Evaluating the Role of MIA3 Variant rs17465637 in Coronary Artery Disease: A Comprehensive Case–Control Analysis

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.

The Relationship Between a Genetic Variant in the HSPB1 Gene and a Lower Risk of Cardiovascular Diseases: The Results of the MASHAD Cohort Study

Coronary heart disease (CHD) is a leading cause of death, highlighting the importance of risk stratification and prognostic biomarkers in CHD. There is a growing body of evidence supporting the potential value of heat shock proteins (HSPs) in the pathogenesis of atherosclerosis. Here, we explored the relationship between serum anti-HSP27 levels and a genetic variant, rs2868371, in the HSB1 gene in the Stroke and Heart Atherosclerotic Disorders (MASHAD) cohort study carried out in Mashhad. A total of 8776 subjects were recruited. Anti-HSP27 levels were measured using an in-house enzyme-linked immunosorbent assay (ELISA), followed by genotyping using a TaqMan® probe-based assay. Demographic, biochemical, and hematological characteristics of the population were evaluated in all subjects. Kaplan-Meier curves were utilized, while logistic regression models were used to evaluate the relationship between genotypic frequencies and clinical characteristics of the population. No significant difference in anti-HSP27 levels was demonstrated between subjects with and without CHD. The frequencies of the CC, CG, and GG genotypes were 68%, 26.8%, and 5.2%, respectively. CAD patients with GG and GC genotypes had a lower risk of myocardial infarction (MI) compared with the reference group after adjusting for confounding factors [OR=0.27 (95% CI=0.08-0.94), P=0.040]. Our data revealed a relationship between the genetic variant in the HSB1 gene and the risk of developing CHD, supporting further research on the potential value of this emerging marker in predicting cardiovascular disease.

Association of the ITGA4 rs1143674 polymorphism with subclinical atherosclerosis in patients with ulcerative colitis over 40 years of age

Background: Patients with ulcerative colitis (UC) have an increased cardiovascular risk due to chronic inflammation and endothelial dysfunction. The ITGA4 gene encodes the α4 integrin subunit, a key regulator of leukocyte adhesion to endothelium. The ITGA4 rs1143674 genetic variant has been associated with coronary atherosclerosis and myocardial infarction, while its homozygous CC genotype is linked to severe UC course. However, data on the association of the ITGA4 rs1143674 variant with subclinical atherosclerosis in UC patients are lacking in the literature, and the impact of age on the manifestation of this genetic risk has not been evaluated. Aim: To determine the association of the ITGA4 rs1143674 genetic variant with subclinical atherosclerosis of the carotid and femoral arteries in UC patients according to age. Methods: A single-center, observational, cross-sectional, comparative study was conducted. From March 2023 to December 2025, UC patients and healthy volunteers underwent clinical examination, ultrasound examination of the carotid and femoral arteries, and molecular genetic testing. Subclinical atherosclerosis was defined as carotid intima-media thickness 0.9 mm or the presence of an atherosclerotic plaque in at least one vascular bed. Atherosclerotic plaques were defined as a focal thickening of the vessel wall exceeding 50% compared to adjacent areas, or a focal thickening 1.5 mm protruding into the arterial lumen. Genotyping of the ITGA4 rs1143674 polymorphism was performed by real-time polymerase chain reaction. Results: The main group included 111 UC patients (median age 40.0 [33.3; 47.0] years, 50 (45%) males); the control group comprised 73 healthy volunteers (median age 40.0 [32.3; 49.0] years, 26 (35.6%) males). Subclinical atherosclerosis was identified in 61 (54.9%) UC patients, which was 2.4 times more frequent than in the control group (odds ratio (OR) 4.02; 95% confidence interval (CI) 2.08–7.77; p = 0.001). The prevalence of atherosclerosis in the 20–40 years age group was 38.9% (21/54), and in the 41–60 years age group was 70.2% (40/57) (OR 3.7; 95% CI 1.68–8.13; p = 0.001). The genotype distribution of ITGA4 (rs1143674) in the UC group did not differ from that in the control group (p = 0.793). In the overall UC cohort, no association between the genotype and atherosclerosis was found (p = 0.260). After age stratification, no differences in genotype frequencies were observed between patients with and without atherosclerosis in the 20–40 years age group (p = 0.705); in the 41–60 years age group, the homozygous CC genotype was more frequent in patients with atherosclerosis than in those without (30% (12/40) vs 5.9% (1/17), p = 0.039). Multivariable logistic regression analysis showed that age 40 years (OR 6.73; 95% CI 2.52–17.92; p 0.001), the CC genotype of ITGA4 rs1143674 (OR 3.09; 95% CI 1.11–8.64; p = 0.031), and chronic continuous UC course (OR 5.77; 95% CI 2.14–15.56; p = 0.001) were independent predictors of atherosclerosis. The developed prognostic model demonstrated acceptable discriminatory performance: AUC 0.761 (bootstrap-verified 95% CI 0.689–0.847). Conclusion: In patients with UC, the homozygous ITGA4 rs1143674 CC genotype is associated with subclinical atherosclerosis only in those aged over 40 years. The proposed prognostic model for atherosclerosis development, including age 40 years, continuous UC course, and the CC genotype of ITGA4 rs1143674, may be used for cardiovascular risk stratification and to justify early instrumental screening in carriers of the unfavorable genotype.

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 PCSK9 and CCL22 gene polymorphisms with myocardial infarction in a South Indian population

Association of the PROC rs146922325 variant with venous thrombosis in a Taiwanese population

Hereditary protein C deficiency, caused by pathogenic variants in the PROC gene, is a known risk factor for venous thrombosis. However, data on PROC variants in Asian populations are limited. This study evaluated the clinical relevance of rs146922325 and its association with thrombotic outcomes in Taiwanese patients. Using genotyping data from a single-nucleotide polymorphism array as part of the Taiwan Precision Medicine Initiative, we conducted a retrospective case–control study that included 805 carriers of the PROC rs146922325 variant and 8,050 age- and sex-matched non-carriers. The baseline characteristics, coagulation profiles, and thrombotic outcomes were systematically compared. Univariable and multivariable logistic regression analyses were performed to assess the association between rs146922325 and venous thrombosis. Sensitivity analyses were conducted by restricting the cohort to warfarin-naïve participants and incident venous thrombosis events occurring after genotyping. Carriers of the rs146922325 T allele exhibited significantly lower protein C levels than non-carriers (71.28% vs. 114.58%, p < 0.001) and a higher prevalence of venous thrombosis (4.10% vs. 2.48%; p = 0.009). After multivariable adjustment, rs146922325 carrier status remained independently associated with an increased risk of venous thrombosis (adjusted odds ratio [aOR], 1.61; p = 0.015). Allelic analysis further indicated that the T allele was associated with elevated thrombotic risk (aOR, 1.74; p = 0.004). No clear dose–response pattern was observed because of the limited number of homozygous TT individuals. Sex-stratified analyses suggested a similar association across sexes; however, the sex × genotype interaction was not statistically significant. The PROC rs146922325 variant was associated with an increased risk of venous thrombosis in the Taiwanese population. These findings expand the current knowledge of PROC-related thrombophilia in East Asians and support the potential value of genetic risk stratification in thrombosis research.