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

Am J Hum Genet. 2016 Feb 4;98(2):229-42. doi: 10.1016/j.ajhg.2015.12.003. Epub 2016 Jan 21.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics
  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Gene Frequency
  • Genetic Association Studies / methods*
  • Genetic Loci*
  • Genotype
  • Genotyping Techniques
  • Hispanic or Latino / genetics*
  • Humans
  • MEF2 Transcription Factors / genetics
  • Membrane Proteins / genetics
  • Middle Aged
  • Phenotype
  • Platelet Count*
  • Polymorphism, Single Nucleotide
  • Receptors, GABA-B / genetics
  • Young Adult


  • ACTN1 protein, human
  • GABA type B receptor, subunit 1
  • MEF2 Transcription Factors
  • MEF2C protein, human
  • Membrane Proteins
  • Receptors, GABA-B
  • SRPX protein, human
  • Actinin