Alternative titles; symbols
Cytogenetic location: 3p21-p13 Genomic coordinates (GRCh38): 3:43,600,001-74,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3p21-p13 | [Mean platelet volume QTL2] | 612574 | 2 |
For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 (612573).
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 rs12485738, on chromosome 3p21-p13 upstream of the ARHGEF3 gene (612115). 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 rs12485738 reached a p value of 3.81 x 10(-27).
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. A total of 52 genomic loci reached statistical significance at the genomewide adjusted threshold of P less than or equal to 5 x 10(-8). Gieger et al. (2011) found that rs1354034 in the ARHGEF3 gene was associated with both MPV, with a p value 3.31 x 10(-69), and PLT, with a p value of 2.86 x 10(-54). Gieger et al. (2011) found that alterations in ARHGEF3 result in a profound effect on thrombopoiesis and erythropoiesis in D. rerio.
Gieger, C., Radhakrishnan, A., Cvejic, A., Tang, W., Porcu, E., Pistis, G., Serbanovic-Canic, J., Elling, U., Goodall, A. H., Labrune, Y., Lopez, L. M., Magi, R., and 151 others. New gene functions in megakaryopoiesis and platelet formation. Nature 480: 201-208, 2011. [PubMed: 22139419] [Full Text: https://doi.org/10.1038/nature10659]
Meisinger, C., Prokisch, H., Gieger, C., Soranzo, N., Mehta, D., Rosskopf, D., Lichtner, P., Klopp, N., Stephens, J., Watkins, N. A., Deloukas, P., Greinacher, A., and 10 others. A genome-wide association study identifies three loci associated with mean platelet volume. Am. J. Hum. Genet. 84: 66-71, 2009. [PubMed: 19110211] [Full Text: https://doi.org/10.1016/j.ajhg.2008.11.015]