Variants of 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 in Chinese obese adolescents

To investigate the relationship between 11 beta-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 and obesity in Chinese children. A total of 400 obese and 200 healthy adolescents were enrolled as obese and control groups. Seven SNPs in HSD11B1 (rs4393158, rs2235543, rs10082248, rs10863782, rs2236903, rs2298930, rs4545339) and four variants in HSD11B2 gene (rs28934592, rs28934591, rs28934594 and rs28934593) were measured by automated platform MassArray. The rs28934592 in HSD11B2 and rs10863782 in HSD11B1 were excluded as false positive or HWE P < 0.05. Moreover, one allele type was found in the other three locations of HSD11B2. The minor allele frequency of rs2235543 and rs10082248 was higher in patients than that in controls (P = 0.045, P = 0.041, respectively). The rs10082248, rs2298930 and rs4545339 were associated with the risk of obesity in the recessive model (P < 0.05, respectively). Moreover, the total cholesterol in patients with GG or AG genotype was significantly higher than that in patients with AA genotype in rs10082248. The rs4393158 was associated with the hypertension in log-additive model test (P = 0.037), and glucose abnormal and hypercholesteremia in dominant model test (P < 0.05, respectively), while the rs2235543 was associated with hypercholesteremia in overdominant model test (P = 0.017). The polymorphism of HSD11B1 may be a cause of childhood obesity, or even associated with the complication of childhood obesity. However, variants of HSD11B2 may be not a cause of obesity.