title: Association between a 11β-hydroxysteroid dehydrogenase type 1 gene polymorphism and metabolic syndrome in a South Indian population.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of General Medicine, Kasturba Medical College Hospital Attavar , Mangalore, Karnataka, India .
authors.forename: Kunal
authors.initials: K
authors.lastname: Gandhi
authors.forename: Prabha
authors.initials: P
authors.lastname: Adhikari
authors.forename: Arindam
authors.initials: A
authors.lastname: Basu
authors.forename: Basavaprabhu
authors.initials: B
authors.lastname: Achappa
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007194:India; D007333:Insulin Resistance; D008297:Male; D024821:Metabolic Syndrome / Q000208:ethnology / Q000235:genetics*; D008875:Middle Aged; D009765:Obesity; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013599:Systole
chemical_list: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1