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.

中文翻译：

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MTHFR 的遗传变异与脂肪肝疾病无关。

亚甲基四氢叶酸还原酶 ( MTHFR ) 的常见错义序列变体)、rs1801131 (c.A1298C) 和 rs1801133 (c.C677T)，有利于高同型半胱氨酸血症的发展和 DNA 甲基化减少。以前的研究以小系列进行，对肝脏表型的表征并不理想，测试了这些遗传变异与脂肪肝疾病 (FLD) 的关联，但结果相互矛盾。在这里，我们在肝脏活检横断面队列中评估了 rs1801131 和 rs1801133 与肝脏表型的关联，这是一个大型队列（来自意大利的 1375 名和来自芬兰的 411 名）疑似 FLD 与代谢障碍相关的欧洲个体。通过序数回归分析对总共 1786 名受试者进行了分析。rs1801131 和 rs1801133 变体与脂肪变性、炎症、气球样变或纤维化无关。