Gender-dependent penetrance of small heterodimer partner (SHP) gene deficiency in overweight/obese Chinese pedigrees.
Mutations of the small heterodimer partner (SHP) gene have been associated with mild obesity in Japanese subjects. This study was designed to investigate whether there was a similar association in 772 Chinese adults. A total of 272 subjects were normal weight, 423 were overweight and 77 were obese. Four non-synonymous mutations (R34X, H53fsdel10, G171A, G189E) were identified in 10 out of the 500 overweight/obese subjects, but were not seen in the normal weight controls (prevalence 2.00% versus 0.00%, respectively). The relatives of proband carriers, including 25 carriers and 33 non-carriers from three generations, were also screened for 10 multigenerational non-consanguineous pedigrees. A gender-dependent penetrance effect was observed in the pedigrees. Furthermore, the frequency of SHP gene mutations was significantly higher in those with type 2 diabetes compared with the non-diabetics (61.5% versus 28.1%, respectively). These data provide evidence of a gender-dependent effect on penetrance for SHP deficiency and suggest that SHP mutations increase susceptibility to type 2 diabetes.
Department of Endocrinology and Metabolism, Fudan University, Shanghai, China.
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D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009765:Obesity / Q000235:genetics* / Q000473:pathology; D050177:Overweight / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019683:Penetrance; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012737:Sex Factors
D018160:Receptors, Cytoplasmic and Nuclear; C099713:nuclear receptor subfamily 0, group B, member 2