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

@article{Stone2006TBC1D1IA,
  title={TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition.},
  author={Steven Stone and Victor Abkevich and Deanna L. Russell and Robyn A Riley and Kirsten M. Timms and T. -N. Tran and Deborah J Trem and David M. Frank and Srikanth Jammulapati and Chris D. Neff and Diana Iliev and Richard E Gress and Gongping He and G Christopher Frech and Ted D. Adams and Mark H. Skolnick and Jerry S. S. Lanchbury and Alexander Gutin and Steven C. Hunt and Donna M. Shattuck},
  journal={Human molecular genetics},
  year={2006},
  volume={15 18},
  pages={2709-20}
}
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… CONTINUE READING

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