Table 2.
Genes influencing glucidic or lipid metabolism with a potential role in nonalcoholic fatty liver disease pathogenesis evaluated by candidate gene studies
| Gene | Functions of encoded protein | SNP |
| ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase1 or PC-1 | Interaction with the insulin receptor with consequent reduction of insulin receptor activity | rs1044498 |
| IRS-1, insulin receptor substrate 1 | Part of the machinery involved in insulin pathway as transductor of insulin receptor signaling | rs1801278 |
| ADIPOQ, adiponectin | Relevant adipocytokine associated with insulin resistance, type 2 diabetes, and NAFLD pathogenesis | rs2241766 rs1501299 |
| LEPR, leptin receptor | Receptor of leptin, a hormone synthesized by adipocytes that regulates food intake, insulin action, thermogenesis, and immune system | rs62589000 |
| rs6700986 | ||
| rs1137100 | ||
| rs1137101 | ||
| rs8179183 | ||
| RETN, Resistin | Adipocytokine involved in lipid metabolism, hepatic insulin resistance, inflammatory cascade reactions, and fibrogenesis | rs3745367 |
| PEMT, phosphatidylethanolamine N-methyltransferase | Enzyme involved in the de novo synthesis of phosphatidylcholine in the liver, a biochemical pathway essential for VLDL formation | rs7946 |
| FATP5, Fatty Acid Transport Protein 5 | Transporter involved in the hepatic uptake of fatty acids | rs56225452 |
| ADRB2 and ADRB3, β-adrenergic receptor 2 and 3 | β-adrenergic receptors, with several functions including regulation of basal metabolism and induction of lipolysis | rs4994 |
| rs1042714 | ||
| rs2053044 | ||
| rs11168070 | ||
| rs11959427 | ||
| rs1042711 | ||
| PPARα, peroxisome proliferative activated receptor α | Transcription factor whose activation improves steatosis, inflammation, and fibrosis in pre-clinical models of NAFLD | rs1800206 |
| PPARGC1A, peroxisome proliferator-activated receptor γ coactivator 1-α | PGC-1α, involved in mitochondrial functions, oxidative stress, gluconeogenesis, and lipogenesis | rs8192678 |
| rs2290602 | ||
| PPARγ, peroxisome proliferative activated receptor γ | Transcription factor whose activation improves IR, restores adipose tissue insulin sensitivity, and decreases fatty free acids flux to the liver | rs1801282 |
| APOE, apolipoprotein E | Mediator of remnant lipoprotein binding to LDL receptors to favor the clearance of chylomicrons and VLDL | N/A |
| APOC3, apolipoprotein C-III | A constituent of plasma VLDL, chylomicrons, and HDL-C that inhibits lipoprotein lipase and triglycerides clearance | rs2854116 |
| rs2854117 | ||
| MTTP, microsomal triglyceride transfer protein | Transfer protein involved in apoB-lipoprotein assembly | rs1800591 |
| rs1800804 | ||
| rs1057613 rs3805335 | ||
| LPIN1, lipin 1 | Phosphatase specifically involved in metabolic pathways between adipose tissue and liver | rs13412852 |
SNP: Single nucleotide polymorphism; NAFLD: Nonalcoholic fatty liver disease; HDL-C: High-density lipoprotein-cholesterols; VLDL: Very low density lipoprotein; LDL: Low density lipoprotein.