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

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1934-1940
JournalLiver International
Issue number8
Publication statusPublished - 2020


  • fatty liver disease
  • fibrosis
  • NASH
  • steatosis

ASJC Scopus subject areas

  • Hepatology


Dive into the research topics of 'Genetic variants in the MTHFR are not associated with fatty liver disease'. Together they form a unique fingerprint.

Cite this