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

Ann Hum Biol. 2016;43(1):67-72. doi: 10.3109/03014460.2015.1023847. Epub 2015 Jun 15.

Abstract

Background: Peroxisome proliferator-activated receptor (PPAR) gene plays an important role in obesity and PPAR δ protein is a potent inhibitor; however, few previous studies have focused on this gene.

Aim: To investigate the association of haplotypes of PPAR δ gene rs2016520 and rs9794 with abnormal weight (BMI ≥ 24 kg/m(2)) and abdominal obesity (WC ≥ 90 cm for males and ≥ 80 cm 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 δ 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.

Keywords: BMI; haplotype; peroxisome proliferator-activated receptors δ; polymorphisms; waist circumference.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anthropometry
  • Body Mass Index
  • Body Weight
  • China / ethnology
  • Female
  • Follow-Up Studies
  • Genetics, Population*
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Obesity, Abdominal / genetics*
  • PPAR delta / genetics*
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Regression Analysis
  • Sequence Analysis, DNA
  • Waist Circumference

Substances

  • PPAR delta