Table 1.
NAFLD-associated SNPs published between 2016 and 2021
| Genes | SNP ID | Risk allele | Associations with NAFLD | |
|---|---|---|---|---|
| PNPLA3 | ||||
| rs738409 | G | Aggravate hepatosteatosis[9-17] | ||
| Development of NAFLD[14,18-34] | ||||
| Elevated alanine aminotransferase levels[10,17,35-38] | ||||
| Associated with NASH[22,39-43] | ||||
| Associated with hepatic fat fractions[44] | ||||
| Associated with hepatocyte ballooning[41] | ||||
| Lobular and portal inflammation[41] | ||||
| Increased liver graft fat content[45] | ||||
| Elevated level of TGs[21,37] | ||||
| Increased liver fibrosis[13,14,17,22,34,36,42,46-50] | ||||
| Associated with cirrhosis[22] | ||||
| Increased AST levels[13,34,37,38] | ||||
| Higher body mass index[37] | ||||
| Higher serum level of γ-glutamyltransferase, ALP, total cholesterol, LDL, and uric acid [37] | ||||
| Higher serum level of CK18-M30[14] | ||||
| Increased severity of liver histology[33,49] | ||||
| Increased steatohepatitis, low level of high-density lipoprotein, and higher insulin resistance[17] | ||||
| rs4823173 | A | Associated with increased AST levels[51] | ||
| rs2896019 | G | Associated with increased AST levels[51,52] | ||
| Associated with NAFLD[52,53] | ||||
| Associated with increased ALT levels and decreased serum TGs and higher levels of LDL[52] | ||||
| rs2281135 | A | Associated with AST levels[51] | ||
| Associated with hepatocyte ballooning and NASH[41] | ||||
| Lobular and portal inflammation[41] | ||||
| Associated with NAFLD[27,54] | ||||
| Associated with advanced fibrosis[50] | ||||
| rs3810622 | T | Associated with NAFLD, increased ALT levels, and higher level of blood glucose[52] | ||
| Elevated ALT levels[35] | ||||
| rs12483959 | A | Associated with NAFLD[27] | ||
| rs143392071 | G | Increased NAFLD risk[55] | ||
| rs2143571 | A | Associated with advanced fibrosis[50] | ||
| MBOAT7 | ||||
| rs626283 | C | Associated with NAFLD and may affect glucose metabolism by modulating intrahepatic fat content[56] | ||
| rs641738 | T | Contributes to hepatic inflammation[57] | ||
| Increased fibrosis[13,57,58] | ||||
| Higher ALT levels[58,59] | ||||
| Associated with increased liver injury[13] | ||||
| Associated with NAFLD risk[14,24] | ||||
| Associated with severe hepatic steatosis[14,58] | ||||
| TM6SF2 | ||||
| rs58542926 | T | Associated with or independent risk factors of hepatic steatosis[13,60,61] | ||
| Elevated ALT levels[13,61] | ||||
| Independent predictors of NASH[60] | ||||
| Increased levels of aminotransferases[36] | ||||
| Associated with advanced fibrosis[32] | ||||
| Associated with the risk of NAFLD[23,24,37,61,62] | ||||
| Associated with liver injury, deleterious effects on liver health, modulate hepatic fat accumulation, and Increased serum AST[13] | ||||
| IL-17A | rs2275913 | A | Development of NAFLD in obese patients[63] | |
| COL13A1 | rs1227756 | A | Higher risk of elevated ALT levels[35] | |
| SAMM50 | rs3761472 | G | Associated with hepatocyte ballooning, lobular and portal inflammation, and NASH[41] | |
| Significant associations with NAFLD[27] | ||||
| rs2143571 | A | Significant associations with NAFLD[27] | ||
| rs2073080 | T | Significant associations with NAFLD[27] | ||
| IL-6 | rs1800795 | C | Associated with the development of NASH[64] | |
| Higher risk of steatosis with less parenchymal damage[65] | ||||
| Increased risk of NAFLD, higher BMI, fat mass, % body fat, waist circumference, serum TGs, total cholesterol, ALP, AST, and fasting insulin levels[66] | ||||
| rs10499563 | C | Associated with the presence of definitive NASH, increased ballooning, and Mallory bodies[65] | ||
| IL-1B | rs1143634 | T | Associated with advanced fibrosis and increased Mallory bodies[65] | |
| FNDC5 | rs3480 | G | More severe steatosis[67] | |
| AGTR1 | rs5186 | C | Predictor of NAFLD incidence and severity[68] | |
| PPARGC1A | rs8192678 | A | Risk factor for the development of NAFLD[69] | |
| CD82 | rs2303861 | G | Involved in the development and progression of NAFLD[70] | |
| UCP2 | rs659366 | A | Higher risk of NAFLD[71] | |
| T | Determinant of fibrosis severity[15] | |||
| TNF-α | rs1800629 | A | Higher risk of NASH development[72] | |
| rs1799964 | C | Independent risk factors contributing to histological progression of NASH[73] | ||
| NNMT | rs694539 | A | Risk factor for developing NAFLD and NASH, correlated with the steatosis degree[74] | |
| HSD11B1 |
rs2235543
rs12565406 rs4844880 |
C G T |
Increased risk of NAFLD development and higher liver fat content[75] | |
| PTPRD | rs35929428 | A | Associated with the development of NAFLD, play a role in hepatic lipid accumulation and fibrosis[76] | |
| GATAD2A | rs4808199 | A | Associated with NAFLD[53] | |
| TCF7L-2 | rs7903146 | T | Independently associated with NAFLD[77] | |
| TLL1 | rs17047200 | T | Higher risk of advanced fibrosis[46] | |
BMI, body mass index; ALP, alkaline phosphatase; LDL, low-density lipoprotein