Abstract
Aims While steroidogenic factor 1 (SF-1) is traditionally an essential nuclear receptor for steroidogenic tissues, current emerging studies revealed that the receptor is also closely implicated in metabolism. Mutations of SF-1 gene cause metabolic disorders like obesity in both human and mice. The aim of the present study is to examine whether the Gly146 Ala variation in the gene for SF-1, that is known to impair SF-1 function and related to adrenal disorders, affects susceptibility to type 2 diabetes. Methods Hundred and fifty-one type 2 diabetic subjects and 141 non-diabetic control subjects of Han Chinese were recruited and the SF-1 genotype were analyzed by PCR-RFLP method. Results The Gly146 Ala variation occurs frequently in the Han Chinese. Allele Ala frequency in the control subjects (27.3%) was significantly lower than that in type 2 diabetic subjects (37.1%, χ 2 = 6.37, p = 0.01). The Gly/ Ala and Ala/ Ala genotypes frequencies were also higher in diabetic subjects. In both the diabetic and control populations, subjects carrying allele Ala, as compared to those not, had higher fasting insulin levels and higher HOMA values. Conclusions The SF-1 Gly146 Ala variation may constitute a susceptible factor for development of type 2 diabetes and impairment of insulin actions.
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