title: Association of 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms with serum alanine aminotransferase activity.
abstract: OBJECTIVE
  11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in pathogenesis of non-alcoholic fatty liver disease (NAFLD). Serum alanine aminotransferase (ALT), an indicator of hepatocellular injury, has been suggested as a surrogate marker for NAFLD. To date, no study has specifically examined the relationship between HSD11B1 gene polymorphisms and ALT.
  
  
  METHODS
  A study was conducted to examine the association of common single nucleotide polymorphisms (SNPs) in HSD11B1 (rs12086634, rs1000283) with serum ALT level in 756 Korean subjects (348 males and 408 females). ALT values were divided into two groups: elevated (>33U/l in males, >25U/l in females) and normal.
  
  
  RESULTS
  SNPs showed a significant association with elevated ALT. According to results of logistic regression analysis adjusted for confounding variables, the GT+GG genotype for rs12086634 and the GA+AA genotype for rs1000283 showed significantly higher frequencies of elevated ALT, compared with the TT and GG genotypes, respectively (GT/GG vs. TT; OR 1.685, 95% CI 1.175-2.416, P=0.005, GA/AA vs. GG; OR 2.057, 95% CI 1.401-3.020, P<0.001, respectively).
  
  
  CONCLUSIONS
  HSD11B1 polymorphisms (rs12086634 and rs1000283) are associated with elevated levels of ALT. Findings from this study suggest a possible association between HSD11B1 polymorphisms and hepatocellular injury, such as that seen in patients with NAFLD.
authors: Department of Internal Medicine, Dongguk University College of Medicine, Gyeongju, South Korea.
authors: Seong-Su
authors: SS
authors: Moon
authors: Young-Sil
authors: YS
authors: Lee
authors: Jung-Guk
authors: JG
authors: Kim
authors: In-Kyu
authors: IK
authors: Lee
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics*; D000410:Alanine Transaminase / Q000097:blood* / Q000235:genetics; D044466:Asian People / Q000235:genetics; D005234:Fatty Liver / Q000097:blood* / Q000201:enzymology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease; D020641:Polymorphism, Single Nucleotide
chemical_list: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1; D000410:Alanine Transaminase