☆ 4.7 Article

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

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

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AMERICAN JOURNAL OF HUMAN GENETICS
卷 98, 期 2, 页码 229-242

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CELL PRESS
DOI: 10.1016/j.ajhg.2015.12.003

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Genetics & Heredity

资金

  1. National Heart, Lung, and Blood Institute (NHLBI) [N01-HC65233]
  2. University of Miami [N01-HC65234]
  3. Albert Einstein College of Medicine [N01-HC65235]
  4. Northwestern University [N01-HC65236]
  5. San Diego State University [N01-HC65237]
  6. National Institute on Minority Health and Health Disparities
  7. National Institute on Deafness and Other Communication Disorders
  8. National Institute of Dental and Craniofacial Research (NIDCR)
  9. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [DK063491]
  10. National Institute of Neurological Disorders and Stroke
  11. NIH Office of Dietary
  12. NHLBI
  13. NIDCR [HHSN268201300005C AM03, MOD03]
  14. National Center for Advancing Translational Sciences [UL1TR000124]
  15. Intramural Research Program of the NIDDK [HHSB268201200054C]
  16. Illumina
  17. Andrea and Charles Bronfman Philanthropies [R01-GM110068]
  18. [1R01DK101855-01]
  19. [13GRNT16490017]
  20. [R01 DK072193]

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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 x 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.

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