rs2031920

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

This candidate gene study examined genetic polymorphisms in NNK (tobacco-specific nitrosamine) metabolism pathways and their association with urinary NNAL (NNK metabolite) levels in 92 current smokers (39 lung cancer cases, 53 controls). Three HSD11B1 SNPs (rs2235543, rs3753519, rs10863782) in intron 1 were significantly associated with decreased NNAL levels, with rs2235543 showing the strongest association (p=1.37E-07, beta=-0.27 to -0.39). AKR1C4 rs7083869 also showed association with decreased NNAL (p=0.019), while CYP2E1 rs915907 showed borderline significance under the dominant model (p=0.048).

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

This population genetics study examined genotype and allele frequencies of three CYP2E1 polymorphisms (CYP2E1*5B, *6, and *7B) in a sample of 206 healthy Turkish subjects. The CYP2E1*5B variant (rs2031920/rs3813867, C-1053T/G-1293C) showed a frequency of 1.94%, CYP2E1*6 (rs6413432, T7632A) showed 8.25%, and CYP2E1*7B (rs6413420, G-71T) showed 6.80%. Turkish frequencies were similar to other Caucasian populations but significantly different from East Asian populations.