradley, Manolio, Teri, Marasa, Maddalena, Marsolo, Keith, McGowan, Michelle L., McNally, Elizabeth, Meldrim, Jim, Mentch, Frank, Rasouly, Hila Milo, Mosley, Jonathan, Mukherjee, Shubhabrata, Mullen, Thomas E., Muniz, Jesse, Murdock, David R., Murphy, Shawn, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Onofrio, Robert C., Obeng, Aniwaa Owusu, Person, Thomas N., Peterson, Josh F., Petukhova, Lynn, Pisieczko, Cassandra J., Pratap, Siddharth, Prows, Cynthia A., Puckelwartz, Megan J., Raj, Ritika, Ralston, James D., Ramaprasan, Arvind, Ramirez, Andrea, Rasmussen, Luke, Rasmussen-Torvik, Laura, Raychaudhuri, Soumya, Rehm, Heidi L., Ritchie, Marylyn D., Rives, Catherine, Riza, Beenish, Roden, Dan M., Rosenthal, Elisabeth A., Santani, Avni, Dan, Schaid, Scherer, Steven, Scott, Stuart, Scrol, Aaron, Sengupta, Soumitra, Shang, Ning, Sharma, Himanshu, Sharp, Richard R., Singh, Rajbir, Sleiman, Patrick M.A., Slowik, Kara, Smith, Joshua C., Smith, Maureen E., Smoot, Duane T., Smoller, Jordan W., Sohn, Sunghwan, Stanaway, Ian B., Starren, Justin, Stroud, Mary, Su, Jessica, Taylor, Casey Overby, Tolwinski, Kasia, Van Driest, Sara L., Vargas, Sean M., Varugheese, Matthew, Veenstra, David, Venner, Eric, Verbitsky, Miguel, Vicente, Gina, Wagner, Michael, Walker, Kimberly, Walunas, Theresa, Wang, Liwen, Wang, Qiaoyan, Weiss, Scott T., Wells, Quinn S., White, Peter S., Wiley, Ken L., Jr, Williams, Janet L., Williams, Marc S., Wilson, Michael W., Witkowski, Leora, Woods, Laura Allison, Woolf, Betty, Wynn, Julia, Yang, Yaping, Zhang, Ge, Zhang, Lan, and Zouk, Hana

Published
2021
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5. Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Author

Zouk, Hana, Venner, Eric, Lennon, Niall J., Muzny, Donna M., Abrams, Debra, Adunyah, Samuel, Albertson-Junkans, Ladia, Ames, Darren C., Appelbaum, Paul, Aronson, Samuel, Aufox, Sharon, Babb, Lawrence J., Balasubramanian, Adithya, Bangash, Hana, Basford, Melissa, Bastarache, Lisa, Baxter, Samantha, Behr, Meckenzie, Benoit, Barbara, Bhoj, Elizabeth, Bielinski, Suzette J., Bland, Sarah T., Blout, Carrie, Borthwick, Kenneth, Bottinger, Erwin P., Bowser, Mark, Brand, Harrison, Brilliant, Murray, Brodeur, Wendy, Caraballo, Pedro, Carrell, David, Carroll, Andrew, Almoguera, Berta, Castillo, Lisa, Castro, Victor, Chandanavelli, Gauthami, Chiang, Theodore, Chisholm, Rex L., Christensen, Kurt D., Chung, Wendy, Chute, Christopher G., City, Brittany, Cobb, Beth L., Connolly, John J., Crane, Paul, Crew, Katherine, Crosslin, David, De Andrade, Mariza, De la Cruz, Jessica, Denson, Shawn, Denny, Josh, DeSmet, Tim, Dikilitas, Ozan, Friedrich, Christopher, Fullerton, Stephanie M., Funke, Birgit, Gabriel, Stacey, Gainer, Vivian, Gharavi, Ali, Glazer, Andrew M., Glessner, Joseph T., Goehringer, Jessica, Gordon, Adam S., Graham, Chet, Green, Robert C., Gundelach, Justin H., Dayal, Jyoti, Hain, Heather S., Hakonarson, Hakon, Harden, Maegan V., Harley, John, Harr, Margaret, Hartzler, Andrea, Hayes, M. Geoffrey, Hebbring, Scott, Henrikson, Nora, Hershey, Andrew, Hoell, Christin, Holm, Ingrid, Howell, Kayla M., Hripcsak, George, Hu, Jianhong, Jarvik, Gail P., Jayaseelan, Joy C., Jiang, Yunyun, Joo, Yoonjung Yoonie, Jose, Sheethal, Josyula, Navya Shilpa, Justice, Anne E., Kalla, Sara E., Kalra, Divya, Karlson, Elizabeth, Kelly, Melissa A., Keating, Brendan J., Kenny, Eimear E., Key, Dustin, Kiryluk, Krzysztof, Kitchner, Terrie, Klanderman, Barbara, Klee, Eric, Kochan, David C., Korchina, Viktoriya, Kottyan, Leah, Kovar, Christie, Kudalkar, Emily, Kullo, Iftikhar J., Lammers, Philip, Larson, Eric B., Lebo, Matthew S., Leduc, Magalie, Lee, Ming Ta (Michael), Leppig, Kathleen A., Leslie, Nancy D., Li, Rongling, Liang, Wayne H., Lin, Chiao-Feng, Linder, Jodell, Lindor, Noralane M., Lingren, Todd, Linneman, James G., Liu, Cong, Liu, Wen, Liu, Xiuping, Lynch, John, Lyon, Hayley, Macbeth, Alyssa, Mahadeshwar, Harshad, Mahanta, Lisa, Malin, Brad, Manolio, Teri, Marasa, Maddalena, Marsolo, Keith, Dinsmore, Michael J., Dodge, Sheila, Hynes, Elizabeth Duffy, Dunlea, Phil, Edwards, Todd L., Eng, Christine M., Fasel, David, Fedotov, Alex, Feng, Qiping, Fleharty, Mark, Foster, Andrea, Freimuth, Robert, McGowan, Michelle L., McNally, Elizabeth, Meldrim, Jim, Mentch, Frank, Mosley, Jonathan, Mukherjee, Shubhabrata, Mullen, Thomas E., Muniz, Jesse, Murdock, David R., Murphy, Shawn, Murugan, Mullai, Myers, Melanie F., Namjou, Bahram, Ni, Yizhao, Obeng, Aniwaa Owusu, Onofrio, Robert C., Taylor, Casey Overby, Person, Thomas N., Peterson, Josh F., Petukhova, Lynn, Pisieczko, Cassandra J., Pratap, Siddharth, Prows, Cynthia A., Puckelwartz, Megan J., Rahm, Alanna Kulchak, Raj, Ritika, Ralston, James D., Ramaprasan, Arvind, Ramirez, Andrea, Rasmussen, Luke, Rasmussen-Torvik, Laura, Rasouly, Hila Milo, Raychaudhuri, Soumya, Ritchie, Marylyn D., Rives, Catherine, Riza, Beenish, Roden, Dan, Rosenthal, Elisabeth A., Santani, Avni, Schaid, Dan, Scherer, Steven, Scott, Stuart, Scrol, Aaron, Sengupta, Soumitra, Shang, Ning, Sharma, Himanshu, Sharp, Richard R., Singh, Rajbir, Sleiman, Patrick M.A., Slowik, Kara, Smith, Joshua C., Smith, Maureen E., Smoller, Jordan W., Sohn, Sunghwan, Stanaway, Ian B., Starren, Justin, Stroud, Mary, Su, Jessica, Tolwinski, Kasia, Van Driest, Sara L., Vargas, Sean M., Varugheese, Matthew, Veenstra, David, Verbitsky, Miguel, Vicente, Gina, Wagner, Michael, Walker, Kimberly, Walunas, Theresa, Wang, Liwen, Wang, Qiaoyan, Wei, Wei-Qi, Weiss, Scott T., Wiesner, Georgia L., Wells, Quinn, Weng, Chunhua, White, Peter S., Wiley, Ken L., Jr., Williams, Janet L., Williams, Marc S., Wilson, Michael W., Witkowski, Leora, Woods, Laura Allison, Woolf, Betty, Wu, Tsung-Jung, Wynn, Julia, Yang, Yaping, Yi, Victoria, Zhang, Ge, Zhang, Lan, Rehm, Heidi L., and Gibbs, Richard A.

Published
2019
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6. Machine Learning Prediction of Treatment Response to Inhaled Corticosteroids in Asthma.

Author

Ong, Mei-Sing, Sordillo, Joanne E., Dahlin, Amber, McGeachie, Michael, Tantisira, Kelan, Wang, Alberta L., Lasky-Su, Jessica, Brilliant, Murray, Kitchner, Terrie, Roden, Dan M., Weiss, Scott T., and Wu, Ann Chen

Subjects
MACHINE learning, ASTHMATICS, GENOME-wide association studies, RANDOM forest algorithms, ASTHMA
Abstract

Background: Although inhaled corticosteroids (ICS) are the first-line therapy for patients with persistent asthma, many patients continue to have exacerbations. We developed machine learning models to predict the ICS response in patients with asthma. Methods: The subjects included asthma patients of European ancestry (n = 1371; 448 children; 916 adults). A genome-wide association study was performed to identify the SNPs associated with ICS response. Using the SNPs identified, two machine learning models were developed to predict ICS response: (1) least absolute shrinkage and selection operator (LASSO) regression and (2) random forest. Results: The LASSO regression model achieved an AUC of 0.71 (95% CI 0.67–0.76; sensitivity: 0.57; specificity: 0.75) in an independent test cohort, and the random forest model achieved an AUC of 0.74 (95% CI 0.70–0.78; sensitivity: 0.70; specificity: 0.68). The genes contributing to the prediction of ICS response included those associated with ICS responses in asthma (TPSAB1, FBXL16), asthma symptoms and severity (ABCA7, CNN2, PTRN3, and BSG/CD147), airway remodeling (ELANE, FSTL3), mucin production (GAL3ST), leukotriene synthesis (GPX4), allergic asthma (ZFPM1, SBNO2), and others. Conclusions: An accurate risk prediction of ICS response can be obtained using machine learning methods, with the potential to inform personalized treatment decisions. Further studies are needed to examine if the integration of richer phenotype data could improve risk prediction. [ABSTRACT FROM AUTHOR]

Published
2024
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7. PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Author

Schmidt, Amand F, Swerdlow, Daniel I, Holmes, Michael V, Patel, Riyaz S, Fairhurst-Hunter, Zammy, Lyall, Donald M, Hartwig, Fernando Pires, Horta, Bernardo Lessa, Hyppönen, Elina, Power, Christine, Moldovan, Max, van Iperen, Erik, Hovingh, G Kees, Demuth, Ilja, Norman, Kristina, Steinhagen-Thiessen, Elisabeth, Demuth, Juri, Bertram, Lars, Liu, Tian, Coassin, Stefan, Willeit, Johann, Kiechl, Stefan, Willeit, Karin, Mason, Dan, Wright, John, Morris, Richard, Wanamethee, Goya, Whincup, Peter, Ben-Shlomo, Yoav, McLachlan, Stela, Price, Jackie F, Kivimaki, Mika, Welch, Catherine, Sanchez-Galvez, Adelaida, Marques-Vidal, Pedro, Nicolaides, Andrew, Panayiotou, Andrie G, Onland-Moret, N Charlotte, van der Schouw, Yvonne T, Matullo, Giuseppe, Fiorito, Giovanni, Guarrera, Simonetta, Sacerdote, Carlotta, Wareham, Nicholas J, Langenberg, Claudia, Scott, Robert, Luan, Jian'an, Bobak, Martin, Malyutina, Sofia, Pająk, Andrzej, Kubinova, Ruzena, Tamosiunas, Abdonas, Pikhart, Hynek, Husemoen, Lise Lotte Nystrup, Grarup, Niels, Pedersen, Oluf, Hansen, Torben, Linneberg, Allan, Simonsen, Kenneth Starup, Cooper, Jackie, Humphries, Steve E, Brilliant, Murray, Kitchner, Terrie, Hakonarson, Hakon, Carrell, David S, McCarty, Catherine A, Kirchner, H Lester, Larson, Eric B, Crosslin, David R, de Andrade, Mariza, Roden, Dan M, Denny, Joshua C, Carty, Cara, Hancock, Stephen, Attia, John, Holliday, Elizabeth, O'Donnell, Martin, Yusuf, Salim, Chong, Michael, Pare, Guillaume, van der Harst, Pim, Said, M Abdullah, Eppinga, Ruben N, Verweij, Niek, Snieder, Harold, Christen, Tim, Mook-Kanamori, Dennis O, Gustafsson, Stefan, Lind, Lars, Ingelsson, Erik, Pazoki, Raha, Franco, Oscar, Hofman, Albert, Uitterlinden, Andre, Dehghan, Abbas, Teumer, Alexander, Baumeister, Sebastian, Dörr, Marcus, Lerch, Markus M, Völker, Uwe, Völzke, Henry, Ward, Joey, Pell, Jill P, Smith, Daniel J, Meade, Tom, Maitland-van der Zee, Anke H, Baranova, Ekaterina V, Young, Robin, Ford, Ian, Campbell, Archie, Padmanabhan, Sandosh, Bots, Michiel L, Grobbee, Diederick E, Froguel, Philippe, Thuillier, Dorothée, Balkau, Beverley, Bonnefond, Amélie, Cariou, Bertrand, Smart, Melissa, Bao, Yanchun, Kumari, Meena, Mahajan, Anubha, Ridker, Paul M, Chasman, Daniel I, Reiner, Alex P, Lange, Leslie A, Ritchie, Marylyn D, Asselbergs, Folkert W, Casas, Juan-Pablo, Keating, Brendan J, Preiss, David, Hingorani, Aroon D, and Sattar, Naveed

Published
2017
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9. Probing the Virtual Proteome to Identify Novel Disease Biomarkers

Author

Mosley, Jonathan D., Benson, Mark D., Smith, J. Gustav, Melander, Olle, Ngo, Debby, Shaffer, Christian M., Ferguson, Jane F., Herzig, Matthew S., McCarty, Catherine A., Chute, Christopher G., Jarvik, Gail P., Gordon, Adam S., Palmer, Melody R., Crosslin, David R., Larson, Eric B., Carrell, David S., Kullo, Iftikhar J., Pacheco, Jennifer A., Peissig, Peggy L., Brilliant, Murray H., Kitchner, Terrie E., Linneman, James G., Namjou, Bahram, Williams, Marc S., Ritchie, Marylyn D., Borthwick, Kenneth M., Kiryluk, Krzysztof, Mentch, Frank D., Sleiman, Patrick M., Karlson, Elizabeth W., Verma, Shefali S., Zhu, Yineng, Vasan, Ramachandran S., Yang, Qiong, Denny, Josh C., Roden, Dan M., Gerszten, Robert E., and Wang, Thomas J.

Published
2018
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14. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

Author

Van Driest, Sara L., Wells, Quinn S., Stallings, Sarah, Bush, William S., Gordon, Adam, Nickerson, Deborah A., Kim, Jerry H., Crosslin, David R., Jarvik, Gail P., Carrell, David S., Ralston, James D., Larson, Eric B., Bielinski, Suzette J., Olson, Janet E., Ye, Zi, Kullo, Iftikhar J., Abul-Husn, Noura S., Scott, Stuart A., Bottinger, Erwin, Almoguera, Berta, Connolly, John, Chiavacci, Rosetta, Hakonarson, Hakon, Rasmussen-Torvik, Laura J., Pan, Vivian, Persell, Stephen D., Smith, Maureen, Chisholm, Rex L., Kitchner, Terrie E., He, Max M., Brilliant, Murray H., Wallace, John R., Doheny, Kimberly F., Shoemaker, M. Benjamin, Li, Rongling, Manolio, Teri A., Callis, Thomas E., Macaya, Daniela, Williams, Marc S., Carey, David, Kapplinger, Jamie D., Ackerman, Michael J., Ritchie, Marylyn D., Denny, Joshua C., and Roden, Dan M.

Published
2016
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15. Desiderata for computable representations of electronic health records-driven phenotype algorithms

Author

Mo, Huan, Thompson, William K, Rasmussen, Luke V, Pacheco, Jennifer A, Jiang, Guoqian, Kiefer, Richard, Zhu, Qian, Xu, Jie, Montague, Enid, Carrell, David S, Lingren, Todd, Mentch, Frank D, Ni, Yizhao, Wehbe, Firas H, Peissig, Peggy L, Tromp, Gerard, Larson, Eric B, Chute, Christopher G, Pathak, Jyotishman, Denny, Joshua C, Speltz, Peter, Kho, Abel N, Jarvik, Gail P, Bejan, Cosmin A, Williams, Marc S, Borthwick, Kenneth, Kitchner, Terrie E, Roden, Dan M, and Harris, Paul A

Published
2015
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16. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

Author

Brothers, Kyle B., Holm, Ingrid A., Childerhose, Janet E., Antommaria, Armand H.M., Bernhardt, Barbara A., Clayton, Ellen Wright, Gelb, Bruce D., Joffe, Steven, Lynch, John A., McCormick, Jennifer B., McCullough, Laurence B., Parsons, Williams D., Sundaresan, Agnes S., Wolf, Wendy A., Yu, Joon-Ho, Wilfond, Benjamin S., Berkman, Benjamin E., Biesecker, Leslie G., Hull, Sara C., Biswas, Sawona, Chung, Wendy K., Koenig, Barbara, Lehmann, Lisa S., Lewis, Michelle, McGuire, Amy L., Slashinski, Melody J., Ross, Lainie F., Salama, Joseph S., Skinner, Debra, Tabor, Holly K., Wolf, Susan M., Perry, Cassandra, Chandler, Ariel, Cobb, Beth, Harley, John, Myers, Melanie, Chiavacci, Rosetta, Connolly, John, Faucett, Andy, Fetterolf, Samantha, Ledbetter, David, Williams, Janet, Ehrlich, Kelly, Fullerton, Malia, Hansen, Kelly, Hartzler, Andrea, Scrol, Aaron, Carruth, Lucy, Chau, Elizabeth, Chute, Chris, Kullo, Iftikhar, Sharp, Richard, Brilliant, Murray, Frost, Norm, Kitchner, Terrie, McCarty, Cathy, Ferryman, Kadija, Horowitz, Carol, Keppel, Yolanda, Rhodes, Rosamond, Sanderson, Saskia, Zinberg, Randi, Aufox, Sharon, Heathcote, Michael, Pan, Vivian, Smith, Maureen, Garrison, Nanibaaʼ, Basford, Melissa, Kirby, Jacqueline, Bodin Claar, Mollie, Melancon, Lauren, and Stallings, Sarah

Published
2016
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19. Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Author

Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, and Semina, Elena V.

Subjects
Adult, Aged, 80 and over, Male, genetic structures, DNA Mutational Analysis, Hydrophthalmos, Middle Aged, Polymerase Chain Reaction, eye diseases, Pedigree, body regions, Phenotype, Anterior Eye Segment, Child, Preschool, Cytochrome P-450 CYP1B1, Mutation, Humans, Female, sense organs, Child, Alleles, Glaucoma, Open-Angle, Research Article, Aged
Abstract

Purpose The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). Methods We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined. Results Recessive pathogenic variants in CYP1B1 were identified in two PCG pedigrees, three cases with CG and ASD, and two families with CG and other ocular defects, such as sclerocornea in one patient and microphthalmia in another individual; neither sclerocornea nor microphthalmia has been previously associated with CYP1B1. Most of the identified causative mutations are new occurrences of previously reported pathogenic alleles with two novel variants identified: a c.1325delC, p.(Pro442Glnfs*15) frameshift allele in a family with PCG and a c.157G>A, p.(Gly53Ser) variant identified in a proband with CG, Peters anomaly, and microphthalmia. Analysis of the family history in the CYP1B1-positive families revealed POAG in confirmed or presumed heterozygous relatives in one family with PCG and two families with ASD/CG; POAG was associated with the c.1064_1076del, p.(Arg355Hisfs*69) allele in two of these pedigrees. Screening of an unrelated POAG cohort identified the same c.1064_1076del heterozygous allele in one individual with sporadic POAG but not in age- and ethnicity-matched POAG-negative individuals. Overall, there was no significant enrichment for mutant alleles in CYP1B1 within the POAG cases compared to the controls. Conclusions In summary, these data expand the mutational and phenotypic spectra of CYP1B1 to include two novel alleles and additional developmental ocular phenotypes. The contribution of CYP1B1 to POAG is less clear, but loss-of-function variants in CYP1B1, especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.

Published
2016

20. Additional file 2: of Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Author

Schmidt, Amand, Holmes, Michael, Preiss, David, Swerdlow, Daniel, Denaxas, Spiros, Ghazaleh Fatemifar, Faraway, Rupert, Finan, Chris, Valentine, Dennis, Zammy Fairhurst-Hunter, Hartwig, Fernando, Horta, Bernardo, Hypponen, Elina, Power, Christine, Moldovan, Max, Iperen, Erik, Hovingh, Kees, Demuth, Ilja, Norman, Kristina, Steinhagen-Thiessen, Elisabeth, Demuth, Juri, Bertram, Lars, Lill, Christina, Coassin, Stefan, Willeit, Johann, Kiechl, Stefan, Willeit, Karin, Mason, Dan, Wright, John, Morris, Richard, Goya Wanamethee, Whincup, Peter, Ben-Shlomo, Yoav, McLachlan, Stela, Price, Jackie, Kivimaki, Mika, Welch, Catherine, Sanchez-Galvez, Adelaida, Marques-Vidal, Pedro, Nicolaides, Andrew, Andrie Panayiotou, N. Onland-Moret, Schouw, Yvonne, Matullo, Giuseppe, Fiorito, Giovanni, Guarrera, Simonetta, Sacerdote, Carlotta, Wareham, Nicholas, Langenberg, Claudia, Scott, Robert, Jian’An Luan, Bobak, Martin, Malyutina, Sofia, K, Andrzej PajÄ, Ruzena Kubinova, Abdonas Tamosiunas, Pikhart, Hynek, Grarup, Niels, Pedersen, Oluf, Hansen, Torben, Linneberg, Allan, Jess, Tine, Cooper, Jackie, Humphries, Steve, Brilliant, Murray, Kitchner, Terrie, Hakon Hakonarson, Carrell, David, McCarty, Catherine, Kirchner Lester, Larson, Eric, Crosslin, David, Mariza Andrade, Roden, Dan, Denny, Joshua, Carty, Cara, Hancock, Stephen, Attia, John, Holliday, Elizabeth, Scott, Rodney, Schofield, Peter, O’Donnell, Martin, Yusuf, Salim, Chong, Michael, Pare, Guillaume, Harst, Pim, M. Said, Eppinga, Ruben, Verweij, Niek, Snieder, Harold, Christen, Tim, D. Mook-Kanamori, Gustafsson, Stefan, Lind, Lars, Ingelsson, Erik, Raha Pazoki, Franco, Oscar, Hofman, Albert, Uitterlinden, Andre, Dehghan, Abbas, Teumer, Alexander, Baumeister, Sebastian, DĂśrr, Marcus, Lerch, Markus, VĂślker, Uwe, VĂślzke, Henry, Ward, Joey, Pell, Jill, Meade, Tom, Christophersen, Ingrid, Zee, Anke Maitland-Van Der, Baranova, Ekaterina, Young, Robin, Ford, Ian, Campbell, Archie, Sandosh Padmanabhan, Bots, Michiel, Grobbee, Diederick, Froguel, Philippe, DorothĂŠe Thuillier, Roussel, Ronan, AmĂŠlie Bonnefond, Cariou, Bertrand, Smart, Melissa, Yanchun Bao, Kumari, Meena, Anubha Mahajan, Hopewell, Jemma, Seshadri, Sudha, Dale, Caroline, Costa, Rui, Ridker, Paul, Chasman, Daniel, Reiner, Alex, Ritchie, Marylyn, Lange, Leslie, Cornish, Alex, Dobbins, Sara, Hemminki, Kari, Kinnersley, Ben, Sanson, Marc, Labreche, Karim, Simon, Matthias, Bondy, Melissa, Law, Philip, Speedy, Helen, Allan, James, Li, Ni, Went, Molly, Weinhold, Niels, Morgan, Gareth, Sonneveld, Pieter, BjĂśrn Nilsson, Goldschmidt, Hartmut, Sud, Amit, Engert, Andreas, Hansson, Markus, Hemingway, Harry, Asselbergs, Folkert, Riyaz Patel, Keating, Brendan, Sattar, Naveed, Houlston, Richard, Casas, Juan, and Aroon Hingorani

Abstract

Supplemental figures and study acknowledgments. (PDF 154 kb)

Published
2019
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22. A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene

Author

Guo, Shicheng, primary, Jiang, Shuai, additional, Epperla, Narendranath, additional, Ma, Yanyun, additional, Maadooliat, Mehdi, additional, Ye, Zhan, additional, Olson, Brent, additional, Wang, Minghua, additional, Kitchner, Terrie, additional, Joyce, Jeffrey, additional, An, Peng, additional, Wang, Fudi, additional, Strenn, Robert, additional, Mazza, Joseph J., additional, Meece, Jennifer K., additional, Wu, Wenyu, additional, Jin, Li, additional, Smith, Judith A., additional, Wang, Jiucun, additional, and Schrodi, Steven J., additional

Published
2019
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23. Dietary intake in the Personalized Medicine Research Project: a resource for studies of gene-diet interaction

Author

Kitchner Terrie, Foth Wendy, Cross Deanna, Berg Richard, Strobush Lacie, Coleman Laura, and McCarty Catherine A

Subjects
Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627
Abstract

Abstract Background To describe the dietary intake of participants in the Personalized Medicine Research Project (PMRP), and to quantify differences in nutrient intake by smoking status and APOE4-a genetic marker that has been shown to modify the association between risk factors and outcomes. Methods The PMRP is a population-based DNA, plasma and serum biobank of more than 20,000 adults aged 18 years and older in central Wisconsin. A questionnaire at enrollment captures demographic information as well as self-reported smoking and alcohol intake. The protocol was amended to include the collection of dietary intake and physical activity via self-reported questionnaires: the National Cancer Institute 124-item Diet History Questionnaire and the Baecke Physical Activity Questionnaire. These questionnaires were mailed out to previously enrolled participants. APOE was genotyped in all subjects. Results The response rate to the mailed questionnaires was 68.2% for subjects who could still be contacted (alive with known address). Participants ranged in age from 18 to 98 years (mean 54.7) and 61% were female. Dietary intake is variable when comparing gender, age, smoking, and APOE4. Over 50% of females are dietary supplement users; females have higher supplement intake than males, but both have increasing supplement use as age increases. Food energy, total fat, cholesterol, protein, and alcohol intake decreases as both males and females age. Female smokers had higher macronutrient intake, whereas male nonsmokers had higher macronutrient intake. Nonsmokers in both genders use more supplements. In females, nonsmokers and smokers with APOE4 had higher supplement use. In males, nonsmokers with APOE4 had higher supplement use between ages 18-39 only, and lower supplement use at ages above 39. Male smokers with APOE4 had lower supplement use. Conclusion Dietary intake in PMRP subjects is relatively consistent with data from the National Health and Nutrition Examination Survey (NHANES). Findings suggest a possible correlation between the use of supplements and APOE4. The PMRP dietary data can benefit studies of gene-environment interactions and the development of common diseases.

Published
2011
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24. Enrichment sampling for a multi-site patient survey using electronic health records and census data

Author

Mercaldo, Nathaniel D, primary, Brothers, Kyle B, additional, Carrell, David S, additional, Clayton, Ellen W, additional, Connolly, John J, additional, Holm, Ingrid A, additional, Horowitz, Carol R, additional, Jarvik, Gail P, additional, Kitchner, Terrie E, additional, Li, Rongling, additional, McCarty, Catherine A, additional, McCormick, Jennifer B, additional, McManus, Valerie D, additional, Myers, Melanie F, additional, Pankratz, Joshua J, additional, Shrubsole, Martha J, additional, Smith, Maureen E, additional, Stallings, Sarah C, additional, Williams, Janet L, additional, and Schildcrout, Jonathan S, additional

Published
2018
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25. Development of an Integrated Platform Using Multidisciplinary Real‐World Data to Facilitate Biomarker Discovery for Medical Products.

Author

Dabic, Stefan, Azarbaijani, Yasameen, Karapetyan, Tigran, Loyo‐Berrios, Nilsa, Simonyan, Vahan, Kitchner, Terrie, Brilliant, Murray, and Torosyan, Yelizaveta

Subjects
MEDICAL equipment, MEDICAL research, MEDICAL supplies, TOTAL hip replacement, GENE regulatory networks, TRANSLATIONAL research, SINGLE nucleotide polymorphisms
Abstract

Translational multidisciplinary research is important for the Center for Devices and Radiological Health's efforts for utilizing real‐world data (RWD) to enhance predictive evaluation of medical device performance in patient subpopulations. As part of our efforts for developing new RWD‐based evidentiary approaches, including in silico discovery of device‐related risk predictors and biomarkers, this study aims to characterize the sex/race‐related trends in hip replacement outcomes and identify corresponding candidate single nucleotide polymorphisms (SNPs). Adverse outcomes were assessed by deriving RWD from a retrospective analysis of hip replacement hospital discharge data from the National Inpatient Sample (NIS). Candidate SNPs were explored using pre‐existing data from the Personalized Medicine Research Project (PMRP). High‐Performance Integrated Virtual Environment was used for analyzing and visualizing putative associations between SNPs and adverse outcomes. Ingenuity Pathway Analysis (IPA) was used for exploring plausibility of the sex‐related candidate SNPs and characterizing gene networks associated with the variants of interest. The NIS‐based epidemiologic evidence showed that periprosthetic osteolysis (PO) was most prevalent among white men. The PMRP‐based genetic evidence associated the PO‐related male predominance with rs7121 (odds ratio = 4.89; 95% confidence interval = 1.41−17.05) and other candidate SNPs. SNP‐based IPA analysis of the expected gene expression alterations and corresponding signaling pathways suggested possible role of sex‐related metabolic factors in development of PO, which was substantiated by ad hoc epidemiologic analysis identifying the sex‐related differences in metabolic comorbidities in men vs. women with hip replacement‐related PO. Thus, our in silico study illustrates RWD‐based evidentiary approaches that may facilitate cost/time‐efficient discovery of biomarkers for informing use of medical products. [ABSTRACT FROM AUTHOR]

Published
2020
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26. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

Author

Berkman, Benjamin E., Biesecker, Leslie G., Hull, Sara C., Biswas, Sawona, Chung, Wendy K., Koenig, Barbara, Lehmann, Lisa S., Lewis, Michelle, McGuire, Amy L., Slashinski, Melody J., Ross, Lainie F., Salama, Joseph S., Skinner, Debra, Tabor, Holly K., Wolf, Susan M., Perry, Cassandra, Chandler, Ariel, Cobb, Beth, Harley, John, Myers, Melanie, Chiavacci, Rosetta, Connolly, John, Faucett, Andy, Fetterolf, Samantha, Ledbetter, David, Williams, Janet, Ehrlich, Kelly, Fullerton, Malia, Hansen, Kelly, Hartzler, Andrea, Scrol, Aaron, Carruth, Lucy, Chau, Elizabeth, Chute, Chris, Kullo, Iftikhar, Sharp, Richard, Brilliant, Murray, Frost, Norm, Kitchner, Terrie, McCarty, Cathy, Ferryman, Kadija, Horowitz, Carol, Keppel, Yolanda, Rhodes, Rosamond, Sanderson, Saskia, Zinberg, Randi, Aufox, Sharon, Heathcote, Michael, Pan, Vivian, Smith, Maureen, Garrison, Nanibaa', Basford, Melissa, Kirby, Jacqueline, Bodin Claar, Mollie, Melancon, Lauren, Stallings, Sarah, Brothers, Kyle B., Holm, Ingrid A., Childerhose, Janet E., Antommaria, Armand H.M., Bernhardt, Barbara A., Clayton, Ellen Wright, Gelb, Bruce D., Joffe, Steven, Lynch, John A., McCormick, Jennifer B., McCullough, Laurence B., Parsons, D. Williams, Sundaresan, Agnes S., Wolf, Wendy A., Yu, Joon-Ho, and Wilfond, Benjamin S.

Published
2016
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27. Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Author

Schmidt, Amand F, primary, Holmes, Michael V, additional, Preiss, David, additional, Swerdlow, Daniel, additional, Denaxas, Spiros, additional, Fatemifar, Ghazaleh, additional, Faraway, Rupert, additional, Finan, Chris, additional, Lumbers, Tom, additional, Henry, Albert, additional, Valentine, Dennis, additional, Fairhurst-Hunter, Zammy, additional, Hartwig, Fernando Pires, additional, Horta, Bernardo Lessa, additional, Hypponen, Elina, additional, Power, Christine, additional, Moldovan, Max, additional, van Iperen, Erik, additional, Hovingh, Kees, additional, Demuth, Ilja, additional, Norman, Kristina, additional, Steinhagen-Thiessen, Elisabeth, additional, Demuth, Juri, additional, Bertram, Lars, additional, Lill, Christina M, additional, Coassin, Stefan, additional, Willeit, Johann, additional, Kiechl, Stefan, additional, Willeit, Karin, additional, Mason, Dan, additional, Wright, John, additional, Morris, Richard, additional, Wanamethee, Goya, additional, Whincup, Peter, additional, Ben-Shlomo, Yoav, additional, McLachlan, Stela, additional, Price, Jackie F., additional, Kivimaki, Mika, additional, Welch, Catherine, additional, Sanchez-Galvez, Adelaida, additional, Marques-Vidal, Pedro, additional, Nicolaides, Andrew, additional, Panayiotou, Andrie G., additional, Onland-Moret, N. Charlotte, additional, van der Schouw, Yvonne T., additional, Matullo, Giuseppe, additional, Fiorito, Giovanni, additional, Guarrera, Simonetta, additional, Sacerdote, Carlotta, additional, Wareham, Nicholas J, additional, Langenberg, Claudia, additional, Scott, Robert A, additional, Luan, Jian’an, additional, Bobak, Martin, additional, Malyutina, Sofia, additional, Pajak, Andrzej, additional, Kubinova, Ruzena, additional, Tamosiunas, Abdonas, additional, Pikhart, Hynek, additional, Grarup, Niels, additional, Pedersen, Oluf, additional, Hansen, Torben, additional, Linneberg, Allan, additional, Jess, Tine, additional, Cooper, Jackie, additional, Humphries, Steve E, additional, Brilliant, Murray, additional, Kitchner, Terrie, additional, Hakonarson, Hakon, additional, Carrell, David S., additional, McCarty, Catherine A., additional, Lester, Kirchner H, additional, Larson, Eric B., additional, Crosslin, David R., additional, Andrade, Mariza de, additional, Roden, Dan M, additional, Denny, Joshua C, additional, Carty, Cara, additional, Hancock, Stephen, additional, Attia, John, additional, Holliday, Elizabeth, additional, Scott, Rodney, additional, Schofield, Peter, additional, O’Donnell, Martin, additional, Yusuf, Salim, additional, Chong, Michael, additional, Pare, Guillaume, additional, van der Harst, Pim, additional, Said, M. Abdullah, additional, Eppinga, Ruben N., additional, Verweij, Niek, additional, Snieder, Harold, additional, Christen, Tim, additional, Mook-Kanamori, D.O., additional, Gustafsson, Stefan, additional, Lind, Lars, additional, Ingelsson, Erik, additional, Pazoki, Raha, additional, Franco, Oscar, additional, Hofman, Albert, additional, Uitterlinden, Andre, additional, Dehghan, Abbas, additional, Teumer, Alexander, additional, Baumeister, Sebastian, additional, Dörr, Marcus, additional, Lerch, Markus M., additional, Völker, Uwe, additional, Völzke, Henry, additional, Ward, Joey, additional, Pell, Jill P, additional, Meade, Tom, additional, Christophersen, Ingrid E., additional, Maitland-van der Zee, Anke H., additional, Baranova, Ekaterina V., additional, Young, Robin, additional, Ford, Ian, additional, Campbell, Archie, additional, Padmanabhan, Sandosh, additional, Bots, Michiel L, additional, Grobbee, Diederick E., additional, Froguel, Philippe, additional, Thuillier, Dorothée, additional, Roussel, Ronan, additional, Bonnefond, Amelie, additional, Cariou, Bertrand, additional, Smart, Melissa, additional, Bao, Yanchun, additional, Kumari, Meena, additional, Mahajan, Anubha, additional, Hopewell, Jemma C., additional, Seshadri, Sudha, additional, Dale, Caroline, additional, Costa, Rui Providencia E, additional, Ridker, Paul M, additional, Chasman, Daniel I., additional, Reiner, Alex P., additional, Ritchie, Marylyn D, additional, Lange, Leslie A, additional, Cornish, Alex J., additional, Dobbins, Sara E., additional, Hemminki, Kari, additional, Kinnersley, Ben, additional, Sanson, Marc, additional, Labreche, Karim, additional, Simon, Matthias, additional, Bondy, Melissa, additional, Law, Philip, additional, Speedy, Helen, additional, Allan, James, additional, Li, Ni, additional, Went, Molly, additional, Weinhold, Niels, additional, Morgan, Gareth, additional, Sonneveld, Pieter, additional, Nilsson, Björn, additional, Goldschmidt, Hartmut, additional, Sud, Amit, additional, Engert, Andreas, additional, Hansson, Markus, additional, Hemingway, Harry, additional, Asselbergs, Folkert W, additional, Patel, Riyaz S, additional, Keating, Brendan J, additional, Sattar, Naveed, additional, Houlston, Richard, additional, Casas, Juan P, additional, and Hingorani, Aroon D, additional

Published
2018
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28. PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

Author

Hall, Molly A., primary, Wallace, John, additional, Lucas, Anastasia, additional, Kim, Dokyoon, additional, Basile, Anna O., additional, Verma, Shefali S., additional, McCarty, Cathy A., additional, Brilliant, Murray H., additional, Peissig, Peggy L., additional, Kitchner, Terrie E., additional, Verma, Anurag, additional, Pendergrass, Sarah A., additional, Dudek, Scott M., additional, Moore, Jason H., additional, and Ritchie, Marylyn D., additional

Published
2017
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30. Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience

Author

Rohrer Vitek, Carolyn R, primary, Abul-Husn, Noura S, additional, Connolly, John J, additional, Hartzler, Andrea L, additional, Kitchner, Terrie, additional, Peterson, Josh F, additional, Rasmussen, Luke V, additional, Smith, Maureen E, additional, Stallings, Sarah, additional, Williams, Marc S, additional, Wolf, Wendy A, additional, and Prows, Cynthia A, additional

Published
2017
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31. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US

Author

Sanderson, Saskia C., primary, Brothers, Kyle B., additional, Mercaldo, Nathaniel D., additional, Clayton, Ellen Wright, additional, Antommaria, Armand H. Matheny, additional, Aufox, Sharon A., additional, Brilliant, Murray H., additional, Campos, Diego, additional, Carrell, David S., additional, Connolly, John, additional, Conway, Pat, additional, Fullerton, Stephanie M., additional, Garrison, Nanibaa’ A., additional, Horowitz, Carol R., additional, Jarvik, Gail P., additional, Kaufman, David, additional, Kitchner, Terrie E., additional, Li, Rongling, additional, Ludman, Evette J., additional, McCarty, Catherine A., additional, McCormick, Jennifer B., additional, McManus, Valerie D., additional, Myers, Melanie F., additional, Scrol, Aaron, additional, Williams, Janet L., additional, Shrubsole, Martha J., additional, Schildcrout, Jonathan S., additional, Smith, Maureen E., additional, and Holm, Ingrid A., additional

Published
2017
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32. Enrichment sampling for a multi-site patient survey using electronic health records and census data.

Author

Mercaldo, Nathaniel D, Brothers, Kyle B, Carrell, David S, Clayton, Ellen W, Connolly, John J, Holm, Ingrid A, Horowitz, Carol R, Jarvik, Gail P, Kitchner, Terrie E, Li, Rongling, McCarty, Catherine A, McCormick, Jennifer B, McManus, Valerie D, Myers, Melanie F, Pankratz, Joshua J, Shrubsole, Martha J, Smith, Maureen E, Stallings, Sarah C, Williams, Janet L, and Schildcrout, Jonathan S

Abstract

Objective: We describe a stratified sampling design that combines electronic health records (EHRs) and United States Census (USC) data to construct the sampling frame and an algorithm to enrich the sample with individuals belonging to rarer strata.Materials and Methods: This design was developed for a multi-site survey that sought to examine patient concerns about and barriers to participating in research studies, especially among under-studied populations (eg, minorities, low educational attainment). We defined sampling strata by cross-tabulating several socio-demographic variables obtained from EHR and augmented with census-block-level USC data. We oversampled rarer and historically underrepresented subpopulations.Results: The sampling strategy, which included USC-supplemented EHR data, led to a far more diverse sample than would have been expected under random sampling (eg, 3-, 8-, 7-, and 12-fold increase in African Americans, Asians, Hispanics and those with less than a high school degree, respectively). We observed that our EHR data tended to misclassify minority races more often than majority races, and that non-majority races, Latino ethnicity, younger adult age, lower education, and urban/suburban living were each associated with lower response rates to the mailed surveys.Discussion: We observed substantial enrichment from rarer subpopulations. The magnitude of the enrichment depends on the accuracy of the variables that define the sampling strata and the overall response rate.Conclusion: EHR and USC data may be used to define sampling strata that in turn may be used to enrich the final study sample. This design may be of particular interest for studies of rarer and understudied populations. [ABSTRACT FROM AUTHOR]

Published
2019
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33. Inhibiting FOXM1 Sensitizes Myeloma Cells to BCL2 Inhibitor Venetoclax By Repressing MYC Pathway

Author

Zhou, Vivian, Moat, Luke, Yu, Manya, Parashar, Deepak, Shour, Abdul, Zhang, Liang, Kitchner, Terrie, Shukla, Sanjay, Guo, Song, Ananiev, Gene, Katzenellenbogen, Benita S., Katzenellenbogen, John, Onitilo, Adedayo, Janz, Siegfried, and Wen, Zhi

Abstract

Background:Despite improved 5-year survival in multiple myeloma (MM), relapsed and/or refractory multiple myeloma (RRMM) remains a big challenge. Forkhead box transcription factor FOXM1 is a key regulator of metabolism and cell cycle progression in RRMM. FOXM1 is highly expressed in OPM2 and Delta47 cells compared to 9 other myeloma cell lines. Inhibiting FOXM1 function by deleting the FOXM1gene or using the small-molecule FOXM1 inhibitor, NB73, suppresses OPM2 and Delta47 cells in vitro and in vivo. We hypothesized that FOXM1-targeted inhibition of RRMM may be deepened by combining NB73 with established or candidate myeloma drugs.

Published
2023
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34. CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease

Author

Hoh, Brian L., primary, Gong, Yan, additional, McDonough, Caitrin W., additional, Waters, Michael F., additional, Royster, Adrienne J., additional, Sheehan, Tiffany O., additional, Burkley, Ben, additional, Langaee, Taimour Y., additional, Mocco, J, additional, Zuckerman, Scott L., additional, Mummareddy, Nishit, additional, Stephens, Marcus L., additional, Ingram, Christie, additional, Shaffer, Christian M., additional, Denny, Joshua C., additional, Brilliant, Murray H., additional, Kitchner, Terrie E., additional, Linneman, James G., additional, Roden, Dan M., additional, and Johnson, Julie A., additional

Published
2016
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35. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, Lars G, primary, Igl, Wilmar, additional, Bailey, Jessica N Cooke, additional, Grassmann, Felix, additional, Sengupta, Sebanti, additional, Bragg-Gresham, Jennifer L, additional, Burdon, Kathryn P, additional, Hebbring, Scott J, additional, Wen, Cindy, additional, Gorski, Mathias, additional, Kim, Ivana K, additional, Cho, David, additional, Zack, Donald, additional, Souied, Eric, additional, Scholl, Hendrik P N, additional, Bala, Elisa, additional, Lee, Kristine E, additional, Hunter, David J, additional, Sardell, Rebecca J, additional, Mitchell, Paul, additional, Merriam, Joanna E, additional, Cipriani, Valentina, additional, Hoffman, Joshua D, additional, Schick, Tina, additional, Lechanteur, Yara T E, additional, Guymer, Robyn H, additional, Johnson, Matthew P, additional, Jiang, Yingda, additional, Stanton, Chloe M, additional, Buitendijk, Gabriëlle H S, additional, Zhan, Xiaowei, additional, Kwong, Alan M, additional, Boleda, Alexis, additional, Brooks, Matthew, additional, Gieser, Linn, additional, Ratnapriya, Rinki, additional, Branham, Kari E, additional, Foerster, Johanna R, additional, Heckenlively, John R, additional, Othman, Mohammad I, additional, Vote, Brendan J, additional, Liang, Helena Hai, additional, Souzeau, Emmanuelle, additional, McAllister, Ian L, additional, Isaacs, Timothy, additional, Hall, Janette, additional, Lake, Stewart, additional, Mackey, David A, additional, Constable, Ian J, additional, Craig, Jamie E, additional, Kitchner, Terrie E, additional, Yang, Zhenglin, additional, Su, Zhiguang, additional, Luo, Hongrong, additional, Chen, Daniel, additional, Ouyang, Hong, additional, Flagg, Ken, additional, Lin, Danni, additional, Mao, Guanping, additional, Ferreyra, Henry, additional, Stark, Klaus, additional, von Strachwitz, Claudia N, additional, Wolf, Armin, additional, Brandl, Caroline, additional, Rudolph, Guenther, additional, Olden, Matthias, additional, Morrison, Margaux A, additional, Morgan, Denise J, additional, Schu, Matthew, additional, Ahn, Jeeyun, additional, Silvestri, Giuliana, additional, Tsironi, Evangelia E, additional, Park, Kyu Hyung, additional, Farrer, Lindsay A, additional, Orlin, Anton, additional, Brucker, Alexander, additional, Li, Mingyao, additional, Curcio, Christine A, additional, Mohand-Saïd, Saddek, additional, Sahel, José-Alain, additional, Audo, Isabelle, additional, Benchaboune, Mustapha, additional, Cree, Angela J, additional, Rennie, Christina A, additional, Goverdhan, Srinivas V, additional, Grunin, Michelle, additional, Hagbi-Levi, Shira, additional, Campochiaro, Peter, additional, Katsanis, Nicholas, additional, Holz, Frank G, additional, Blond, Frédéric, additional, Blanché, Hélène, additional, Deleuze, Jean-François, additional, Igo, Robert P, additional, Truitt, Barbara, additional, Peachey, Neal S, additional, Meuer, Stacy M, additional, Myers, Chelsea E, additional, Moore, Emily L, additional, Klein, Ronald, additional, Hauser, Michael A, additional, Postel, Eric A, additional, Courtenay, Monique D, additional, Schwartz, Stephen G, additional, Kovach, Jaclyn L, additional, Scott, William K, additional, Liew, Gerald, additional, Tan, Ava G, additional, Gopinath, Bamini, additional, Merriam, John C, additional, Smith, R Theodore, additional, Khan, Jane C, additional, Shahid, Humma, additional, Moore, Anthony T, additional, McGrath, J Allie, additional, Laux, Reneé, additional, Brantley, Milam A, additional, Agarwal, Anita, additional, Ersoy, Lebriz, additional, Caramoy, Albert, additional, Langmann, Thomas, additional, Saksens, Nicole T M, additional, de Jong, Eiko K, additional, Hoyng, Carel B, additional, Cain, Melinda S, additional, Richardson, Andrea J, additional, Martin, Tammy M, additional, Blangero, John, additional, Weeks, Daniel E, additional, Dhillon, Bal, additional, van Duijn, Cornelia M, additional, Doheny, Kimberly F, additional, Romm, Jane, additional, Klaver, Caroline C W, additional, Hayward, Caroline, additional, Gorin, Michael B, additional, Klein, Michael L, additional, Baird, Paul N, additional, den Hollander, Anneke I, additional, Fauser, Sascha, additional, Yates, John R W, additional, Allikmets, Rando, additional, Wang, Jie Jin, additional, Schaumberg, Debra A, additional, Klein, Barbara E K, additional, Hagstrom, Stephanie A, additional, Chowers, Itay, additional, Lotery, Andrew J, additional, Léveillard, Thierry, additional, Zhang, Kang, additional, Brilliant, Murray H, additional, Hewitt, Alex W, additional, Swaroop, Anand, additional, Chew, Emily Y, additional, Pericak-Vance, Margaret A, additional, DeAngelis, Margaret, additional, Stambolian, Dwight, additional, Haines, Jonathan L, additional, Iyengar, Sudha K, additional, Weber, Bernhard H F, additional, Abecasis, Gonçalo R, additional, and Heid, Iris M, additional

Published
2015
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36. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

Author

Gallego, Carlos J., primary, Burt, Amber, additional, Sundaresan, Agnes S., additional, Ye, Zi, additional, Shaw, Christopher, additional, Crosslin, David R., additional, Crane, Paul K., additional, Fullerton, S. Malia, additional, Hansen, Kris, additional, Carrell, David, additional, Kuivaniemi, Helena, additional, Derr, Kimberly, additional, de Andrade, Mariza, additional, McCarty, Catherine A., additional, Kitchner, Terrie E., additional, Ragon, Brittany K., additional, Stallings, Sarah C., additional, Papa, Gabriella, additional, Bochenek, Joseph, additional, Smith, Maureen E., additional, Aufox, Sharon A., additional, Pacheco, Jennifer A., additional, Patel, Vaibhav, additional, Friesema, Elisha M., additional, Erwin, Angelika Ludtke, additional, Gottesman, Omri, additional, Gerhard, Glenn S., additional, Ritchie, Marylyn, additional, Motulsky, Arno G., additional, Kullo, Iftikhar J., additional, Larson, Eric B., additional, Tromp, Gerard, additional, Brilliant, Murray H., additional, Bottinger, Erwin, additional, Denny, Joshua C., additional, Roden, Dan M., additional, Williams, Marc S., additional, and Jarvik, Gail P., additional

Published
2015
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37. Applying family analyses to electronic health records to facilitate genetic research.

Author

Huang, Xiayuan, Elston, Robert C, Rosa, Guilherme J, Mayer, John, Ye, Zhan, Kitchner, Terrie, Brilliant, Murray H, Page, David, and Hebbring, Scott J

Subjects
ELECTRONIC health records, GENETIC research, BIOINFORMATICS, GENE mapping, LOGISTIC regression analysis
Abstract

Motivation: Pedigree analysis is a longstanding and powerful approach to gain insight into the underlying genetic factors in human health, but identifying, recruiting and genotyping families can be difficult, time consuming and costly. Development of high throughput methods to identify families and foster downstream analyses are necessary. Results: This paper describes simple methods that allowed us to identify 173 368 family pedigrees with high probability using basic demographic data available in most electronic health records (EHRs). We further developed and validate a novel statistical method that uses EHR data to identify families more likely to have a major genetic component to their diseases risk. Lastly, we showed that incorporating EHR-linked family data into genetic association testing may provide added power for genetic mapping without additional recruitment or genotyping. The totality of these results suggests that EHR-linked families can enable classical genetic analyses in a high-throughput manner. [ABSTRACT FROM AUTHOR]

Published
2018
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38. A GWAS Study on Liver Function Test Using eMERGE Network Participants

Author

Namjou, Bahram, primary, Marsolo, Keith, additional, Lingren, Todd, additional, Ritchie, Marylyn D., additional, Verma, Shefali S., additional, Cobb, Beth L., additional, Perry, Cassandra, additional, Kitchner, Terrie E., additional, Brilliant, Murray H., additional, Peissig, Peggy L., additional, Borthwick, Kenneth M., additional, Williams, Marc S., additional, Grafton, Jane, additional, Jarvik, Gail P., additional, Holm, Ingrid A., additional, and Harley, John B., additional

Published
2015
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39. CMTR1is associated with increased asthma exacerbations in patients taking inhaled corticosteroids

Author

Dahlin, Amber, primary, Denny, Joshua, additional, Roden, Dan M., additional, Brilliant, Murray H., additional, Ingram, Christie, additional, Kitchner, Terrie E., additional, Linneman, James G., additional, Shaffer, Christian M., additional, Weeke, Peter, additional, Xu, Hua, additional, Kubo, Michiaki, additional, Tamari, Mayumi, additional, Clemmer, George L., additional, Ziniti, John, additional, McGeachie, Michael J., additional, Tantisira, Kelan G., additional, Weiss, Scott T., additional, and Wu, Ann Chen, additional

Published
2015
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40. Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy

Author

Van Driest, Sara L., primary, McGregor, Tracy L., additional, Velez Edwards, Digna R., additional, Saville, Ben R., additional, Kitchner, Terrie E., additional, Hebbring, Scott J., additional, Brilliant, Murray, additional, Jouni, Hayan, additional, Kullo, Iftikhar J., additional, Creech, C. Buddy, additional, Kannankeril, Prince J., additional, Vear, Susan I., additional, Brothers, Kyle B., additional, Bowton, Erica A., additional, Shaffer, Christian M., additional, Patel, Neelam, additional, Delaney, Jessica T., additional, Bradford, Yuki, additional, Wilson, Sarah, additional, Olson, Lana M., additional, Crawford, Dana C., additional, Potts, Amy L., additional, Ho, Richard H., additional, Roden, Dan M., additional, and Denny, Josh C., additional

Published
2015
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41. Biology‐Driven Gene‐Gene Interaction Analysis of Age‐Related Cataract in the eMERGE Network

Author

Hall, Molly A., primary, Verma, Shefali S., additional, Wallace, John, additional, Lucas, Anastasia, additional, Berg, Richard L., additional, Connolly, John, additional, Crawford, Dana C., additional, Crosslin, David R., additional, Andrade, Mariza, additional, Doheny, Kimberly F., additional, Haines, Jonathan L., additional, Harley, John B., additional, Jarvik, Gail P., additional, Kitchner, Terrie, additional, Kuivaniemi, Helena, additional, Larson, Eric B., additional, Carrell, David S., additional, Tromp, Gerard, additional, Vrabec, Tamara R., additional, Pendergrass, Sarah A., additional, McCarty, Catherine A., additional, and Ritchie, Marylyn D., additional

Published
2015
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42. ERRATUM: NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT

Author

PENDERGRASS, SARAH A., primary, VERMA, SHEFALI S., additional, HALL, MOLLY A., additional, HOLZINGER, EMILY R., additional, MOORE, CARRIE B., additional, WALLACE, JOHN R., additional, DUDEK, SCOTT M., additional, HUGGINS, WAYNE, additional, KITCHNER, TERRIE, additional, WAUDBY, CAROL, additional, BERG, RICHARD, additional, MCCARTY, CATHERINE A., additional, and RITCHIE, MARYLYN D., additional

Published
2014
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44. Cone Structure in Subjects with Known Genetic Relative Risk for AMD

Author

Land, Megan E., primary, Cooper, Robert F., additional, Young, Jonathon, additional, Berg, Elizabeth, additional, Kitchner, Terrie, additional, Xiang, Qun, additional, Szabo, Aniko, additional, Ivacic, Lynn C., additional, Stepien, Kimberly E., additional, Page, C. David, additional, Carroll, Joseph, additional, Connor, Thomas, additional, and Brilliant, Murray, additional

Published
2014
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45. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Author

Jarvik, Gail P., primary, Amendola, Laura M., additional, Berg, Jonathan S., additional, Brothers, Kyle, additional, Clayton, Ellen W., additional, Chung, Wendy, additional, Evans, Barbara J., additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Gallego, Carlos J., additional, Garrison, Nanibaa’ A., additional, Gray, Stacy W., additional, Holm, Ingrid A., additional, Kullo, Iftikhar J., additional, Lehmann, Lisa Soleymani, additional, McCarty, Cathy, additional, Prows, Cynthia A., additional, Rehm, Heidi L., additional, Sharp, Richard R., additional, Salama, Joseph, additional, Sanderson, Saskia, additional, Van Driest, Sara L., additional, Williams, Marc S., additional, Wolf, Susan M., additional, Wolf, Wendy A., additional, Burke, Wylie, additional, Harley, John, additional, Myers, Melanie, additional, Namjou, Bahram, additional, Vinks, Sander, additional, Connolly, John, additional, Keating, Brendan, additional, Gerhard, Glenn, additional, Sundaresan, Agnes, additional, Tromp, Gerard, additional, Crosslin, David, additional, Leppig, Kathy, additional, Wicklund, Cathy, additional, Chute, Christopher, additional, Lynch, John, additional, De Andrade, Mariza, additional, Heit, John, additional, McCormick, Jen, additional, Brilliant, Murray, additional, Kitchner, Terrie, additional, Ritchie, Marylyn, additional, Böttinger, Erwin, additional, Peter, Inga, additional, Persell, Stephen, additional, Rasmussen-Torvik, Laura, additional, McGregor, Tracy, additional, Roden, Dan, additional, Antommaria, Armand, additional, Chiavacci, Rosetta, additional, Faucett, Andy, additional, Ledbetter, David, additional, Williams, Janet, additional, Hartzler, Andrea, additional, Vitek, Carolyn R. Rohrer, additional, Frost, Norm, additional, Ferryman, Kadija, additional, Horowitz, Carol, additional, Rhodes, Rosamond, additional, Zinberg, Randi, additional, Aufox, Sharon, additional, Pan, Vivian, additional, Long, Rochelle, additional, Ramos, Erin, additional, Odgis, Jackie, additional, Wise, Anastasia, additional, Hull, Sara, additional, Gitlin, Jonathan, additional, Green, Robert, additional, Metterville, Danielle, additional, McGuire, Amy, additional, Kong, Sek Won, additional, Trinidad, Sue, additional, Veenstra, David, additional, Roche, Myra, additional, Skinner, Debra, additional, Raspberry, Kelly, additional, O’Daniel, Julianne, additional, Parsons, Will, additional, Eng, Christine, additional, Hilsenbeck, Susan, additional, Karavite, Dean, additional, Conlin, Laura, additional, Spinner, Nancy, additional, Krantz, Ian, additional, Falk, Marni, additional, Santani, Avni, additional, Dechene, Elizabeth, additional, Dulik, Matthew, additional, Bernhardt, Barbara, additional, Schuetze, Scott, additional, Everett, Jessica, additional, Gornick, Michele Caroline, additional, Wilfond, Ben, additional, Tabor, Holly, additional, Lemke, Amy A., additional, Richards, Sue, additional, Goddard, Katrina, additional, Cooper, Greg, additional, East, Kelly, additional, Barsh, Greg, additional, Koenig, Barbara, additional, Van Allen, Eliezer, additional, Garber, Judy, additional, Garrett, Jeremy, additional, Zawati, Ma’n, additional, Lewis, Michelle, additional, Savage, Sarah, additional, Smith, Maureen, additional, Roychowdhury, Sameek, additional, Bailey, Alice, additional, Berkman, Benjamin, additional, Anan, Charlisse Caga, additional, Hindorff, Lucia, additional, Hutter, Carolyn, additional, King, Rosalind, additional, Li, Rongling, additional, Lockhart, Nicole, additional, McEwen, Jean, additional, Scholes, Derek, additional, Schully, Sheri, additional, and Sun, Kathie, additional

Published
2014
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47. CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids.

Author

Dahlin, Amber, Denny, Joshua, Roden, Dan M., Brilliant, Murray H., Ingram, Christie, Kitchner, Terrie E., Linneman, James G., Shaffer, Christian M., Weeke, Peter, Xu, Hua, Kubo, Michiaki, Tamari, Mayumi, Clemmer, George L., Ziniti, John, McGeachie, Michael J., Tantisira, Kelan G., Weiss, Scott T., and Wu, Ann Chen

Subjects
CORTICOSTEROIDS, DISEASE exacerbation, ASTHMA treatment, ASTHMATICS, BIOBANKS, INDIVIDUALIZED medicine, LOGISTIC regression analysis
Abstract

Inhaled corticosteroids (ICS) are the most effective controller medications for asthma, and variability in ICS response is associated with genetic variation. Despite ICS treatment, some patients with poor asthma control experience severe asthma exacerbations, defined as a hospitalization or emergency room visit. We hypothesized that some individuals may be at increased risk of asthma exacerbations, despite ICS use, due to genetic factors. A GWAS of 237,726 common, independent markers was conducted in 806 Caucasian asthmatic patients from two population-based biobanks: BioVU, at Vanderbilt University Medical Center (VUMC) in Tennessee (369 patients), and Personalized Medicine Research Project (PMRP) at the Marshfield Clinic in Wisconsin (437 patients). Using a case-control study design, the association of each SNP locus with the outcome of asthma exacerbations (defined as asthma-related emergency department visits or hospitalizations concurrent with oral corticosteroid use), was evaluated for each population by logistic regression analysis, adjusting for age, gender and the first four principal components. A meta-analysis of the results was conducted. Validation of expression of selected candidate genes was determined by evaluating an independent microarray expression data set. Our study identified six novel SNPs associated with differential risk of asthma exacerbations (P<10-05). The top GWAS result, rs2395672 in CMTR1, was associated with an increased risk of exacerbations in both populations (OR=1.07, 95% CI 1.03-1.11; joint P = 2.3 x 10-06). Two SNPs (rs2395672 and rs279728) were associated with increased risk of exacerbations, while the remaining four SNPs (rs4271056, rs6467778, rs2691529, and rs9303988) were associated with decreased risk. Three SNPs (rs2395672, rs6467778, and rs2691529) were present in three genes: CMTR1, TRIM24 andMAGI2. The CMTR1mRNA transcript was significantly differentially expressed in nasal lavage samples from asthmatics during acute exacerbations, suggesting potential involvement of this gene in the development of this phenotype. We show that genetic variability may contribute to asthma exacerbations in patients taking ICS. Furthermore, our studies implicate CMTR1 as a novel candidate gene with potential roles in the pathogenesis of asthma exacerbations. [ABSTRACT FROM AUTHOR]

Published
2015
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48. NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT

Author

PENDERGRASS, SARAH A., primary, VERMA, SHEFALI S., additional, HOLZINGER, EMILY R., additional, MOORE, CARRIE B., additional, WALLACE, JOHN, additional, DUDEK, SCOTT M., additional, HUGGINS, WAYNE, additional, KITCHNER, TERRIE, additional, WAUDBY, CAROL, additional, BERG, RICHARD, additional, MCCARTY, CATHERINE A., additional, and RITCHIE, MARYLYN D., additional

Published
2012
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49. NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT.

Author

PENDERGRASS, SARAH A., VERMA, SHEFALI S., HALL, MOLLY A., HOLZINGER, EMILY R., MOORE, CARRIE B., WALLACE, JOHN R., DUDEK, SCOTT M., HUGGINS, WAYNE, KITCHNER, TERRIE, WAUDBY, CAROL, BERG, RICHARD, MCCARTY, CATHERINE A., and RITCHIE, MARYLYN D.

Subjects
CATARACT, NUCLEOTIDE sequencing, ELECTRONIC health records, SINGLE nucleotide polymorphisms, BIOFILTERS, GENETICS
Published
2014

50. PCSK9genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Author

Schmidt, Amand F, Swerdlow, Daniel I, Holmes, Michael V, Patel, Riyaz S, Fairhurst-Hunter, Zammy, Lyall, Donald M, Hartwig, Fernando Pires, Horta, Bernardo Lessa, Hyppönen, Elina, Power, Christine, Moldovan, Max, van Iperen, Erik, Hovingh, G Kees, Demuth, Ilja, Norman, Kristina, Steinhagen-Thiessen, Elisabeth, Demuth, Juri, Bertram, Lars, Liu, Tian, Coassin, Stefan, Willeit, Johann, Kiechl, Stefan, Willeit, Karin, Mason, Dan, Wright, John, Morris, Richard, Wanamethee, Goya, Whincup, Peter, Ben-Shlomo, Yoav, McLachlan, Stela, Price, Jackie F, Kivimaki, Mika, Welch, Catherine, Sanchez-Galvez, Adelaida, Marques-Vidal, Pedro, Nicolaides, Andrew, Panayiotou, Andrie G, Onland-Moret, N Charlotte, van der Schouw, Yvonne T, Matullo, Giuseppe, Fiorito, Giovanni, Guarrera, Simonetta, Sacerdote, Carlotta, Wareham, Nicholas J, Langenberg, Claudia, Scott, Robert, Luan, Jian'an, Bobak, Martin, Malyutina, Sofia, Pająk, Andrzej, Kubinova, Ruzena, Tamosiunas, Abdonas, Pikhart, Hynek, Husemoen, Lise Lotte Nystrup, Grarup, Niels, Pedersen, Oluf, Hansen, Torben, Linneberg, Allan, Simonsen, Kenneth Starup, Cooper, Jackie, Humphries, Steve E, Brilliant, Murray, Kitchner, Terrie, Hakonarson, Hakon, Carrell, David S, McCarty, Catherine A, Kirchner, H Lester, Larson, Eric B, Crosslin, David R, de Andrade, Mariza, Roden, Dan M, Denny, Joshua C, Carty, Cara, Hancock, Stephen, Attia, John, Holliday, Elizabeth, O'Donnell, Martin, Yusuf, Salim, Chong, Michael, Pare, Guillaume, van der Harst, Pim, Said, M Abdullah, Eppinga, Ruben N, Verweij, Niek, Snieder, Harold, Christen, Tim, Mook-Kanamori, Dennis O, Gustafsson, Stefan, Lind, Lars, Ingelsson, Erik, Pazoki, Raha, Franco, Oscar, Hofman, Albert, Uitterlinden, Andre, Dehghan, Abbas, Teumer, Alexander, Baumeister, Sebastian, Dörr, Marcus, Lerch, Markus M, Völker, Uwe, Völzke, Henry, Ward, Joey, Pell, Jill P, Smith, Daniel J, Meade, Tom, Maitland-van der Zee, Anke H, Baranova, Ekaterina V, Young, Robin, Ford, Ian, Campbell, Archie, Padmanabhan, Sandosh, Bots, Michiel L, Grobbee, Diederick E, Froguel, Philippe, Thuillier, Dorothée, Balkau, Beverley, Bonnefond, Amélie, Cariou, Bertrand, Smart, Melissa, Bao, Yanchun, Kumari, Meena, Mahajan, Anubha, Ridker, Paul M, Chasman, Daniel I, Reiner, Alex P, Lange, Leslie A, Ritchie, Marylyn D, Asselbergs, Folkert W, Casas, Juan-Pablo, Keating, Brendan J, Preiss, David, Hingorani, Aroon D, and Sattar, Naveed

Abstract

Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk.

Published
2017
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