摘要：The clinical picture of autoimmune hepatitis (AIH) varies markedly between patients, potentially due to genetic modifiers. The aim of this study was to evaluate genetic variants previously associated with fatty liver as potential modulators of the AIH phenotype. The study cohort comprised 313 non-transplanted adults with AIH. In all patients, the
MARC1 (rs2642438),
HSD17B13 (rs72613567),
PNPLA3 (rs738409),
TM6SF2 (rs58542926), and
MBOAT7 (rs641738) variants were genotyped using TaqMan assays. Mitochondrial damage markers in serum were analyzed in relation to the
MARC1 variant. Carriers of the protective
MARC1 allele had lower ALT and AST (both P < 0.05). In patients treated for AIH for ≥ 6 months,
MARC1 correlated with reduced AST, ALP, GGT (all P ≤ 0.01), and lower APRI (P = 0.02). Patients carrying the protective
MARC1 genotype had higher total antioxidant activity (P < 0.01) and catalase levels (P = 0.02) in serum. The
PNPLA3 risk variant was associated with higher MELD (P = 0.02) in treated patients, whereas
MBOAT7 increased the odds for liver cancer (OR = 3.71). None of the variants modulated the risk of death or transplantation. In conclusion, the
MARC1 polymorphism has protective effects in AIH. Genotyping of
MARC1,
PNPLA3, and
MBOAT7 polymorphisms might help to stratify patients with AIH.
