Topic Highlight
Copyright ©The Author(s) 2015.
World J Gastroenterol. Nov 7, 2015; 21(41): 11552-11566
Published online Nov 7, 2015. doi: 10.3748/wjg.v21.i41.11552
Table 1 Genetic polymorphisms associated with alcohol dependence, alcohol abuse and liver disease
GeneRisk alleleAssociationPopulationRef.
Alcohol-metabolizing enzymes
CYP2E1CYP2E1*c2Higher susceptibility to LC; decompensated liver functionMexican (Mestizo), West Mexico[110]
ADH1BADH1B*2Higher risk to LCJapanese[111]
ADH1BADH1B*1Alcohol dependenceEuropean, Asian[112-114]
ALDH2ALDH2*1Higher susceptibility to LCJapanese[111]
Alcohol dependence genes
DRD2Taq I A1Alcohol dependenceEuropean, East Asian[115]
TAS2R38AVV haplotypeHigher alcohol intakeMexican, (Mestizo), West Mexico[39]
Lipid metabolism
APOEAPOE*2Hypertriglyceridemia and increased development of early LCMexican (Mestizo), West Mexico[36]
FABP2Ala54Earlier onset of LCMexican (Mestizo), West Mexico[116]
PNPLA3M148Alcoholic liver disease and clinically evident LCMixed European and Native American, Mexico City[117,118]
PPAR-γ2Ala12Increased risk to develop severe steatohepatitis and fibrosisGerman[119]
Immune response
TNF-α-238 AHigher prevalence of LCSpanish[120]
NF-ΚBATTG deletionHigher prevalence of LCSpanish[121]
CXCL1rs4074 AHigher prevalence of LCGerman[122]
CD14-159 TAdvanced liver disease, hepatitis and especially with LCFinnish[123,124]
Table 2 Genetic polymorphisms associated with the outcomes of hepatitis C virus infection
GeneRisk alleleAssociationPopulationRef.
Lipid metabolism
APOB-516 CIncreased susceptibility of HCV infectionChinese[125]
APOEAPOE*3Viral persistenceNorthern European[126]
LDLrrs2738459 C, rs2569540 G, rs1433099 A, rs11672123 AHigher viral load in genotypes 1 and 4Spanish[127]
MTTP-493 THigher degree of steatosis, HCV RNA serum levels and hepatic fibrosisNative Italian[128,129]
PNPLA3M148Higher risk for steatosis and fibrosis progressionEuropean: Belgian, German and French[130]
Inmune response mediators
CXCL1rs4074 AHigher risk for LCGerman[131]
IL-28Brs12979860 THigher risk for LC and HCCNative Italian and Chinese[132,133]
TGF-β1-509 THigher risk for LC and HCCEgyptian[134]
TNF-α-308 AHigher risk for LC and HCCEgyptian[134]
MMP-1-1607 2GHigher prevalence of LCJapanese[135]
MMP-3-1171 5ALower age at LC diagnosis and a higher Child-Pugh scoreJapanese[135]
MMP-9-1562 CHigher prevalence of LCJapanese[135]
Nutrient metabolism
MTHFR677 THyperhomocysteinemia and higher degree of steatosis and fibrosisItalian[136]
HFE63 DHigher likelihood of LCTaiwanese[137]
VDRCAA haplotype (rs1544410 C, rs7975232 A, rs731236 A)Higher fibrosis progression and LCSwiss[138]
Table 3 Genetic polymorphisms associated with the outcomes of hepatitis B virus infection
GeneRisk alleleAssociationPopulationRef.
Immune response mediators
IL-10-592 CSignificant increased risk of LCAsian[139]
IL-28Brs12979860 CIncreased risk for developing LCAsian[140]
TGF-β110 THigher prevalence of LCChinese[141]
TGF-β1-509 CHigher susceptibility to LCChinese[142]
COL1A1TC haplotype (-1997 T, -1363 C)Higher prevalence of LCChinese[143]
COL3A1rs3106796 AHigher prevalence of chronic hepatitis, LC and HCCKoreans[144]
Table 4 Genetic polymorphisms associated with the development of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis
GeneRisk alleleAssociationPopulationRef.
Lipid metabolism
APOC3482 T, 455 CHigher fasting plasma triglyceride concentration and higher prevalence of NAFLDAsian Indian[145]
PNPLA3M148Increased hepatic fat levels, hepatic inflammation and fibrosis in NAFLD and NASH patientsHispanic, African American, European American, Finnish, Argentinean, Italian[146-150]
MTTP-493 GHigher intrahepatic triglycerides content. Higher incidence and progression of NASHFrench, Japanese[151,152]
PEMTM175Higher prevalence of NAFLD and NASHHispanic, African American, European American, Asian[153,154]
Insulin resistance/sensitivity
ADIPOQ45 T, 276 THigher prevalence of NAFLD. Lower postprandial adiponectin and higher postprandial triglyceride, VLDL, and FFA in NASH patientsItalian[155]
45 G, 276 GHigher prevalence of NAFLD, severe fibrosis and insulin resistance in femalesJapanese[156]
ADIPOR1-8503 A, -1927 CLower insulin sensitivity and higher liver fatGerman[157]
ADIPOR2rs767870 TIncreased hepatic fat and biochemical surrogates of NAFLDFinnish[158]
PPAR-γ161 THigher susceptibility of NAFLDChinese[159]
PPARGC1Ars2290602 THigher occurrence of NAFLDJapanese[160]
PPAR-αVal227Higher prevalence of NAFLD and anthropometrical indicators of obesityChinese[161]
Oxidative stress
GCLC-129 THigher prevalence of NASHBrazilian[162]
NOS2rs1060822 THigher fibrosis index in NAFLD patientsJapanese[163]
SOD21183 THigher prevalence of NASHJapanese[152]
Immune response mediators
STAT3rs6503695 T, rs9891119 AHigher prevalence of NAFLDArgentinean[164]
TNF-α-238 AHigher prevalence of NAFLD and NASHItalian, Chinese[165,166]
IL-8-251 ADisease progression in NASHTurkish[167]
IL-6-174 CHigher risk for NAFLD and NASHItalian[168]
MTHFR1298 C, 677 CHigher prevalence of NASHTurkish[169]
HFE282 YMore hepatic fibrosis in NASH patients. Higher prevalence of NAFLDAustralian[170-172]
ABCC2/MRP2rs17222723 T, rs8187710 ANAFLD disease severityArgentinean[173]
AGTR1rs3772633 G, rs3772627 C, rs3772622 AHigher prevalence of NASHJapanese[174]