A population association study of PPAR δ gene rs2016520 and rs9794 polymorphisms and haplotypes with body mass index and waist circumference in a Chinese population

Background: Peroxisome proliferator-activated receptor (PPAR) gene plays an important role in obesity and PPAR protein is a potent inhibitor; however, few previous studies have focused on this gene. Aim: To investigate the association of haplotypes of PPAR gene rs2016520 and rs9794 with abnormal weight (BMI24kg/m(2)) and abdominal obesity (WC90cm for males and80cm for females) in a Chinese Han population. Subjects and methods: In total, 820 subjects (270 men, 550 women) were randomly selected from the PMMJS cohort population and no individuals were related. rs2016520 and rs9794 were detected by TaqMan fluorescence probe. Hardy-Weinberg equilibrium (HWE) was used to detect genotype typing errors by Fisher's exact test. Linkage disequilibrium (LD) between polymorphisms was estimated by using SHEsis. Two PPAR SNPs (rs2016520 and rs9794) were analysed by using the logistic regression model. Results: After adjustment for covariates, the haplotype containing the rs1026520-C and rs9794-C alleles was associated with a statistically significant decreased risk of obesity (OR=0.64; 95% CI=0.48-0.84, p=0.0015). Coincidentally, the haplotype containing the rs1026520-C and rs9794-C alleles was also associated with a statistically decreased risk of abdominal obesity after covariate adjustment (OR=0.59, 95% CI=0.45-0.77, p<0.001). Conclusion: C-C haplotype, constructed from rs2016520 and rs9794 alleles, showed a significant protective effect for both abnormal weight and abdominal obesity.