Gandhi Kunal, Adhikari Prabha, Basu Arindam, Achappa Basavaprabhu
Department of General Medicine, Kasturba Medical College Hospital Attavar , Mangalore, Karnataka, India .
Metab Syndr Relat Disord. 2013 Dec;11(6):397-402. doi: 10.1089/met.2013.0049. Epub 2013 Jul 20.
The striking phenotypic similarities between metabolic syndrome and the Cushing syndrome of glucocorticoid excess have often been linked to 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which activates inert precursors like the cortisone, 11-dehydrocortisone to active glucocorticoids by oxo-reductase activity in several organs. Thus, increased expression of 11β-HSD1 is associated with insulin resistance, diabetes, hypertension, and dyslipidemia. In this study, we investigated the association of a common polymorphism of the HSD11B1 gene with metabolic syndrome and its components.
The study included 205 subjects, including 105 diagnosed with metabolic syndrome and 100 controls. The subjects were genotyped for the HSD11B1 gene polymorphism (rs12086634) T→G using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The distribution of the genotypes and its association with clinical and biochemical parameters were assessed.
There was a significant association between the HSD11B1 gene polymorphism (rs12086634) and occurrence of metabolic syndrome compared to controls (P<0.0001). Regarding the rs1206634 T→G variant, heterozygous patients had a higher systolic blood pressure (P=0.039), higher prevalence of diabetes (P=0.010), and higher total cholesterol levels (P=0.006) compared to homozygotes. However, there was no significant association of the polymorphism with obesity or specific body habitus.
We conclude that in a South Indian population, a polymorphism of the HSD11B1 gene containing the single-nucleotide polymorphism (SNP) rs12086634 T→G confers increased risk of metabolic syndrome.
代谢综合征与糖皮质激素过多所致库欣综合征之间显著的表型相似性常与11β-羟基类固醇脱氢酶1型（11β-HSD1）有关，该酶通过在多个器官中的氧化还原酶活性将可的松、11-脱氢皮质酮等惰性前体激活为活性糖皮质激素。因此，11β-HSD1表达增加与胰岛素抵抗、糖尿病、高血压和血脂异常相关。在本研究中，我们调查了HSD11B1基因的一种常见多态性与代谢综合征及其组分之间的关联。
该研究纳入205名受试者，其中105名被诊断为代谢综合征，100名作为对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对受试者的HSD11B1基因多态性（rs12086634）T→G进行基因分型。评估基因型分布及其与临床和生化参数的关联。
与对照组相比，HSD11B1基因多态性（rs12086634）与代谢综合征的发生存在显著关联（P<0.0001）。对于rs1206634 T→G变异，杂合子患者与纯合子相比，收缩压更高（P=0.039），糖尿病患病率更高（P=0.010），总胆固醇水平更高（P=0.006）。然而，该多态性与肥胖或特定体型之间无显著关联。
我们得出结论，在南印度人群中，包含单核苷酸多态性（SNP）rs12086634 T→G的HSD11B1基因多态性会增加代谢综合征的风险。
