Table 2.
Summary of NAFLD HCC polymorphisms
| SNP | Clinical significance | Location (human chromosome) | Associated gene | Role of the gene | Ref. |
|---|---|---|---|---|---|
| rs738409 C>G | Associated with increased liver fat accumulation and a higher risk for developing liver cirrhosis. Given the increased severity of necroinflammation in GG sequence carriers, these individuals may be at higher risk for developing HCC | chr22:43928847 (GRCh38.p12) | PNPLA3; Patatin-like phospholipase domain-containing protein 3 | ThePNPLA3 gene encodes the protein Adiponutrin, which is thought to help regulate the development of adipocytes as well as lipogenesis and lipolysis in the liver | Sookoian et al.[44] Shen et al.[139] |
| rs58542926 C>T | Associated with an increased risk of developing diabetes and NAFLD. The polymorphism results in a loss of function and individuals with the CT phenotype have a reduced hepatic capability to secrete LDLs and are at higher risk for developing liver inflammation and potentially HCC | chr19:19268740 (GRCh38.p12) | TM6SF2; Transmembrane 6 Superfamily Member 2 | The TM6SF2 gene is involved in regulating liver fat metabolism, lipoprotein secretion and hepatic lipid droplet content | Kozlitina et al.[46] Falleti et al.[47] Vespasiani-Gentilucci et al.[140] |
| rs641738 C>T | Associated with an increased risk of hepatic fat accumulation, fibrosis, and potentially HCC | chr19:54173068 (GRCh38.p12) | MBOAT7; Membrane Bound O-Acyltransferase Domain Containing? | The MBOAT7 gene encodes a protein known as Lysophospholipid acyltransferase 7 that is involved in the re-acylation of phospholipids as part of the phospholipid remodeling pathway | Mancina et al.[48] Luukkonen et al.[49] Donati et al.[50] |
NAFLD: nonalcoholic fatty liver disease; HCC: hepatocellular carcinoma; LDLs: low density lipoproteins