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

TitleGenome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
Publication TypePublication
Year2016
AuthorsSchick 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
JournalAm J Hum Genet
Volume98
Issue2
Pagination229-42
Date Published2016 Feb 04
ISSN1537-6605
KeywordsActinin, Adolescent, Adult, Aged, Alleles, Gene Frequency, Genetic Association Studies, Genetic Loci, Genotype, Genotyping Techniques, Hispanic Americans, Humans, MEF2 Transcription Factors, Membrane Proteins, Middle Aged, Phenotype, Platelet Count, Polymorphism, Single Nucleotide, Receptors, GABA-B, Young Adult
Abstract

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.

DOI10.1016/j.ajhg.2015.12.003
Alternate JournalAm J Hum Genet
PubMed ID26805783
PubMed Central IDPMC4746331
Grant ListHHSN268201300005C / HL / NHLBI NIH HHS / United States
UL1TR000124 / TR / NCATS NIH HHS / United States
HHSB268201200054C / / PHS HHS / United States
P01 GM099568 / GM / NIGMS NIH HHS / United States
R01 DK072193 / DK / NIDDK NIH HHS / United States
HHSN268201300005C / / PHS HHS / United States
R01 GM110068 / GM / NIGMS NIH HHS / United States
N01HC65236 / HL / NHLBI NIH HHS / United States
N01HC65235 / HL / NHLBI NIH HHS / United States
N01-HC65237 / HC / NHLBI NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
N01HC65234 / HL / NHLBI NIH HHS / United States
P30 DK063491 / DK / NIDDK NIH HHS / United States
/ / Intramural NIH HHS / United States
N01HC65233 / HL / NHLBI NIH HHS / United States
R01 DK101855 / DK / NIDDK NIH HHS / United States
N01HC65237 / HL / NHLBI NIH HHS / United States
N01-HC65233 / HC / NHLBI NIH HHS / United States
L60 MD010115 / MD / NIMHD NIH HHS / United States
N01-HC65234 / HC / NHLBI NIH HHS / United States
N01-HC65236 / HC / NHLBI NIH HHS / United States
1R01DK101855-01 / DK / NIDDK NIH HHS / United States
K01 CA148958 / CA / NCI NIH HHS / United States
DK063491 / DK / NIDDK NIH HHS / United States
R01-GM110068 / GM / NIGMS NIH HHS / United States
N01-HC65235 / HC / NHLBI NIH HHS / United States
MS#: 
0297
Manuscript Lead/Corresponding Author Affiliation: 
HCHS/SOL Genetic Analysis Center - University of Washington, Seattle
ECI: 
Manuscript Status: 
Published