ABSTRACT
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.
ABSTRACT
Introduction Many studies have gone into single nucleotide polymorphisms (SNPs) in inflammatory-associated genes and preeclampsia risk; still, the findings are inconclusive. The current study aims to evaluate the association of SNP rs2229238 in the interleukin 6 receptor alpha (IL6RA) gene with the risk of preeclampsia. Methodology An observational case-control study was conducted and 216 patients were included in this study. Of the patients, 104 were normotensive subjects and 112 were subjects with preeclampsia. Genotyping for SNP rs2229238 was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results The genotype allocation of the SNP 2229238 C/A polymorphism was not different in preeclampsia subjects (CC: 42%; CA: 42%; AA: 16%) and normotensive pregnant women (CC: 37%; CA: 48%; AA: 15%) (p-value = 0.73). The frequency of the A allele was 34% in preeclampsia subjects and 31% in normotensive pregnancies. There was no significant variation seen in the allele frequencies among cases and the control population. Conclusion Our study reported that there is no significant relation between preeclampsia and IL6RA SNP rs2229238. Also, there is no significance in the allele frequencies among both cases and control groups.
