Ruan Li Li, Xu Jun, Wang Chun Lin, Zou Chao Chun
Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine and The Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 57 Zhugan Xiang, Hangzhou, 310003, China,
J Endocrinol Invest. 2014 Jun;37(6):565-73. doi: 10.1007/s40618-014-0075-8. Epub 2014 Apr 11.
To investigate the relationship between 11β-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.
探讨11β-羟类固醇脱氢酶（HSD11B）1型和2型基因与中国儿童肥胖之间的关系。
共纳入400名肥胖青少年和200名健康青少年作为肥胖组和对照组。采用MassArray自动化平台检测HSD11B1基因的7个单核苷酸多态性（SNP，rs4393158、rs2235543、rs10082248、rs10863782、rs2236903、rs2298930、rs4545339）以及HSD11B2基因的4个变异位点（rs28934592、rs28934591、rs28934594和rs28934593）。
HSD11B2基因的rs28934592以及HSD11B1基因的rs10863782被排除为假阳性或哈迪-温伯格平衡（HWE）P<0.05。此外，在HSD11B2基因的其他三个位点发现一种等位基因类型。rs2235543和rs10082248的次要等位基因频率在患者中高于对照组（分别为P = 0.045，P = 0.041）。rs10082248、rs2298930和rs4545339在隐性模型中与肥胖风险相关（P均<0.05）。此外，在rs10082248基因中，GG或AG基因型患者的总胆固醇显著高于AA基因型患者。rs4393158在对数加性模型检验中与高血压相关（P = 0.037），在显性模型检验中与血糖异常和高胆固醇血症相关（P均<0.05），而rs2235543在超显性模型检验中与高胆固醇血症相关（P = 0.017）。
HSD11B1基因多态性可能是儿童肥胖的一个原因，甚至与儿童肥胖并发症有关。然而，HSD11B2基因变异可能不是肥胖的原因。
