Article
Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Obesity (Silver Spring, Md.) - 1 Dec 2011
Swarbrick Michael M, Evans Daniel S, Valle Maria I, Favre Hélène, Wu Shi-Hsuan, Njajou Omer T, Li Rongling, Zmuda Joseph M, Miljkovic Iva, Harris Tamara B, Kwok Pui-Yan, Vaisse Christian, Hsueh Wen-Chi
Abstract excerpt
Haplo-insufficiency of the bHLH (basic helix-loop-helix) transcription factor single-minded 1 (SIM1) causes severe obesity in mice and humans. We hypothesized that common genetic variations in/near SIM1 could exert more subtle effects on its function and associate with human adiposity. First, SIM1 coding regions were sequenced in severely obese subjects, and two common nonsynonymous single-nucleotide...
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