Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.

ABSTRACT:

Background

Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes. Mutations and genetic variations of LEPR gene have been discovered in rodents and humans. However, the association of DNA copy number variations at the LEPR gene locus with human complex diseases has not been reported. In an attempt to study DNA copy number variations associated with metabolic traits and type 2 diabetes mellitus (T2DM), we targeted the LEPR gene locus in DNA copy number analyses.

Results

We identified DNA copy number variations at the LEPR gene locus among a Korean population using genome-wide SNP chip data, and then quantified copy numbers of the E2 DNA sequence in the f

SUBMITTER: Jeon JP 

PROVIDER: S-EPMC2996954 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature