MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis

• DOI: 10.1038/s41598-021-03521-3
• Publication Date: 2021-12-23T11:03:57Z
• Authors: Maciej K. Janik; Wiktor Smyk; Beata Kruk; Benedykt Szczepan...; Barbara Górnicka; Magdalena Lebiedz...; Yaiza Potes; Inês C. M. Simões; Susanne N. Weber; Frank Lammert; Mariusz R. Więcko...; Piotr Milkiewicz; Marcin Krawczyk
• Keywords: Autoimmune Hepatitis

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