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

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-tr...

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Veröffentlicht in:	Scientific reports 2021-12, Vol.11 (1), p.24407-24407, Article 24407
Hauptverfasser:	Janik, Maciej K., Smyk, Wiktor, Kruk, Beata, Szczepankiewicz, Benedykt, Górnicka, Barbara, Lebiedzińska-Arciszewska, Magdalena, Potes, Yaiza, Simões, Inês C. M., Weber, Susanne N., Lammert, Frank, Więckowski, Mariusz R., Milkiewicz, Piotr, Krawczyk, Marcin
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208 692/4020/4021 Adolescent Adult Aged Antioxidants Antioxidants - metabolism Catalase Child Fatty liver Female Gene polymorphism Genetic diversity Genetic Predisposition to Disease - genetics Genetic variance Genome-Wide Association Study Genotype Genotyping Hepatitis Hepatitis, Autoimmune - complications Hepatitis, Autoimmune - genetics Hepatitis, Autoimmune - metabolism Hepatitis, Autoimmune - prevention & control Humanities and Social Sciences Humans Liver cancer Liver Cirrhosis - etiology Liver Cirrhosis - genetics Liver Cirrhosis - metabolism Liver Cirrhosis - prevention & control Male Middle Aged Mitochondria Mitochondrial Proteins - genetics multidisciplinary Oxidoreductases - genetics Patients Phenotype Phenotypes Polymorphism, Genetic - genetics Polymorphism, Genetic - physiology Science Science (multidisciplinary) Transplantation Young Adult
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Zusammenfassung:	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
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-021-03521-3