Background

The folate metabolism that converts homocysteine to methionine is closely related to the accumulation of homocysteine. Increased homocysteine levels lead to an impaired antithrombotic function of the vascular endothelium and uterine-placental circulation, resulting in abnormal pregnancy outcomes. Previous studies have reported that gene polymorphisms in folate metabolism are associated with the development of preterm birth (PTB) in various populations.

Objective

we performed a case–control study to evaluate the association between five polymorphisms in folate metabolic genes (MTHFR, MTR, MTRR, TCN2) and PTB.

Methods

In this study, a total of 254 subjects were analyzed (111 patients with PTB and 143 women at ≥ 38 weeks of gestation). Genotype and allele frequency differences between patients and control groups and the Hardy–Weinberg equilibrium were assessed using a Chi-square test. For evaluation indicators, odds ratios (ORs) of 95% confidence intervals (CI) were estimated. In addition, we analyzed the combined genotype frequencies of SNPs of folate-metabolizing genes to measure gene–gene interactions for PTB.

Results

Our results showed that the MTR rs1805087 GG (p = 0.031), and TCN2 rs1801198 CG genotype (OR 0.53, 95% CI 0.288–0.980, p = 0.042) were significantly associated with PTB. The MTHFR rs4846049 AA showed a marginal trend toward significance (OR 0.15, 95% CI 0.018–1.205, p = 0.041). In particular, the combined genotypes, including MTHFR rs1537514 CC—MTRR rs1801394 GG, MTHFR rs1537514 CC—TCN2 rs1801198 CG, and MTR rs1805087 AA—TCN2 rs1801198 CG, have significant interactions with PTB (OR 0.49, 95% CI 0.248–0.992, p < 0.05).

Conclusion

The polymorphisms of folate metabolic genes may have a genetic association with the development of PTB in Korean women. A larger sample set and functional studies are required to further elucidate our findings.

中文翻译：

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韩国女性叶酸代谢基因多态性和早产遗传易感性

背景

将同型半胱氨酸转化为蛋氨酸的叶酸代谢与同型半胱氨酸的积累密切相关。同型半胱氨酸水平升高会导致血管内皮和子宫胎盘循环的抗血栓形成功能受损，从而导致妊娠结局异常。先前的研究报道，叶酸代谢中的基因多态性与不同人群中早产（PTB）的发展有关。

客观的

我们进行了一项病例对照研究，以评估叶酸代谢基因（ MTHFR、MTR、MTRR、TCN2 ）中的五种多态性与 PTB 之间的关联。

方法

在这项研究中，共分析了 254 名受试者（111 名 PTB 患者和 143 名妊娠 ≥ 38 周的女性）。使用卡方检验评估患者和对照组之间的基因型和等位基因频率差异以及 Hardy-Weinberg 平衡。对于评估指标，估计了 95% 置信区间 (CI) 的优势比 (OR)。此外，我们分析了叶酸代谢基因 SNP 的组合基因型频率，以测量 PTB 的基因-基因相互作用。

结果

我们的结果表明，MTR rs1805087 GG ( p  = 0.031) 和TCN2 rs1801198 CG 基因型 (OR 0.53, 95% CI 0.288–0.980, p  = 0.042) 与 PTB 显着相关。MTHFR rs4846049 AA 显示出显着性的边缘趋势（OR 0.15, 95% CI 0.018–1.205, p  = 0.041）。特别是，组合基因型，包括MTHFR rs1537514 CC- MTRR rs1801394 GG、MTHFR rs1537514 CC - TCN2 rs1801198 CG 和MTR rs1805087 AA - TCN2 rs1801198 CG，与 PTB 具有显着的相互作用（OR 0.49, 95% CI 0.248-0 < 0.05)。

结论

叶酸代谢基因的多态性可能与韩国女性 PTB 的发生有遗传关联。需要更大的样本集和功能研究来进一步阐明我们的发现。