Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han Chinese population

Abstract Aims The peroxisome proliferator-activated receptor-γ coactivator-1α (PPARGC1A) is a transcriptional factor that regulates the genes involved in energy metabolism. Single nucleotide polymorphisms (SNPs) in the PPARGC1A gene have been conflictingly reported to be associated with type 2 diabetes (T2D) in several populations. The present study aimed to evaluate the association of PPARGC1A genetic polymorphisms with T2D in Han Chinese population. Methods SNPs in the PPARGC1A gene were validated and six valid SNPs, including rs13131226, rs7656250, rs2970856, rs8192678, rs3736265 and rs3774923 were genotyped in 1090 subjects (595 patients and 495 controls) with a protocol of PCR-restriction fragment length polymorphism (PCR-RFLP). Results Single marker association analysis was conducted and there was no significant association between the PPARGC1A polymorphisms and T2D in Han Chinese population. Haplotype analysis with multiple loci, however, indicated that a common haplotype C-T-T-G-C-G was significantly associated with the increased risk of T2D ( P =0.001, OR=1.80, 95%CI 1.24–2.63). There was no significant association between genotypes or haplotypes of PPARGC1A and T2D related phenotypes. Conclusion The present study provides evidence that a common haplotype of PPARGC1A genetic polymorphisms are moderately associated with T2D in Han Chinese population.