Article
TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition.
Human molecular genetics - 15 Sept 2006
Stone Steven, Abkevich Victor, Russell Deanna L, Riley Robyn, Timms Kirsten, Tran Thanh, Trem Deborah, Frank David, Jammulapati Srikanth, Neff Chris D, Iliev Diana, Gress Richard, He Gongping, Frech Georges C, Adams Ted D, Skolnick Mark H, Lanchbury Jerry S, Gutin Alexander, Hunt Steven C, Shattuck Donna
Abstract excerpt
The molecular etiology of obesity predisposition is largely unknown. Here, we present evidence that genetic variation in TBC1D1 confers risk for severe obesity in females. We identified a coding variant (R125W) in TBC1D1 that segregated with the disease in 4p15-14-linked obesity pedigrees. In cases derived from pedigrees with the strongest linkage evidence, the variant was significantly associated with obesity...
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