作者
Yao Hu, Adrienne M Stilp, Caitlin P McHugh, Shuquan Rao, Deepti Jain, Xiuwen Zheng, John Lane, Sébastian Méric de Bellefon, Laura M Raffield, Ming-Huei Chen, Lisa R Yanek, Marsha Wheeler, Yao Yao, Chunyan Ren, Jai Broome, Jee-Young Moon, Paul S de Vries, Brian D Hobbs, Quan Sun, Praveen Surendran, Jennifer A Brody, Thomas W Blackwell, Hélène Choquet, Kathleen Ryan, Ravindranath Duggirala, Nancy Heard-Costa, Zhe Wang, Nathalie Chami, Michael H Preuss, Nancy Min, Lynette Ekunwe, Leslie A Lange, Mary Cushman, Nauder Faraday, Joanne E Curran, Laura Almasy, Kousik Kundu, Albert V Smith, Stacey Gabriel, Jerome I Rotter, Myriam Fornage, Donald M Lloyd-Jones, Ramachandran S Vasan, Nicholas L Smith, Kari E North, Eric Boerwinkle, Lewis C Becker, Joshua P Lewis, Goncalo R Abecasis, Lifang Hou, Jeffrey R O’Connell, Alanna C Morrison, Terri H Beaty, Robert Kaplan, Adolfo Correa, John Blangero, Eric Jorgenson, Bruce M Psaty, Charles Kooperberg, Russell T Walton, Benjamin P Kleinstiver, Hua Tang, Ruth JF Loos, Nicole Soranzo, Adam S Butterworth, Debbie Nickerson, Stephen S Rich, Braxton D Mitchell, Andrew D Johnson, Paul L Auer, Yun Li, Rasika A Mathias, Guillaume Lettre, Nathan Pankratz, Cathy C Laurie, Cecelia A Laurie, Daniel E Bauer, Matthew P Conomos, Alexander P Reiner
发表日期
2021/5/6
期刊
The American Journal of Human Genetics
卷号
108
期号
5
页码范围
874-893
出版商
Elsevier
简介
Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC) quantitative traits. We discovered 14 single variant-RBC trait associations at 12 genomic loci, which have not been reported previously. Several of the RBC trait-variant associations (RPN1, ELL2, MIDN, HBB, HBA1, PIEZO1, and G6PD) were replicated in independent GWAS datasets imputed to the TOPMed reference panel. Most of these discovered variants are rare/low frequency, and several are observed disproportionately among non-European Ancestry (African, Hispanic/Latino, or East Asian …
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