Faculty of Sciences of Bizerte, University of Carthage, Bizerte, Tunisia.
Service of Embryo-Fetopathology, Center for Maternity and Neonatology of Tunis, Tunis El Manar University, Tunis, Tunisia.
Birth Defects Res. 2024 May;116(5):e2333. doi: 10.1002/bdr2.2333.
This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors.
Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal-Wallis nonparametric test.
In MTHFR gene C677T polymorphism, cases with (CT + TT) genotype had lower monounsaturated FAs (MUFA) and omega-3 polyunsaturated FA (n-3 PUFA) levels, but higher omega-6 polyunsaturated FAs (n-6 PUFA) and omega-6 polyunsaturated FAs: omega-3 polyunsaturated FAs (n-6:n-3) ratio levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype had lower MUFA levels, but higher PUFA and n-6 PUFA levels. Controls with (AG + GG) genotype had lower n-6 PUFA levels. In MTHFR gene C677T polymorphism, cases with smoking spouses and (CT + TT) genotype had lower MUFA and n-3 PUFA levels, but higher PUFA, n-6 PUFA, and n-6:n-3 ratio levels. Cases with (CT + TT) genotype and who used sauna during pregnancy had lower n-3 PUFA levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype and who used sauna during pregnancy had higher PUFA and n-6 PUFA levels.
Further research is required to clarify the association of FA metabolism and (MTHFR, MTRR) polymorphisms with NTDs.
本研究旨在确定 5,10-亚甲基四氢叶酸还原酶（MTHFR C677T 和 A1298C）和蛋氨酸合成酶还原酶（MTRR A66G）基因多态性是否与神经管缺陷（NTD）胎儿母亲的脂肪酸（FA）水平有关，以及这些关联是否受环境因素的影响。
使用毛细管气相色谱法评估血浆 FA 组成。通过 Kruskal-Wallis 非参数检验，比较 42 例 NTD 胎儿母亲和 30 例对照者中每种多态性的研究 FA 浓度。
在 MTHFR 基因 C677T 多态性中，具有（CT + TT）基因型的病例具有较低的单不饱和脂肪酸（MUFA）和 ω-3 多不饱和脂肪酸（n-3 PUFA）水平，但具有较高的 ω-6 多不饱和脂肪酸（n-6 PUFA）和 ω-6 多不饱和脂肪酸：ω-3 多不饱和脂肪酸（n-6：n-3）比值水平。在 MTRR 基因 A66G 多态性中，具有（AG + GG）基因型的病例具有较低的 MUFA 水平，但具有较高的 PUFA 和 n-6 PUFA 水平。具有（AG + GG）基因型的对照者具有较低的 n-6 PUFA 水平。在 MTHFR 基因 C677T 多态性中，具有吸烟配偶和（CT + TT）基因型的病例具有较低的 MUFA 和 n-3 PUFA 水平，但具有较高的 PUFA、n-6 PUFA 和 n-6：n-3 比值水平。具有（CT + TT）基因型并在怀孕期间使用桑拿浴的病例具有较低的 n-3 PUFA 水平。在 MTRR 基因 A66G 多态性中，在怀孕期间使用桑拿浴的具有（AG + GG）基因型的病例具有较高的 PUFA 和 n-6 PUFA 水平。
需要进一步研究来阐明 FA 代谢和（MTHFR、MTRR）多态性与 NTD 之间的关联。
