Open AccessGenome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans
Author(s) -
Ursula M. Schick,
Deepti Jain,
Chani J. Hodonsky,
Jean Morrison,
James P. Davis,
Lisa Brown,
Tamar Sofer,
Matthew P. Conomos,
Claudia Schurmann,
Caitlin McHugh,
Sarah C. Nelson,
Swarooparani Vadlamudi,
Adrienne M. Stilp,
Anna Plantinga,
Leslie J. Baier,
Stephanie A. Bien,
Stephanie M. Gogarten,
Cecelia Laurie,
Kent D. Taylor,
ChingTi Liu,
Paul L. Auer,
Nora Franceschini,
Adam A. Szpiro,
Kenneth Rice,
Kathleen F. Kerr,
Jerome I. Rotter,
Robert L. Hanson,
George Papanicolaou,
Stephen S. Rich,
Ruth J. F. Loos,
Brian L. Browning,
Sharon R. Browning,
Bruce S. Weir,
Cathy C. Laurie,
Karen L. Mohlke,
Kari E. North,
Timothy A. Thornton,
Alex P. Reiner
Publication year - 2016
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2015.12.003
Subject(s) - genome wide association study , genetics , genetic association , association (psychology) , biology , genome , single nucleotide polymorphism , gene , genotype , psychology , psychotherapist
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom