Association of 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms with serum alanine aminotransferase activity

Aims: 11 beta-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 (>33 U/l in males, >25 U/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. (C) 2013 Elsevier Ireland Ltd. All rights reserved.