Effects of genetic variation in the visfatin gene (PBEF1) on obesity, glucose metabolism, and blood pressure in children

Visfatin is a peptide predominantly expressed in visceral adipose tissue and was hypothesized to be related to obesity and insulin resistance. In the present study, we investigated the effects of genetic variations in the visfatin gene (pre-B-cell colony-enhancing factor 1 [PBEF1]) on obesity, metabolic parameters, and blood pressure (BP) in 2 children cohorts. We genotyped 3 representative single nucleotide polymorphisms (rs9770242, −948G>T, rs4730153) in 731 schoolchildren and in an independent cohort of 167 obese children. There was no association of any of the 3 polymorphisms or their haplotypes with body mass index (BMI), waist-to-hip ratio, or parameters of glucose, insulin, or lipid metabolism in either cohort. However, the −948G variant was associated with significantly higher diastolic BP in obese children (P < .05 after adjusting for age, sex, pubertal stage, and height). Haplotype analyses confirmed the [T-G-A] haplotype to be significantly related to increased diastolic BP in both schoolchildren and obese children. In conclusion, genetic variants in PBEF1 may be associated with increased BP in children but are not likely to contribute significantly to the variation in body mass index and glucose, insulin, or lipid metabolism.