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MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 1; MPVCQTL1

MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 1; MPVCQTL1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,300,000-125,400,000▼ MappingMean platelet volume is a quantitative trait that has been as...

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,300,000-125,400,000

▼ 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 rs7961894, which is located in intron 3 of the WDR66 gene (618146) on chromosome 12q24.31. 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 rs7961894 reached a p value of 7.24 x 10(-48). Sequence analysis of the WDR66 gene in 382 samples from the extremes revealed 20 new variants and a haplotype consisting of additional SNPs that was associated with MPV. Expression analysis suggested a correlation between WDR66 transcripts and MPV.

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 rs7961894 in the WDR66 gene as significantly associated with MPV in a population of 29,755 individuals, generating a p value of 1.42 x 10(-103), and also significantly associated with PLT in 51,897 individuals, with a p value of 1.22 x 10(-10).

Tags: 12q24.31