PNPLA3 |
rs738409 |
444C>G |
I148M |
Increased hepatocyte triglyceride content |
rs6006460 |
1531G>T |
S453I |
Lower-than-average hepatic triglyceride accumulation |
TM6SF2 |
rs58542926 |
499A>G |
E167K |
Elevated AST/ALT, increased hepatic triglyceride levels, decreased serum cholesterol |
rs10401969 |
613+80A>G |
Intron |
Lower hepatic TM6SF2 mRNA levels correlate with larger hepatocellular lipid droplets |
LIPA |
rs116928232 |
894G>A |
E8SJM |
Cholesterol ester storage disease often resulting in fibrosis→cirrhosis |
IFNλ4 |
rs12979860 |
151-152G>A |
Intron |
Increased degree of hepatic inflammation and fibrosis |
HFE |
rs1800562 |
845G>A |
C282Y |
Increased hepatic iron uptake, associated with greater NAFLD risk/severity |
rs1799945 |
187C>G |
H63D |
Increased hepatic iron uptake, associated with greater NAFLD risk/severity |
HMOX1 |
rs2071746 |
-413A>T |
Affects promoter |
Higher HMOX1 activity correlated with less frequent and less severe NAFLD |
FTO |
rs1421085 |
46-43098T>C |
Affects repressor |
Adipocytic phenotype shift from beige (energy-dissipating) to white (energy-storing) |
GNPAT |
rs11558492 |
1556A>G |
D519G |
Worsened iron overload in patients with HFE |