Aims To investigate the prevalence of the Gly482Ser polymorphism of the PPARGC1 gene in a northern Chinese population and to clarify the susceptibility of individuals with the Gly482Ser polymorphism to insulin resistance and related diseases.
Methods We studied the association of the Gly482Ser polymorphism identified in the PPARGC1 gene with Type 2 diabetes mellitus (T2DM) in 390 unrelated patients with T2DM and 525 control subjects with normal glucose tolerance. Clinical parameters and measures of insulin resistance were recorded. Genotypes were determined by the polymerase chain reaction—restriction fragment length polymorphism (PCR-RFLP) method, which was further confirmed by direct sequencing in 20 randomly selected cases.
Results The Gly482Ser polymorphism was common in the northern Chinese population. Univariate analysis indicated no statistically significant differences in allele frequencies or genotype frequencies of the Gly482Ser polymorphism in diabetic and control subjects (minor 482Ser allele frequency 44.4 vs. 41.4%, P = 0.169). However, logistic regression analysis demonstrated a positive 1.645-fold higher risk of the Ser/Ser genotype for T2DM (P = 0.039, 95% CI = 1.026–2.632). After stratification by gender, the risk of Type 2 diabetes in men was increased 1.852-fold (95% CI = 1.125–3.049) in those with the Ser/X genotype compared with those with the Gly/Gly genotype (P = 0.015). No associations were observed between the Gly482Ser polymorphism and parameters of insulin resistance, obesity and hypertension.
Conclusion The Gly482Ser variant of the PPARGC1 gene might contribute to susceptibility to T2DM in northern Chinese subjects. The Ser/X genotype of the Gly482Ser polymorphism in the PPARGC1 gene appears to be a risk factor for T2DM in northern Chinese men.