| Literature DB >> 26805783 |
Ursula M Schick1, Deepti Jain2, Chani J Hodonsky3, Jean V Morrison2, James P Davis4, Lisa Brown2, Tamar Sofer2, Matthew P Conomos2, Claudia Schurmann5, Caitlin P McHugh2, Sarah C Nelson2, Swarooparani Vadlamudi4, Adrienne Stilp2, Anna Plantinga2, Leslie Baier6, Stephanie A Bien7, Stephanie M Gogarten2, Cecelia A Laurie2, Kent D Taylor8, Yongmei Liu9, Paul L Auer10, Nora Franceschini3, Adam Szpiro2, Ken Rice2, Kathleen F Kerr2, Jerome I Rotter11, Robert L Hanson6, George Papanicolaou12, Stephen S Rich13, Ruth J F Loos14, Brian L Browning2, Sharon R Browning2, Bruce S Weir2, Cathy C Laurie2, Karen L Mohlke4, Kari E North3, Timothy A Thornton2, Alex P Reiner15.
Abstract
Platelets play an essential role in hemostasis and thrombosis. We performed a genome-wide association study of platelet count in 12,491 participants of the Hispanic Community Health Study/Study of Latinos by using a mixed-model method that accounts for admixture and family relationships. We discovered and replicated associations with five genes (ACTN1, ETV7, GABBR1-MOG, MEF2C, and ZBTB9-BAK1). Our strongest association was with Amerindian-specific variant rs117672662 (p value = 1.16 × 10(-28)) in ACTN1, a gene implicated in congenital macrothrombocytopenia. rs117672662 exhibited allelic differences in transcriptional activity and protein binding in hematopoietic cells. Our results underscore the value of diverse populations to extend insights into the allelic architecture of complex traits.Entities:
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Year: 2016 PMID： 26805783 PMCID： PMC4746331 DOI： 10.1016/j.ajhg.2015.12.003
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025