Association of Tumor Necrosis Factor-Alpha (TNF-α) rs1800629 Polymorphism in Chronic Kidney Disease.

Background Chronic kidney disease (CKD) is characterized by progressive loss of kidney function. Tumor necrosis factor-alpha (TNF-α) is a cytokine implicated in inflammatory processes, including those affecting the kidneys. Although this association is not yet comprehensible, a tie-up between renal disease and markers of inflammation - interleukin-6 (IL-6), preceded by TNF-α - is eminent. However, a pause in research is evident concerning the TNF-α gene with kidney disease in the inhabitants of India. So, this study investigates the association between TNF-α rs1800629 polymorphism and CKD. Methodology A prospective case-control study was conducted in Andhra Pradesh for over three years. A total of 579 patients participated in the study. These were divided into premature, late-stage CKD, and control groups. The amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) was used, and biochemical investigations and genotyping were carried out for the study participants. Hardy-Weinberg expected frequencies (HWE) with chi-square test was used for detecting allele and genotype frequencies. The association between TNF-α (-308 G/A, rs1800629) and CKD was assessed using odds ratios (ORs) with 95% confidence intervals (CIs). Results We found a higher prevalence of CKD among males (n = 301, 52%) compared to females (n = 278, 48%). Both male and female participants diagnosed with CKD exhibited significantly elevated blood urea and serum creatinine levels compared to the control group, indicating impaired kidney function. Furthermore, these markers were generally higher in the late-stage CKD group compared to the early-stage group, suggesting a progressive decline in kidney function as the disease worsens. The homozygous genotype GG was more prevalent in late-stage CKD patients compared to both early-stage CKD patients and controls. Further, the heterozygous genotype GA was more frequent in the early-stage CKD group compared to the late-stage group. The homozygous genotype AA also showed a higher prevalence in the early-stage CKD group compared to the late-stage group. The G/G genotype and the G allele (rs1800629) were significantly associated with susceptibility to CKD (P<0.005). Conclusions Our study reported the TNF-α rs1800629 polymorphism and CKD risk in a South Indian population. G/G genotype and the G allele (rs1800629) were significantly associated with the risk of CKD. However, further research with larger sample sizes is warranted to confirm these observations and elucidate the underlying mechanisms by which TNF-α might influence CKD risk.

Association of MTHFD1 G1958A Polymorphism with Gestational Diabetes Mellitus.

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.

Association of IL1R1 gene (SNP rs2071374) with the risk of preeclampsia.

BACKGROUND: Association of IL1R1rs2071374 with the risk of preeclampsia compared with normotensive pregnant women. METHODOLOGY: The study was a case-control study with 304 pregnant women comprising of preeclampsia (n = 152) and normotensive pregnancies (n = 152). And SNP rs2071374 was genotyped by PCR-RFLP method. RESULTS: The presence of IL1R1rs2071374G allele was associated with the increased risk of preeclampsia P = 0.01741, odds ratio = 0.7006 (95% CI: 0.5023-0.9759). CONCLUSION: The results indicated that there was an association in IL1R1 rs2071374SNP with preeclampsia compared to non-preeclampsia women. It is the first study to evaluate that IL1R1 polymorphism is correlated with preeclampsia pathogenesis in the Population in India.

Association of TNFSF11 rs2200287 and TNFSF11 rs2148072 gene polymorphisms in preeclampsia.

BACKGROUND: Various cytokines released by white blood cells like lymphocytes are linked to the immune system during pregnancy. The polymorphism of the TNFSF11 (rs2200287 and rs2148072) gene is related to the preeclampsia of pregnancy. MATERIALS AND METHODS: This study was a prospective study involving 304 pregnant women with preeclampsia (n = 152) and controls (non-preeclamptic pregnant women) (n = 152). To investigate the rs2200287 and rs2148072 SNP's of TNFSF11 gene polymorphism by using the PCR-RFLP techniques. RESULTS: A significantly different genotype distribution of TNFSF11 (rs2200287 and rs2148072) polymorphisms were observed between the two groups, with the G allele of variant rs2200287 was highly significant in the preeclamptic group (P = 0.000; .5814; OR = .5814; 95% CI = .4211-.8012). And the C allele of variant rs2148072 was also highly significant in the preeclamptic group (P = 0.000; OR = .5076; 95% CI, .362-.71) in this study. CONCLUSION: The outcomes of the present study indicate that there was an association in TNFSF 11 (rs2200287 and rs2148072) gene polymorphism with preeclampsia compared to non-preeclampsia women.

Evaluation of the Association of Single Nucleotide Polymorphism rs2229238 in Interleukin 6 Receptor Alpha (IL6RA) Gene With the Risk of Preeclampsia.

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.