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

Aims: The peroxisome proliferator-activated receptor-gamma coactivator-1 alpha (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-TG-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. (C) 2009 Elsevier Ireland Ltd. All rights reserved.