Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.

Autor: Madeline H Kowalski, Huijun Qian, Ziyi Hou, Jonathan D Rosen, Amanda L Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K Arnett, Christy Avery, Kathleen C Barnes, Lewis C Becker, Stephanie A Bien, Joshua C Bis, John Blangero, Eric Boerwinkle, Donald W Bowden, Steve Buyske, Jianwen Cai, Michael H Cho, Seung Hoan Choi, Hélène Choquet, L Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S de Vries, Patrick T Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R Heckbert, Bertha Hidalgo, Chani J Hodonsky, Marguerite R Irvin, Andrew D Johnson, Eric Jorgenson, Robert Kaplan, Sharon L R Kardia, Tanika N Kelly, Charles Kooperberg, Jessica A Lasky-Su, Ruth J F Loos, Steven A Lubitz, Rasika A Mathias, Caitlin P McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C Morrison, Nicholette D Palmer, Nathan Pankratz, George J Papanicolaou, Juan M Peralta, Patricia A Peyser, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jennifer A Smith, Nicholas L Smith, Kent D Taylor, Timothy A Thornton, Hemant K Tiwari, Russell P Tracy, Tao Wang, Scott T Weiss, Lu-Chen Weng, Kerri L Wiggins, James G Wilson, Lisa R Yanek, Sebastian Zöllner, Kari E North, Paul L Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M Raffield, Alexander P Reiner, Yun Li

Publikováno v: PLoS Genetics, Vol 15, Iss 12, p e1008500 (2019)

Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, and genetic studies of populations of Hispanic/Latino and African ancestry are limited. In addition, these populations have more com

Externí odkaz: https://doaj.org/article/e2012563f33841c88441169fde0c6cd0

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.

Autor: James S Floyd, Katarzyna M Bloch, Jennifer A Brody, Cyrielle Maroteau, Moneeza K Siddiqui, Richard Gregory, Daniel F Carr, Mariam Molokhia, Xiaoming Liu, Joshua C Bis, Ammar Ahmed, Xuan Liu, Pär Hallberg, Qun-Ying Yue, Patrik K E Magnusson, Diane Brisson, Kerri L Wiggins, Alanna C Morrison, Etienne Khoury, Paul McKeigue, Bruno H Stricker, Maryse Lapeyre-Mestre, Susan R Heckbert, Arlene M Gallagher, Hector Chinoy, Richard A Gibbs, Emmanuelle Bondon-Guitton, Russell Tracy, Eric Boerwinkle, Daniel Gaudet, Anita Conforti, Tjeerd van Staa, Colleen M Sitlani, Kenneth M Rice, Anke-Hilse Maitland-van der Zee, Mia Wadelius, Andrew P Morris, Munir Pirmohamed, Colin A N Palmer, Bruce M Psaty, Ana Alfirevic, PREDICTION-ADR Consortium and EUDRAGENE

Publikováno v: PLoS ONE, Vol 14, Iss 6, p e0218115 (2019)

AimsStatin-related myopathy (SRM), which includes rhabdomyolysis, is an uncommon but important adverse drug reaction because the number of people prescribed statins world-wide is large. Previous association studies of common genetic variants have had

Externí odkaz: https://doaj.org/article/2ad0f040dcd841839a2fd08139da5390

Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.

Autor: Jingjing Liang, Thu H Le, Digna R Velez Edwards, Bamidele O Tayo, Kyle J Gaulton, Jennifer A Smith, Yingchang Lu, Richard A Jensen, Guanjie Chen, Lisa R Yanek, Karen Schwander, Salman M Tajuddin, Tamar Sofer, Wonji Kim, James Kayima, Colin A McKenzie, Ervin Fox, Michael A Nalls, J Hunter Young, Yan V Sun, Jacqueline M Lane, Sylvia Cechova, Jie Zhou, Hua Tang, Myriam Fornage, Solomon K Musani, Heming Wang, Juyoung Lee, Adebowale Adeyemo, Albert W Dreisbach, Terrence Forrester, Pei-Lun Chu, Anne Cappola, Michele K Evans, Alanna C Morrison, Lisa W Martin, Kerri L Wiggins, Qin Hui, Wei Zhao, Rebecca D Jackson, Erin B Ware, Jessica D Faul, Alex P Reiner, Michael Bray, Joshua C Denny, Thomas H Mosley, Walter Palmas, Xiuqing Guo, George J Papanicolaou, Alan D Penman, Joseph F Polak, Kenneth Rice, Ken D Taylor, Eric Boerwinkle, Erwin P Bottinger, Kiang Liu, Neil Risch, Steven C Hunt, Charles Kooperberg, Alan B Zonderman, Cathy C Laurie, Diane M Becker, Jianwen Cai, Ruth J F Loos, Bruce M Psaty, David R Weir, Sharon L R Kardia, Donna K Arnett, Sungho Won, Todd L Edwards, Susan Redline, Richard S Cooper, D C Rao, Jerome I Rotter, Charles Rotimi, Daniel Levy, Aravinda Chakravarti, Xiaofeng Zhu, Nora Franceschini

Publikováno v: PLoS Genetics, Vol 13, Iss 5, p e1006728 (2017)

Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. To identify

Externí odkaz: https://doaj.org/article/3532e4699b9641beb8d3163da545010d

Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.

Autor: Joshua C Bis, Colleen Sitlani, Ryan Irvin, Christy L Avery, Albert Vernon Smith, Fangui Sun, Daniel S Evans, Solomon K Musani, Xiaohui Li, Stella Trompet, Bouwe P Krijthe, Tamara B Harris, P Miguel Quibrera, Jennifer A Brody, Serkalem Demissie, Barry R Davis, Kerri L Wiggins, Gregory J Tranah, Leslie A Lange, Nona Sotoodehnia, David J Stott, Oscar H Franco, Lenore J Launer, Til Stürmer, Kent D Taylor, L Adrienne Cupples, John H Eckfeldt, Nicholas L Smith, Yongmei Liu, James G Wilson, Susan R Heckbert, Brendan M Buckley, M Arfan Ikram, Eric Boerwinkle, Yii-Der Ida Chen, Anton J M de Craen, Andre G Uitterlinden, Jerome I Rotter, Ian Ford, Albert Hofman, Naveed Sattar, P Eline Slagboom, Rudi G J Westendorp, Vilmundur Gudnason, Ramachandran S Vasan, Thomas Lumley, Steven R Cummings, Herman A Taylor, Wendy Post, J Wouter Jukema, Bruno H Stricker, Eric A Whitsel, Bruce M Psaty, Donna Arnett

Publikováno v: PLoS ONE, Vol 10, Iss 10, p e0140496 (2015)

Hypertension is a major risk factor for a spectrum of cardiovascular diseases (CVD), including myocardial infarction, sudden death, and stroke. In the US, over 65 million people have high blood pressure and a large proportion of these individuals are

Externí odkaz: https://doaj.org/article/4783d750331d4a3ebd7298fdecd6c1fc

Genome-wide association study of retinopathy in individuals without diabetes.

Autor: Richard A Jensen, Xueling Sim, Xiaohui Li, Mary Frances Cotch, M Kamran Ikram, Elizabeth G Holliday, Gudny Eiriksdottir, Tamara B Harris, Fridbert Jonasson, Barbara E K Klein, Lenore J Launer, Albert Vernon Smith, Eric Boerwinkle, Ning Cheung, Alex W Hewitt, Gerald Liew, Paul Mitchell, Jie Jin Wang, John Attia, Rodney Scott, Nicole L Glazer, Thomas Lumley, Barbara McKnight, Bruce M Psaty, Kent Taylor, Albert Hofman, Paulus T V M de Jong, Fernando Rivadeneira, Andre G Uitterlinden, Wan-Ting Tay, Yik Ying Teo, Mark Seielstad, Jianjun Liu, Ching-Yu Cheng, Seang-Mei Saw, Tin Aung, Santhi K Ganesh, Christopher J O'Donnell, Mike A Nalls, Kerri L Wiggins, Jane Z Kuo, Blue Mountains Eye Study GWAS Team, CKDGen Consortium, Cornelia M van Duijn, Vilmundur Gudnason, Ronald Klein, David S Siscovick, Jerome I Rotter, E Shong Tai, Johannes Vingerling, Tien Y Wong

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e54232 (2013)

BACKGROUND:Mild retinopathy (microaneurysms or dot-blot hemorrhages) is observed in persons without diabetes or hypertension and may reflect microvascular disease in other organs. We conducted a genome-wide association study (GWAS) of mild retinopath

Externí odkaz: https://doaj.org/article/7b7cc365e17a498580b10733313a78f9