Genetic variants in the MTHFR are not associated with fatty liver disease.

6533b7dafe1ef96bd126d8d3

RESEARCH PRODUCT

Genetic variants in the MTHFR are not associated with fatty liver disease.

Ville Männistö Anna Ludovica Fracanzani Paola Dongiovanni Stefano Romeo Stefano Romeo Stefano Romeo Salvatore Petta Umberto Vespasiani-gentilucci Jussi Pihlajamäki Antonio De Vincentis Federica Tavaglione Federica Tavaglione Luca Valenti Luca Valenti Rosellina Margherita Mancina

subject

medicine.medical_specialty Hyperhomocysteinemia Genotype Gastroenterology Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine NAFLD Internal medicine steatosis Medicine Missense mutation Humans Genetic Predisposition to Disease Finland Methylenetetrahydrofolate Reductase (NADPH2)Hepatology medicine.diagnostic_test biology business.industry Fatty liver NASH medicine.disease Fatty Liver Cross-Sectional Studies Italy 030220 oncology & carcinogenesis Liver biopsy Methylenetetrahydrofolate reductase Case-Control Studies MTHFR DNA methylation Cohort biology.protein fatty liver disease 030211 gastroenterology & hepatology Steatosis fibrosi business

description

The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 subjects were analysed by ordinal regression analyses. The rs1801131 and the rs1801133 variants were not associated with steatosis, inflammation, ballooning or fibrosis. The present study suggests that changes in folate and methionine metabolism resulting from these 2 variants are not associated with a clinically significant impact on FLD in Europeans.

year	journal	country	edition	language
2020-02-27	Liver international : official journal of the International Association for the Study of the LiverREFERENCES

10.1111/liv.14543 https://pubmed.ncbi.nlm.nih.gov/32460399