Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Schick, UM; Jain, D; Hodonsky, CJ; Morrison, JV; Davis, JP; Brown, L; Sofer, T; Conomos, MP; Schurmann, C; McHugh, CP; Nelson, SC; Vadlamudi, S; Stilp, A; Plantinga, A; Baier, L; Bien, SA; Gogarten, SM; Laurie, CA; Taylor, KD; Liu, Y; Auer, PL; Franceschini, N; Szpiro, A; Rice, K; Kerr, KF; Rotter, JI; Hanson, RL; Papanicolaou, G; Rich, SS; Loos, RJF; Browning, BL; Browning, SR; Weir, BS; Laurie, CC; Mohlke, KL; North, KE; Thornton, TA; Reiner, AP

Published Date

  • February 4, 2016

Published In

Volume / Issue

  • 98 / 2

Start / End Page

  • 229 - 242

PubMed ID

  • 26805783

Pubmed Central ID

  • PMC4746331

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2015.12.003


  • eng

Conference Location

  • United States