The C Allele of rs2073618 and rs3134069 of the Osteoprotegerin Gene Is Associated with Diabetic Retinopathy in Slovenian Patients with Type 2 Diabetes

ASSOCIATION OF THE TCF7L2 RS12255372 VARIANT WITH SUSCEPTIBILITY TO TYPE 2 DIABETES MELLITUS AND EARLY DIABETIC KIDNEY DISEASE

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.

Association of the KCNJ11 E23K (rs5219) variant with proliferative diabetic retinopathy in Lebanese patients with type 2 diabetes

Background ATP-sensitive potassium channels regulate insulin release, with the KCNJ11 gene encoding the Kir6.2 channel’s pore subunit. The E23K variant, previously linked to type 2 diabetes (T2DM), was examined in a large Lebanese cohort to determine its relationship to diabetic retinopathy (DR) severity and glycemic control. Methods A case–control sample of 1,415 adults with T2DM were classified as diabetes without retinopathy (DWR; n = 933), non-proliferative DR (NPDR; n = 342), or proliferative DR (PDR; n = 140) based on ETDRS criteria, and compared with 1,389 normoglycemic controls. Logistic regression was used to assess genetic associations across multiple inheritance models. Sensitivity analyses stratified by diabetes duration and area under the ROC curve (AUC) compared discrimination using age and sex, with or without genotype. Results The K allele was more frequent in T2DM than in controls. Although E23K was not associated with overall DR, its effect was stage-specific. In comparisons of PDR with DWR, each additional K allele increased PDR odds, and K/K homozygosity showed a stronger recessive effect. The K/K genotype was notably enriched among DR patients with HbA1c ≤ 7.0%, indicating an elevated risk under good glycemic control, but showed no signal in those with poorer control. It was also overrepresented in PDR. Risk associations were more pronounced in individuals with diabetes duration ≥10 years, and adding genotype information resulted in a small increase in model discrimination beyond age and sex alone (AUC = 0.552–0.598; ΔAUC = 0.046). However, the overall discriminatory performance remained poor, suggesting limited clinical utility of E23K genotyping as an isolated predictive marker. Conclusion In this Middle Eastern population, KCNJ11 E23K showed a stage-specific association with prevalent proliferative, vision-threatening DR rather than with earlier stages of retinopathy. This supports the potential utility of E23K as a marker of advanced retinopathy severity, although longitudinal studies in diverse ethnic groups are required to determine its relationship with disease progression.

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.

Common genetic variants in dyslipidemia, inflammation, and angiogenesis pathways associated with diabetic nephropathy in Tunisians

Association of the OLR1 rs11053646 Polymorphism with Type 2 Diabetes Risk in Saudi Adults.

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.

Association of Functional ADRB1 (rs1801252) and ADRB2 (rs1042714) Polymorphisms with Primary Open-Angle Glaucoma in a Saudi Cohort

This case–control study investigated the association between β-adrenergic receptors, ADRB1 rs1801252 (A-to-G/Ser49Gly) and ADRB2 rs1042714 (C-to-G/Gln27Glu), polymorphisms and primary open-angle glaucoma (POAG) in a Saudi cohort. Genotyping of 418 participants (167 cases and 251 controls) was performed using real-time PCR assays. Analysis was performed among 412 participants with complete genotype data for both SNPs (163 cases and 249 controls). The ADRB1 rs1801252-G (Gly49) allele was significantly associated with increased POAG risk across allelic (adjusted odds ratio (OR) = 1.93; 95% confidence interval (CI) = 1.22–3.08; p = 0.005), dominant (adjusted OR = 2.13; 95% CI = 1.23–3.70; p = 0.007), and additive (adjusted OR per G allele = 1.93; 95% CI = 1.22–3.08; p = 0.005) models, surviving Bonferroni correction (α = 0.025). In contrast, ADRB2 rs1042714 showed no significant association under any model. Combined two-locus allelic analysis suggested a nominally increased risk for the C–G combined profile (ADRB2C + ADRB1G; OR = 1.91; p = 0.033). No significant genotype associations were observed with intraocular pressure or cup-to-disc ratio within the POAG cohort. These findings suggest that ADRB1 rs1801252 may contribute to POAG susceptibility in this population; replication in larger cohorts and targeted functional follow-up studies are warranted to elucidate pressure-independent mechanisms.