DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Platelet count. The EFO term platelet count was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: platelet count

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

UM Schick, D Jain, CJ Hodonsky, JV Morrison, JP Davis, L Brown, T Sofer, MP Conomos, C Schurmann, CP McHugh, SC Nelson, S Vadlamudi, A Stilp, A Plantinga, L Baier, SA Bien, SM Gogarten, CA Laurie, KD Taylor, Y Liu, PL Auer, N Franceschini, A Szpiro, K Rice, KF Kerr, JI Rotter, RL Hanson, G Papanicolaou, SS Rich, RJ Loos, BL Browning, SR Browning, BS Weir, CC Laurie, KL Mohlke, KE North, TA Thornton, AP Reiner

TITLE:

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

JOURNAL:

American journal of human genetics Feb 2016, Vol 98, pp. 229-42

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. PUBMED: 26805783
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