Evans David M, Zhu Gu, Duffy David L, Montgomery Grant W, Frazer Ian H, Martin Nicholas G
Queensland Institute of Medical Research, Brisbane, Australia.
Eur J Hum Genet. 2004 Oct;12(10):835-42. doi: 10.1038/sj.ejhg.5201248.
Platelet count is a highly heritable trait with genetic factors responsible for around 80% of the phenotypic variance. We measured platelet count longitudinally in 327 monozygotic and 418 dizygotic twin pairs at 12, 14 and 16 years of age. We also performed a genome-wide linkage scan of these twins and their families in an attempt to localize QTLs that influenced variation in platelet concentrations. Suggestive linkage was observed on chromosome 19q13.13-19q13.31 at 12 (LOD = 2.12, P = 0.0009), 14 (LOD = 2.23, P = 0.0007) and 16 (LOD = 1.01, P = 0.016) years of age and multivariate analysis of counts at all three ages increased the LOD to 2.59 (P = 0.0003). A possible candidate in this region is the gene for glycoprotein VI, a receptor involved in platelet aggregation. Smaller linkage peaks were also seen at 2p, 5p, 5q, 10p and 15q. There was little evidence for linkage to the chromosomal regions containing the genes for thrombopoietin (3q27) and the thrombopoietin receptor (1q34), suggesting that polymorphisms in these genes do not contribute substantially to variation in platelet count between healthy individuals.
