SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.

doi:10.1371/journal.pone.0178095

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Article

SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume.

PloS one - 1 Jan 2017

Zou Siying, Teixeira Alexandra M, Kostadima Myrto, Astle William J, Radhakrishnan Aparna, Simon Lukas Mikolaj, Truman Lucy, Fang Jennifer S, Hwa John, Zhang Ping-Xia, van der Harst Pim, Bray Paul F, Ouwehand Willem H, Frontini Mattia, Krause Diane S

Abstract excerpt

Genome-wide association studies have identified a genetic variant at 3p14.3 (SNP rs1354034) that strongly associates with platelet number and mean platelet volume in humans. While originally proposed to be intronic, analysis of mRNA expression in primary human hematopoietic subpopulations reveals that this SNP is located directly upstream of the predominantly expressed ARHGEF3 isoform in megakaryocytes (MK). We...

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PMID: 28542600
DOI: 10.1371/journal.pone.0178095
PMCID: PMC5441597

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ARHGEF3

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