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

Antonio De Vincentis1, Rosellina Margherita Mancina2, Jussi Pihlajamäki3,4

  • 1Department of Internal Medicine and Geriatrics, University Campus Bio-Medico of Rome, Rome, Italy.

Liver International : Official Journal of the International Association for the Study of the Liver
|May 28, 2020
PubMed

Insights

Common MTHFR gene variants (rs1801131 and rs1801133) do not appear to influence fatty liver disease (FLD) development or severity in European adults. This study found no association with steatosis, inflammation, or fibrosis in a large cohort.

Area of Science:

  • Genetics
  • Hepatology
  • Nutritional Biochemistry

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) gene variants (rs1801131 and rs1801133) are linked to hyperhomocysteinemia and altered DNA methylation.
  • Previous research on the association between these MTHFR variants and fatty liver disease (FLD) has yielded conflicting results, often due to small sample sizes and limited hepatic phenotype characterization.

Purpose of the Study:

  • To investigate the association between MTHFR variants rs1801131 and rs1801133 and the hepatic phenotype in a large cohort of European individuals with suspected FLD.
  • To clarify the role of folate and methionine metabolism alterations, influenced by these MTHFR variants, in the pathogenesis of FLD.

Main Methods:

  • Analysis of 1786 European individuals from the Liver Biopsy Cross-Sectional Cohort (Italy and Finland) with suspected FLD associated with dysmetabolism.
  • Utilized ordinal regression analyses to assess the association between MTHFR variants (rs1801131 and rs1801133) and key hepatic parameters.

Main Results:

  • No statistically significant association was found between the rs1801131 and rs1801133 MTHFR variants and the presence of steatosis, inflammation, ballooning, or fibrosis in the liver.
  • The study indicates that genetic variations in MTHFR do not significantly impact liver histology in individuals with FLD.

Conclusions:

  • The common MTHFR variants rs1801131 and rs1801133 are not associated with clinically significant hepatic phenotypes in European individuals with FLD.
  • Alterations in folate and methionine metabolism due to these MTHFR variants do not appear to be a major contributing factor to FLD development or progression in this population.
Keywords:
MTHFRNAFLDNASHfatty liver diseasefibrosissteatosis

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