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. Author manuscript; available in PMC: 2020 Jul 17.
Published in final edited form as: Hepatoma Res. 2020 Jun 18;6:35. doi: 10.20517/2394-5079.2020.16

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