Bunga Papa Kusuma, Balaga Vijaya Sirisha, Raju Riya, Suvvari Tarun Kumar, Sivaraj Nagarjuna, Narayan Gaurang, Ramadugu Rithika, Arigapudi Nithya, Kande Mahesh Babu, Panchanani Arun
Research and Development, Great Eastern Medical School & Hospital, Srikakulam, IND.
Obstetrics and Gynaecology, Great Eastern Medical School & Hospital, Srikakulam, IND.
Cureus. 2024 Jan 31;16(1):e53287. doi: 10.7759/cureus.53287. eCollection 2024 Jan.
Background The MTHFD1 G1958A polymorphism is a common variation in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme crucial for folate metabolism. This study investigated the association between the MTHFD1 G1958A polymorphism, which is involved in folate metabolism, and gestational diabetes mellitus (GDM) risk. Methods A case-control study was conducted and 304 pregnant women (152 with gestational diabetes as cases and 152 healthy pregnant as controls) participated in the study. The polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) techniques were used to determine the MTHFD1 1958G>A polymorphism genotypes. Results Analysis of genotype frequencies revealed a statistically significant difference (p-value < 0.05) between the GDM group and the control group, suggesting a potential association between this gene variant and the development of GDM. Interestingly, while allele frequencies alone did not show a significant association with GDM risk, analysis in a recessive model (both severe and mild forms) demonstrated a strong link between the homozygous AA genotype and increased susceptibility to GDM. Conclusion This study provides the first evidence linking the MTHFD1 G1958A polymorphism and GDM risk in an Indian setting. These findings warrant further investigation into the functional impact of the MTHFD1 G1958A polymorphism and its potential role in the pathogenesis of GDM.
亚甲基四氢叶酸脱氢酶1（MTHFD1）基因的G1958A多态性是编码亚甲基四氢叶酸脱氢酶1（MTHFD1）的基因中的常见变异，MTHFD1是一种对叶酸代谢至关重要的酶。本研究调查了参与叶酸代谢的MTHFD1 G1958A多态性与妊娠期糖尿病（GDM）风险之间的关联。方法：进行了一项病例对照研究，304名孕妇（152例患有妊娠期糖尿病作为病例组，152例健康孕妇作为对照组）参与了该研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术来确定MTHFD1 1958G>A多态性基因型。结果：基因型频率分析显示，GDM组与对照组之间存在统计学显著差异（p值<0.05），表明该基因变异与GDM的发生之间可能存在关联。有趣的是，虽然单独的等位基因频率与GDM风险没有显著关联，但在隐性模型（包括重度和轻度形式）中的分析表明，纯合AA基因型与GDM易感性增加之间存在紧密联系。结论：本研究提供了在印度人群中，MTHFD1 G1958A多态性与GDM风险之间存在关联的首个证据。这些发现值得进一步研究MTHFD1 G1958A多态性的功能影响及其在GDM发病机制中的潜在作用。
