Natural selection and functional genetic variation in the p53 pathway.

ABSTRACT: The allele frequencies of two functional single-nucleotide polymorphisms (SNPs) in the p53 pathway, the MDM2 SNP309 and TP53 Arg72Pro, vary dramatically among populations. That the frequencies of the TP53 SNP follow a clinal distribution may suggest that selective pressure from environmental variables correlated with latitude contributed to these observed population differences. Recently, winter temperature and UV radiation were found to be significantly correlated with the TP53 and the MDM2 SNPs, respectively, in East Asians; whether these correlations are more extreme than expected based upon nonselective factors such as patterns of human migration remains unclear. Here, we genotyped these two SNPs in 971 unrelated individuals from 52 unique populations worldwide and tested for correlati

SUBMITTER: Sucheston L 

PROVIDER: S-EPMC3063984 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature