TY - JOUR
T1 - Genetic variants in the MTHFR are not associated with fatty liver disease
AU - De Vincentis, Antonio
AU - Mancina, Rosellina Margherita
AU - Pihlajamäki, Jussi
AU - Männistö, Ville
AU - Petta, Salvatore
AU - Dongiovanni, Paola
AU - Fracanzani, Anna Ludovica
AU - Valenti, Luca
AU - Tavaglione, Federica
AU - Romeo, Stefano
AU - Vespasiani-Gentilucci, Umberto
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - fatty liver disease
KW - fibrosis
KW - MTHFR
KW - NAFLD
KW - NASH
KW - steatosis
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U2 - 10.1111/liv.14543
DO - 10.1111/liv.14543
M3 - Article
C2 - 32460399
AN - SCOPUS:85086249399
VL - 40
SP - 1934
EP - 1940
JO - Liver International
JF - Liver International
SN - 1478-3223
IS - 8
ER -