Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
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.
Duke Scholars
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- Young Adult
- Receptors, GABA-B
- Polymorphism, Single Nucleotide
- Platelet Count
- Phenotype
- Middle Aged
- Membrane Proteins
- MEF2 Transcription Factors
- Humans
- Hispanic or Latino
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Young Adult
- Receptors, GABA-B
- Polymorphism, Single Nucleotide
- Platelet Count
- Phenotype
- Middle Aged
- Membrane Proteins
- MEF2 Transcription Factors
- Humans
- Hispanic or Latino