Variations in the PBEF1 gene are associated with body mass index: A population-based study in northern China

ObjectivePBEF1 and its polymorphisms may be important in the physiopathology of obesity. We hypothesized that polymorphisms in PBEF1 gene may modify body mass index (BMI).MethodsThus, we systematically screened 4 tagging polymorphisms (rs4730153, rs2058540, rs3801267 and rs16872158) in PBEF1 gene and evaluated the association between the genetic variants and BMI in a population-based study including 442 subjects in northern China.ResultsWe found that the SNP rs3801267 was significantly associated with decreased BMI (P = 0.026 in additive model), while the other 2 SNPs (rs4730153 and rs16872158) showed a borderline significant association with decreased BMI (P = 0.068 and 0.060 in additive models). Combined analysis of these 3 SNPs showed a significant allele–dosage association between the number of variant alleles and decreased BMI (Ptrend = 0.007).ConclusionsThese findings indicate that genetic variants in PBEF1 gene may modify individual BMI in the Chinese population.