A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.

ABSTRACT: UDP-glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4) is an important metabolizing enzyme involved in the clearance of many xenobiotics and endogenous substrates, especially steroid hormones and bile acids. The HapMap data show that numerous SNPs upstream of UGT2B4 are in near-perfect linkage disequilibrium with each other and occur at intermediate frequency, indicating that this region might contain a target of natural selection. To investigate this possibility, we chose three regions (4.8 kb in total) for resequencing and observed a striking excess of intermediate-frequency alleles that define two major haplotypes separated by many mutation events and with little differentiation across populations, thus suggesting that the variation pattern upstream UGT2B4 is highly unusual and m

SUBMITTER: Sun C 

PROVIDER: S-EPMC4478588 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature