Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.

ABSTRACT: Cytochrome P450 2E1, gene symbol CYP2E1, is one of a family of enzymes with a central role in activating and detoxifying xenobiotics and endogenous compounds. Genetic variation at this gene has been reported in different human populations, and some association studies have reported increased risk for cancers and other diseases. To the best of our knowledge, multi-single-nucleotide polymorphism haplotypes and linkage disequilibrium (LD) have not been systematically studied for CYP2E1 in multiple populations. Haplotypes can greatly increase the power both to identify patterns of genetic variation relevant for gene expression as well as to detect disease-related susceptibility mutations. We present frequency and LD data and analyses for 11 polymorphisms and their haplotypes that we have studi

SUBMITTER: Lee MY 

PROVIDER: S-EPMC2782390 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature