Table 1.
Representative genetic variations associated with NAFLD.
| Gene | Function | Variant | Phenotype of Genetic Variant | Reference |
|---|---|---|---|---|
| PNPLA3 | TG lipase | rs738409 C > G (I148M) | Increased hepatic fat content, high risk of hepatic steatosis, fibrosis, and HCC | [11,12,13] |
| TM6SF2 | Involved in very low-density lipoprotein (VLDL) secretion and hepatic TG metabolism | rs58542926 C > T (E167K) | Elevated hepatic TG, serum ALT, and AST levels | [14,15] |
| rs10401969 C > T (intron) | Low hepatic TM6SF2 mRNA levels correlated with larger hepatocellular lipid droplets | [16] | ||
| GCKR | Regulator of glucokinase | rs1260326 T>C/T>G (P446L) | Increased hepatic TG and LDL-cholesterol levels, correlated with the severity of NASH | [17] |
| rs780094 C > T | Increased hepatic TG levels, high risk of liver fibrosis | [18,19] | ||
| MBOAT7 | Reacylation of phospholipid | rs641738 C > T | Increased hepatic TG levels and severity of NAFLD, high risk of HCC | [20,21,22,23] |
| HMOX1 | Protects the liver against oxidative stress | rs2071746 A > T (promoter) | Increased serum ALT levels in pediatric NAFLD patients | [24,25,26] |