Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

ABSTRACT:

Background

DGAT2 is a promising candidate gene for obesity because of its function as a key enzyme in fat metabolism and because of its localization on chromosome 11q13, a linkage region for extreme early onset obesity detected in our sample. We performed a mutation screen in 93 extremely obese children and adolescents and 94 healthy underweight controls. Association studies were performed in samples of up to 361 extremely obese children and adolescents and 445 healthy underweight and normal weight controls. Additionally, we tested for linkage and performed family based association studies at four common variants in the 165 families of our initial genome scan.

Results

The mutation screen revealed 15 DNA variants, four of which were coding non-synonymous exchanges: p.Val82Ala

SUBMITTER: Friedel S 

PROVIDER: S-EPMC1871603 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature