Prevalence of loss-of-function FTO mutations in lean and obese individuals.

ABSTRACT:

Objective

Single nucleotide polymorphisms (SNPs) in intron 1 of fat mass- and obesity-associated gene (FTO) are strongly associated with human adiposity, whereas Fto(-/-) mice are lean and Fto(+/-) mice are resistant to diet-induced obesity. We aimed to determine whether FTO mutations are disproportionately represented in lean or obese humans and to use these mutations to understand structure-function relationships within FTO.

Research design and methods

We sequenced all coding exons of FTO in 1,433 severely obese and 1,433 lean individuals. We studied the enzymatic activity of selected nonsynonymous variants.

Results

We identified 33 heterozygous nonsynonymous variants in lean (2.3%) and 35 in obese (2.4%) individuals, with 8 mutations unique to the obese and 11 uniq

SUBMITTER: Meyre D 

PROVIDER: S-EPMC2797938 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature