Mean Platelet Volume/count Quantitative Trait Locus 3

For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 (612573).

Mapping

Mean platelet volume is a quantitative trait that has been associated with increased risk of major complications after myocardial and cerebral infarction. In a genomewide association study examining MPV in a large German population, Meisinger et al. (2009) found significant linkage to rs2138852, on chromosome 17q11.2 upstream of the TAOK1 gene (610266). The association was replicated in another another cohort from the UK and in 2 population-based samples from Germany. In the combined sample of 10,048 individuals, the association of MPV with rs2138852 reached a p value of 7.19 x 10(-28).

Gieger et al. (2011) performed metaanalyses of GWAS for MPV and PLT. Their analyses included 18,600 (13 studies, MPV) and 48,666 (23 studies, PLT) individuals of European descent, respectively, and up to approximately 2.5 million genotyped or imputed SNPs. Gieger et al. (2011) identified rs8076739 in the TAOK1 gene at chromosome 17q11.2 as significantly associated with MPV in 21,652 individuals, with a p value of 4.59 x 10(-38).