Table 1.
Summary of the most frequent single nucleotide polymorphisms associated with ALD progression and HCC development.
| Gene Name | Identified SNPs | Protein Functionality | ALD/HCC Association |
|---|---|---|---|
| Alcohol dehydrogenase (ADH) | ADH1B*2 (rs1229984) ADH1B*3 (rs2066702) ADH1C*1 ADH2*1 ADH2*2 (rs1229984) ADH3*2 |
Increased enzymatic activity | Associated with gastric cancers, but unknown association with ALD/HCC [74,75] |
| Aldehyde dehydrogenase (ALDH) | ALDH2*2 (rs671) | Reduced enzymatic activity | Correlation with HCC development in combination with ADH2*2 in a Japanese cohort [79] |
| Cytochrome P450 Family 2 Subfamily E Member 1 (CYP2E1) | PstI/RsaI (rs2031920/rs3813867) | Increased enzymatic activity | Association with HCC development in combination with alcohol consumption [80] |
| Methylenetetrahydrofolate reductase (MTHFR) | C677T (rs1801133) | Reduced enzymatic activity | Correlation with HCC in a population of alcohol-related cirrhotic patients [81] |
| Patatin-like phospholipase 3 domain containing 3 (PNPLA3) | I148M (rs738409) | Loss of enzymatic function | Important association with ALD progression and HCC development in alcohol-related cirrhotic patients [83], [84] |
| Transmembrane 6 superfamily member 2 (TM6SF2) | E167K (rs58542926) | Loss of expression and Function | Associated with HCC development in ALD setting in combination with I148M [83] |
| Neurocan (NCAN) | NCAN (rs2228603) | Altered functionality, unclear mechanisms | Association with HCC development in patients with ALD etiology [85] |