Digenic inheritance of severe insulin resistance in a human pedigree

  title={Digenic inheritance of severe insulin resistance in a human pedigree},
  author={David B Savage and Maura Agostini and In{\^e}s Barroso and Mark Gurnell and Jian’an Luan and Aline Meirhaeghe and A. H. Harding and Gudrun Ihrke and Odelia Rajanayagam and Maria A. Soos and Shakeeta George and Dirk Berger and E. Louise Thomas and Justin David Bell and Karim Meeran and Robert J. Ross and Antonio Vidal-Puig and Nicholas J Wareham and Stephen O'Rahilly and V. Krishna K. Chatterjee and Alan J. Schafer},
  journal={Nature Genetics},
Impaired insulin action is a key feature of type 2 diabetes and is also found, to a more extreme degree, in familial syndromes of insulin resistance. Although inherited susceptibility to insulin resistance may involve the interplay of several genetic loci, no clear examples of interactions among genes have yet been reported. Here we describe a family in which five individuals with severe insulin resistance, but no unaffected family members, were doubly [corrected] heterozygous with respect to… CONTINUE READING
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