INVESTIGATING THE ROLE OF FCER1A GENE (RS2251746) POLYMORPHISMS AND INTERLEUKIN-6 LEVELS IN ABORTION RISK AMONG WOMEN WITH BLOOD ALLERGIES

Association of TGFA gene polymorphisms (rs11466297 and rs3732248) with polycystic ovary syndrome (PCOS): a case-control study.

OBJECTIVES Polycystic ovary syndrome (PCOS) is a complicated endocrine condition that causes ovarian dysfunction, metabolic problems, and hormonal irregularities. Genetic factors profoundly affect its pathogenesis. This study investigates the association between polymorphisms in the Transforming Growth Factor Alpha (TGFA) gene, specifically rs11466297 and rs3732248, and the risk of PCOS. METHODS We conducted a case-control study involving 200 individuals confirmed to have PCOS and 200 control subjects. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Amplification Refractory Mutation System (ARMS-PCR) procedures to genotype the TGFA SNPs rs11466297 A/C and rs3732248 G/A. We performed statistical analyses, including odds ratios (OR) and 95% confidence intervals (CI), to evaluate the relationship between the polymorphisms and the risk of PCOS. RESULTS Genotypic analysis revealed that the TGFA rs3732248 GA heterozygote was significantly associated with increased PCOS risk under the codominant model (OR = 2.16, 95% CI: 1.39-3.32, p < 0.001), dominant model (OR = 1.77, 95% CI: 1.18-2.65, p = 0.013), and overdominant model (OR = 2.26, 95% CI: 1.47-3.45, p = 0.001). All associations remained significant after Bonferroni correction (p < 0.025). For rs11466297, no significant association survived correction. PCOS patients had significantly higher BMI, waist circumference, total cholesterol, and triglycerides compared to controls (p < 0.001 for all). Haplotype analysis revealed no significant association between TGFA haplotypes and PCOS risk. CONCLUSION This study is the first to demonstrate that the TGFA rs3732248 polymorphism is significantly associated with PCOS susceptibility in an Iranian population. These findings provide novel genetic evidence supporting a role for TGFA in PCOS pathogenesis and warrant replication in larger independent cohorts.

Association of rs10741657 polymorphism in CYP2R1 gene with apparently healthy vitamin-D deficient Pakistani subjects

Objectives: To determine the association of polymorphism rs10741657 in the CYP2R1 gene with vitamin D deficiency in apparently healthy subjects. Method: The prospective, case-control study was conducted from June 2023 to January 2024 at the CREAM Lab of Army Medical College, Rawalpindi, and comprised vitamin D-deficient cases in group A and healthy controls in group B.  Genotyping of rs10741657 polymorphism in the CYP2R1 gene was performed using allele-specific polymerase chain reaction (AS-PCR). Genotypic and allelic frequencies, Hardy–Weinberg equilibrium, and genetic inheritance models were analysed using SNPStats, a web-based statistical software for genetic association studies. Results: Of the 300 subjects with a mean age of 43.56 ± 15.26 years, 150 (50%) were in group A, comprising 91 (61%) females and 59 (39%) males, with a mean age of 44.49 ± 15.12 years. There were 150 (50%) controls in group B, including 83 (55%) males and 67 (45%) females, with a mean age of 42.63 ± 15.40 years. The genotypic frequencies in group A were A/A 45(30%), A/C 101(67.34%), C/C 4(2.66%). The corresponding values in group B were 39(26%), 110(73.34%) and 1(0.66%). The allele frequency of A was 191 (64%) in vitamin D-deficient cases and 188 (63%) in healthy controls (p = 0.8775), while the C allele frequency was 109 (36%) in cases and 112 (37%) in controls (p = 0.8401). The genotype frequencies in cases were A/A 45 (30%), A/C 101 (67%), and C/C 4 (2.67%), compared to A/A 39 (26%), A/C 110 (73%), and C/C 1 (0.67%) in controls, with no statistically significant difference observed between the groups (p > 0.05). The inheritance genetic models suggested no association with vitamin D deficiency (p>0.05); codominant model – A/C odds ratio 0.70 (95% confidence interval: 0.45-1.23), C/C odds ratio 4.00 (95% confidence interval: 0.45-36.96); dominant model odds ratio 0.80 (95% confidence interval: 0.49-1.35); recessive model odds ratio 4.00 (95% confidence interval: 0.45-36.96); and overdominant model odds ratio 0.70 (95% confidence interval: 0.45-1.23). Conclusion: The A allele was found to be the most common variant of rs10741657 in both the groups. The rs10741657 polymorphism was not a risk for the susceptibility to vitamin D deficiency. No correlation of genotype with serum vitamin D levels was noted. Key Words: Allele-specific polymerase chain reaction, Single nucleotide polymorphism, Calcitriol, 25 Hydroxylase, Vitamin D binding protein.

Association Of VDR (Apai Rs7975232) Polymorphism And Some Biochemical Parameters With Psoriasis In Iraqi Patients

Background: Psoriasis is an inflammatory skin disease caused by genetic and environmental factors. Although data on Iraqi patients are poor, there may be a relation between the vitamin D receptor (VDR) gene and susceptibility to psoriasis. Objective: This study aims to analyze the association between the VDR ApaI (rs7975232) gene polymorphism and the tendency toward psoriasis in Iraqi patients and to evaluate serum levels of vitamin D3, ferritin, and zinc. Method: A case-control study was conducted on 45 patients with psoriasis and 35 age- and sex-matched control group. Genotyping of the Vitamin D receptor rs7975232 polymorphism was done by high-resolution melting (HRM) analysis. Automated analyzers tested serum vitamin D3, ferritin, and zinc levels. Statistical analyses were performed using GraphPad Prism software.  Results: The allele frequency was considerably higher in patients (40.0%) than in the control group (24.3%), which conferred an elevated risk of psoriasis (OR = 2.07, 95% CI: 1.01–4.24, p = 0.046). AA carriers showed the lowest mean vitamin D3 level (15.0 ± 3.7 ng/mL, p = 0.0043) and highest mean ferritin level (223.6 ± 67.2 ng/mL, p = 0.0136). Levels of vitamin D3 and zinc were considerably lower in patients than in the control group (p<0.001 for both), and the highest mean ferritin level (p<0.001). Conclusions: The A allele of the VDR rs7975232 polymorphism was associated with increased susceptibility to psoriasis in Iraqi patients. AA carriers showed the lowest mean vitamin D3 and zinc levels and the highest mean ferritin level; however, genotype-related differences in these biochemical parameters were not statistically significant within the patient group.

phosphatidylinositol-Interleukin 7 receptor gene polymorphisms and haplotypes are associated with susceptibility to IgA nephropathy in Korean children

Potential impact of two functional variants in the VEGF gene on the risk and clinical characteristics of granulomatosis with polyangiitis: A case-control study

Background: Granulomatosis with polyangiitis (GPA) is an autoimmune disorder that results from an interplay of genetic factors and environmental influences. We investigated the association between two polymorphisms in the VEGF gene, specifically rs2010963 and rs833061, and the likelihood of developing GPA. Methods: A case-control study involving 224 participants was conducted, comprising 104 individuals diagnosed with GPA and 120 control subjects. The high-resolution melting (HRM) technique was employed for genotyping these polymorphisms. Results: The findings revealed a significant difference in the distribution of the CC genotype and C allele for rs2010963 between the control and case groups (CC vs GG; OR: 2.687; 95% CI [1.185-6.264], P: 0.014; C vs G; OR: 1.628; 95% CI [1.097-2.421], P: 0.012). Moreover, patients with the GC + CC genotype exhibited elevated mean levels of creatinine, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP), as well as a higher incidence of alveolar hemorrhage compared to those with the GG genotype. Concerning rs833061, no association with GPA risk was identified; however, correlations were noted with certain laboratory and clinical parameters, including PR3-ANCA levels, septal perforation, alveolar hemorrhage, renal involvement, and rapidly progressive glomerulonephritis (RPGN). Conclusion: The C allele of rs2010963 is linked to an increased risk of developing GPA and certain laboratory and clinical parameters, while the rs833061 polymorphism does not appear to be associated with GPA risk but is correlated with various laboratory and clinical indices.

Exploring the Association of TMPRSS6 rs1421312 Variant with Hepcidin, sTfR1, and Iron Deficiency Anemia in Reproductive-Age Women

It is concluded that no detectable association was found between the TMPRSS6 rs1421312 SNP and IDA, and no detectable associations were found with Hepcidin levels, sTfR1, or the sTfR1-Ferritin Index.