title: Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population.
abstract: BACKGROUND
  The enzyme 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) catalyzes the conversion of the hormonally inactive cortisone to active cortisol, thus facilitating glucocorticoid receptor activation in target tissues. Increased expression of 11beta-HSD1 in adipose tissue has been associated with obesity and insulin resistance. In this study, we investigated the association of two 11beta-HSD1 gene (HSD11B1) polymorphisms with the metabolic syndrome (MetS) and its characteristics in the Bosnian population.
  
  
  METHODS
  The study included 86 participants: 43 patients diagnosed with MetS and 43 healthy controls. Subjects were genotyped for two HSD11B1 gene polymorphisms: rs846910: G > A and rs45487298: insA, by the high resolution melting curve analysis. Genotype distribution and an influence of genotypes on clinical and biochemical parameters were assessed.
  
  
  RESULTS
  There was no significant difference in the mutated allele frequencies for the two HSD11B1 gene polymorphisms between MetS patients and controls. In MetS patients, no significant associations between disease-associated traits and rs45487298: insA were found. Regarding rs846910: G > Avariant, heterozygous patients (G/A) had significantly lower systolic (P = 0.017) and diastolic blood pressure (P = 0.015), lower HOMA-IR index (P = 0.011) and higher LDL-cholesterol levels (P = 0.049), compared to the wild-type homozygotes. In the control group, rs45487298: insA polymorphism was associated with lower fasting plasma insulin levels (P = 0.041), lower homeostasis model assessment insulin resistance (HOMA-IR) index (P = 0.041) and lower diastolic blood pressure (P = 0.048). Significant differences between rs846910: G > A genotypes in controls were not detected. Haplotype analysis confirmed the association of rs45487298: insA with markers of insulin resistance in the control subjects.
  
  
  CONCLUSIONS
  Our results indicate that a common rs45487298: insA polymorphism in HSD1181 gene may have a protective effect against insulin resistance.
authors.affiliation: Department of Biochemistry and Clinical Analysis, Faculty of Pharmacy, University of Sarajevo, Sarajevo, Bosnia and Herzegovina. tanja.dujic@gmail.com
authors.forename: Tanja
authors.initials: T
authors.lastname: Dujic
authors.forename: Tamer
authors.initials: T
authors.lastname: Bego
authors.forename: Barbara
authors.initials: B
authors.lastname: Mlinar
authors.forename: Sabina
authors.initials: S
authors.lastname: Semiz
authors.forename: Maja
authors.initials: M
authors.lastname: Malenica
authors.forename: Besim
authors.initials: B
authors.lastname: Prnjavorac
authors.forename: Barbara
authors.initials: B
authors.lastname: Ostanek
authors.forename: Janja
authors.initials: J
authors.lastname: Marc
authors.forename: Adlija
authors.initials: A
authors.lastname: Causevic
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics*; D000328:Adult; D015992:Body Mass Index; D017522:Bosnia and Herzegovina / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics*; D008297:Male; D024821:Metabolic Syndrome / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D007328:Insulin; D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1