Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.

ABSTRACT:

Background

The SH2B1 gene (Src-homology 2B adaptor protein 1 gene) is a solid candidate gene for obesity. Large scale GWAS studies depicted markers in the vicinity of the gene; animal models suggest a potential relevance for human body weight regulation.

Methods

We performed a mutation screen for variants in the SH2B1 coding sequence in 95 extremely obese children and adolescents. Detected variants were genotyped in independent childhood and adult study groups (up to 11,406 obese or overweight individuals and 4,568 controls). Functional implications on STAT3 mediated leptin signalling of the detected variants were analyzed in vitro.

Results

We identified two new rare mutations and five known SNPs (rs147094247, rs7498665, rs60604881, rs62037368 and rs62037369) in SH2B1

SUBMITTER: Volckmar AL 

PROVIDER: S-EPMC3544595 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature