OLR1 rs11053646 SNP does not appear to be associated with T2D risk in Saudi adults, and small sample size may have limited statistical power to detect potential associations.
Abstract
INTRODUCTION
Genetic polymorphisms affecting oxidative stress and lipid metabolism contribute to type 2 diabetes (T2D). The role of oxidized low-density lipoprotein receptor 1 (OLR1) rs11053646 single nucleotide polymorphism (SNP) in the Saudi population remains unclear. This study aimed to assess its association with T2D risk in Saudi adults.
Methods
A tertiary hospital-based case-control study was conducted among 143 Saudi adults (≥18 years) in Riyadh from November 2019 to January 2020, including 79 individuals with T2D (fasting blood glucose ≥7 mmol/L) and 64 normoglycemic controls (<5.6 mmol/L). Genomic DNA was extracted from peripheral blood, and the OLR1 rs11053646 SNP was genotyped using PCR-RFLP. Genotype distributions were tested for Hardy-Weinberg equilibrium (HWE). Logistic regression models adjusted for age, sex, and body mass index were used to estimate odds ratios (ORs) with 95% confidence intervals (CIs).
Results
Genotype distribution in controls conformed to HWE (p=0.14). The GG genotype was predominant, while the CC genotype was absent. GC frequency was slightly higher in T2D cases, but not statistically significant. Allele distributions were comparable between groups. Adjusted analysis showed no significant association with T2D risk (OR=0.41, p=0.14).
Discussion
OLR1 rs11053646 SNP was not significantly association with T2D risk in this Saudi cohort. The absence of the CC genotype and small sample size may have limited statistical power to detect potential associations.
Conclusion
OLR1 rs11053646 SNP does not appear to be associated with T2D risk in Saudi adults. Larger studies are required to confirm these findings.
The TCF7L2 rs12255372 polymorphism, particularly the T allele, is associated with an increased risk of type 2 diabetes mellitus and early renal dysfunction, and may serve as a promising molecular marker for early risk stratification of diabetic kidney disease.
Z.A. Raximberdiyeva· Journal of modern medicine· 0 citations
Multivariable analysis provides evidence supporting an independent association between the MIA3 rs17465637 variant and CAD susceptibility in this Saudi cohort, and the observed associations with adverse lipid profiles further provide evidence linking this specific locus to the molecular mechanisms underlying cardiovascular disease.
N. Bogari, Samar N. Ekram, Amr A. Amin et al.· Diagnostics· 0 citations
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.
Abdur Rauf, Asifa Majeed· JOURNAL OF PAKISTAN MEDICAL...· 0 citations
AIMS
This study investigated the association between BAFF gene polymorphisms (rs1041569 and rs9514828) and preeclampsia (PE) susceptibility in an Iranian population, with a focus on disease severity and onset timing.
PATIENTS AND METHODS
This case-control study included 560 pregnant women (280 with PE and 280 normotensive controls) from Zahedan, southeastern Iran. Genotyping was performed using PCR-RFLP. Associations were assessed using logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs).
RESULTS
For rs9514828, the CT and TT genotypes were associated with increased PE risk (OR = 1.81, p = 0.011; OR = 2.13, p = 0.002). For rs1041569, the AT and TT genotypes were also associated with increased risk (OR = 1.48, p = 0.033; OR = 1.68, p = 0.037). Haplotype analysis revealed that the C-A haplotype was protective (OR = 0.69, p = 0.003), while the T-T haplotype showed similar protection (OR = 0.69, p = 0.003). All genotype distributions were in Hardy-Weinberg equilibrium in the control group.
CONCLUSION
BAFF polymorphisms are significantly associated with PE susceptibility in the Iranian population and may serve as potential biomarkers for PE risk assessment.
Kosar Shirvani Baghbabouie, D. Jahantigh, F. Forghani et al.· Personalized Medicine· 0 citations
Background: The transcription factor 7-like 2 (TCF7L2) gene is one of the strongest genetic determinants of type 2 diabetes mellitus (T2DM), with the rs7903146 (C > T) polymorphism consistently associated with impaired insulin secretion and glucose dysregulation. This study investigated the associations between the TCF7L2 rs7903146 polymorphism, glycemic control, oxidative stress biomarkers, and T2DM susceptibility, integrating bioinformatic analyses to explore the functional significance of this variant. Methods: This case–control study included 200 patients with T2DM, 100 prediabetic individuals, and 120 healthy controls. Genotyping of rs7903146 was performed using TaqMan SNP assays. Biochemical analyses included fasting plasma glucose (FPG), glycated hemoglobin (HbA1c), lipid profile, and oxidative stress biomarkers, including superoxide dismutase (SOD), glutathione peroxidase (GPx), total antioxidant capacity (TAC), and malondialdehyde (MDA). Bioinformatic analyses included population frequency analysis, regulatory annotation, chromatin accessibility assessment, expression quantitative trait locus (eQTL) analysis, protein interaction network construction, and pathway enrichment analyses to investigate the functional consequences of rs7903146. Results: The T allele frequency was markedly higher in T2DM patients (33.5%) and prediabetic individuals (30%) than in controls (13.3%) (p < 0.001). T2DM susceptibility increased under allelic (OR = 3.27, 95% CI: 2.14–5.01), dominant (OR = 3.9, 95% CI: 2.37–6.42), and recessive (OR = 6.92, 95% CI: 1.59–30.07) models (p < 0.01). T2DM patients also showed significantly lower superoxide dismutase (SOD) and glutathione peroxidase (GPx) activities, lower total antioxidant capacity (TAC), and higher MDA levels (p < 0.001). T allele carriers had poorer glycemic control and greater oxidative stress. Bioinformatic analyses showed that rs7903146 resides within an active intronic regulatory region with chromatin accessibility, enhancer-associated histone marks, transcription factor occupancy, and candidate cis-regulatory elements. eQTL analyses showed tissue-specific effects on TCF7L2 expression, while network and pathway analyses highlighted WNT signaling, β-catenin transcriptional complexes, and metabolic regulation and oxidative stress pathways. Conclusions: The TCF7L2 rs7903146 polymorphism was significantly associated with T2DM susceptibility, impaired glycemic regulation, and altered oxidative stress biomarkers. Bioinformatic analyses provided predictive evidence suggesting that rs7903146 may have tissue-specific regulatory relevance and may be indirectly linked to metabolic and WNT/β-catenin signaling pathways. However, because of the observational case–control design, these findings do not establish causality, and the proposed regulatory mechanisms require experimental validation.
Ahmed M. Ahmed, Hakeemah H Al-Nakhle, Amjad M. Yousuf et al.· Diagnostics· 0 citations
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.
Safana S. Dardouh, M. Mohammed, Mohammad M. F. Al-Halbosiy· Adolescência e Saúde· 0 citations