Table 3.
Genes potentially involved in mechanisms of liver injury in nonalcoholic fatty liver disease evaluated by candidate gene studies
| Gene | Functions of encoded protein | SNP |
| TNF-α, tumor necrosis factor-α | Proinflammatory cytokine also involved in the regulation of insulin resistance, release of free fatty acids, and apoptosis in hepatocytes | rs1800629 |
| rs361525 | ||
| rs1799964 | ||
| rs1800630 | ||
| TRAIL, TNF-related apoptosis -inducing ligand | Protein functioning as a ligand that induces celluar apoptosis | rs6763816 rs4491934 |
| IL-6, interleukin-6 | Proinflammatory cytokine produced by adipocytes, hepatocytes, and immune cells also involved in the modulation of insulin resistance | rs1800795 |
| IL-1β, interleukin-1β | Member of IL-1 family cytokine, mainly produced by adipose tissue | rs16944 |
| TLR4, toll-like receptor 4 | Receptor involved in the interaction with bacterial endotoxins capable to favor hepatic injury and a proinflammatory systemic status | rs4986790 |
| IL28B, interleukin-28B | Cytokine belonging to the type III Interferon family | rs12979860 |
| SOD2, superoxide dismutase 2 | Manganese-dependent mitochondrial enzyme involved in protection from cellular injury induced by superoxide radicals | rs4880 |
| CYP2E1, cytochrome P450 2E1 | Part of the cytochrome P450 complex | rs2031920 |
| UCP3, uncoupling protein 3 | Mitochondrial anion carrier involved in the metabolism of superoxide radicals and in the modulation of lipid homeostasis | rs1800849 rs11235972 |
| UCP2, uncoupling protein 2 | Similar to uncoupling protein 3 | rs695366 |
| MTHFR, methylenetetrahydrofolate reductase | Enzyme involved in the methylation of homocysteine to methionine | rs1801133 |
| rs1801131 | ||
| GCLC, Glutamate-cysteine ligase catalytic subunit | Limiting enzyme in the formation of glutathione, a relevant endogen antioxidant | rs17883901 |
| HFE, hemochromatosis | Crucial protein for the regulation of iron homeostasis via the modulation of the expression of hepcidin | rs1800562 |
| rs1799945 | ||
| TMPRSS6, trans-membrane protease serine 6 | Matriptase-2, which cleaves the membrane-bound hemojuvelin, the co-receptor required for hepcidin expression in the liver | rs855791 |
| KLF6, kruppel-like factor 6 | One of the Kruppel-like factors, a family of transcriptional factors that regulate cellular proliferation, differentiation, and apoptosis | rs3750861 |
| TGF-β1, transforming growth factor β1 | In the liver, a promoter of hepatic fibrosis via the activation of hepatic stellate cells | rs1800471 |
| ATII, angiotensin II | Part of the renin-angiotensin system, also advocated as an inducer of TGF-β1 production and accumulation of extracellular matrix in the liver | rs699 |
| AGTR1, Angiotensin II Type 1 Receptor | Type 1 Receptor of Angiotensin II | rs3772622 rs3772633 rs2276736 rs3772630 rs3772627 |
SNP: Single nucleotide polymorphism; TGF: Transforming growth factor.