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. 2006 Sep 15;15(18):2709-20.
doi: 10.1093/hmg/ddl204. Epub 2006 Aug 7.

TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition

Steven Stone  1 , Victor Abkevich, Deanna L Russell, Robyn Riley, Kirsten Timms, Thanh Tran, Deborah Trem, David Frank, Srikanth Jammulapati, Chris D Neff, Diana Iliev, Richard Gress, Gongping He, Georges C Frech, Ted D Adams, Mark H Skolnick, Jerry S Lanchbury, Alexander Gutin, Steven C Hunt, Donna Shattuck
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TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition

Steven Stone et al. Hum Mol Genet. .

Abstract

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 (P=0.000007) and chromosomes carrying R125W accounted for the majority of the evidence that originally linked 4p15-14 with the disease. In addition, by selecting families that segregated R125W with obesity, we were able to generate highly significant linkage evidence for an obesity predisposition locus at 4q34-35. This result provides additional and confirming evidence that R125W affects obesity susceptibility, delimits the location of an obesity gene at 4q34-35 and identifies a gene/gene interaction that influences the risk for obesity predisposition. Finally, although the function of TBC1D1 is unknown, the protein is structurally similar to a known regulator of insulin-mediated Glut4 translocation.

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