Human Biology Open Access Pre-Prints

Document Type

Article

Anticipated Volume

94

Anticipated Issue

4

Abstract

The genetic variant rs10974944 (C>G) in the JAK2 gene is associated with a higher risk of myeloproliferative neoplasms (MPNs) by increasing the probability of the somatic mutation V617F in the JAK2 protein. For this reason, we evaluated the distribution of rs10974944 in Mexican populations, including published data from association studies in worldwide populations. We analyzed five Mestizo (admixed) (n= 200) and four Native American population samples from Mexico (n= 200), representing the North, Center, West, and South regions of this country. Therefore, we genotyped rs10974944 by qPCR using Taqman probes. Allele and genotype frequencies were estimated in each population sample. The wild-type allele C, the homozygous C/C, and the heterozygous C/G were the most frequent in all Mexican populations. The genotype distribution in all these population samples were in Hardy-Weinberg equilibrium. Interestingly, genetic distances clustered most of the worldwide patient samples, including to Tarahumaras and Mayas, and they showed differences with Mexican and control samples. Although higher genetic susceptibility to MPNs could be predicted in these Native American populations, the homogeneous allele distribution among Mexican and worldwide control populations, compels to analyze further genetic and non-genetic factors. In brief, although worldwide population samples displayed homogeneous distribution for rs10974944, the genetic clustering of worldwide patients supports the claimed association with myeloproliferative neoplasms.

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