Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
Am J Hum Genet
; 98(2): 229-42, 2016 Feb 04.
Article
en En
| MEDLINE
| ID: mdl-26805783
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Recuento de Plaquetas
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Hispánicos o Latinos
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Estudios de Asociación Genética
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Sitios Genéticos
Tipo de estudio:
Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Aged
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Humans
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Middle aged
Idioma:
En
Año:
2016
Tipo del documento:
Article