Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-05-08 DOI:10.1002/bdr2.2333

Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi, Moncef Feki, Raja Marrakchi

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Abstract

Objective

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.

Methods

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.

Results

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.

Conclusions

Further research is required to clarify the association of FA metabolism and (MTHFR, MTRR) polymorphisms with NTDs.

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MTHFR（C677T、A1298C）和 MTRR A66G 多态性与脂肪酸谱和神经管畸形风险的关系。

研究目的本研究旨在确定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）胎儿母亲体内的脂肪酸（FA）水平有关，以及这些关联是否会因环境因素而改变：方法：使用毛细管气相色谱法评估血浆中的脂肪酸组成。通过 Kruskal-Wallis 非参数检验，比较了 42 位 NTD 胎儿母亲和 30 位对照组之间所研究的 FA 浓度与每种多态性的关系：结果：在MTHFR基因C677T多态性中，基因型为（CT + TT）的病例的单不饱和脂肪酸（MUFA）和ω-3多不饱和脂肪酸（n-3 PUFA）水平较低，但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）比率水平较高。在 MTRR 基因 A66G 多态性中，基因型为（AG + GG）的病例的 MUFA 含量较低，但 PUFA 和 n-6 PUFA 含量较高。基因型为（AG + GG）的对照组 n-6 PUFA 含量较低。在 MTHFR 基因 C677T 多态性方面，配偶吸烟且基因型为（CT + TT）的病例的 MUFA 和 n-3 PUFA 水平较低，但 PUFA、n-6 PUFA 和 n-6:n-3 比率水平较高。基因型为（CT + TT）且在孕期使用桑拿浴的病例的 n-3 PUFA 水平较低。在 MTRR 基因 A66G 多态性中，基因型为（AG + GG）且在孕期使用桑拿浴的病例的 PUFA 和 n-6 PUFA 水平较高：需要进一步研究以明确脂肪酸代谢和（MTHFR、MTRR）多态性与 NTD 的关系。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.