[Association of UCP1 rs1800592, UCP2 rs660339, and UCP3 rs1800849 polymorphisms with body mass index and lipid metabolism parameters in the indigenous population of the North of Western Siberia].

Genetic Polymorphisms in ABCA1 (rs2230806 and rs141420090) Gene and Their Association with the Risk of Type 2 Diabetes and Coronary Artery Disease: A Case-Control Study

Background: CAD is linked to T2DM through common pathways in the metabolism and genome. The ATPbinding cassette transporter A1 (ABCA1) gene is a key component in cholesterol efflux, high-density lipoprotein (HDL) metabolism, and glucose-lipid balance. Genetic polymorphisms of ABCA1 could affect insulin sensitivity and lipid transport and consequently affect the susceptibility to both T2DM and CAD. Objective: To assess the relationship of ABCA1 polymorphisms: (rs2230806:R219K and rs141420090) with the risk of T2DM and CAD in north Indian population. Methods: The study comprised 600 unrelated cases (150 controls, 150 T2DM, 150 CAD, 150 T2DM+CAD). The PCR-RFLP technique was used for genotyping. The chi-square test was utilised to compare genotypic and allelic frequencies, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. All groups were found to be at Hardy-Weinberg equilibrium (HWE). Results: For rs2230806, the GG genotype frequency was significantly lower in T2DM patients (26%) compared to controls (37.3%) (χ²=6.39, p=0.041). The G allele frequency was significantly reduced in T2DM+CAD patients versus controls (49.7% vs 60.3%; OR=1.54, 95% CI: 1.22–2.13, p=0.014). Under the dominant model, the risk genotype (GA+AA) conferred significantly higher odds for T2DM (OR=1.98; p=0.012), CAD (OR=1.80; p=0.040), and T2DM+CAD (OR=2.62; p=0.002). However, in comparison, there was no significant association observed between rs141420090 and T2DM, CAD or T2DM+CAD in any genetic model (all p>0.05).Conclusion: ABCA1 rs2230806 is a potential genetic risk factor for T2DM and comorbid CAD in the Haryana population. rs141420090 does not appear to be associated with cardiometabolic disease susceptibility. The results need to be confirmed in larger multicenter studies

Association of the rs2241766 Polymorphism of the ADIPOQ Gene with Anthropometric Indicators of Obesity (BMI, WHR, WHtR) in the Yakut Population

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

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.

Leisure-time physical activity is associated with lower cardiovascular risk in carriers of the rs693 (APOB) and rs1799983 (NOS3) polymorphisms: a cross-sectional study

Cardiovascular diseases are the leading cause of morbidity and mortality worldwide, especially in low- and middle-income countries. To analyze the interaction between the rs693 (APOB gene) and rs1799983 (NOS3 gene) polymorphisms and leisure-time physical activity (LTPA) and cardiovascular risk (CVR) in adults. This population-based cross-sectional household study in Brazil evaluated CVR using the Framingham Risk Score (FRS), categorized as low (< 5%) or intermediate-to-high (≥ 5%). LTPA was self-reported via a VIGITEL-based questionnaire and categorized per current guidelines. The rs693 and rs1799983 polymorphisms were genotyped by real-time polymerase chain reaction with TaqMan® probes and classified as wild-type homozygous (TT and TT), heterozygous (CT and GT), and mutant homozygous (CC and GG), respectively. A combined genetic risk score was created, in which each genotype received a score from 0 to 2 according to the number of risk alleles. The values were summed, weighted by coefficients estimated in the sample, and subsequently categorized as low or high risk according to the median. Associations between genotypes, LTPA, and CVR were analyzed using univariate and multivariate logistic regression. Among 1,532 participants, 50.6% were male, 46.7% were aged 35–59 years, and 70.3% were physically inactive. Homozygosity for the variant allele was observed in 15.7% of participants for the rs693 polymorphism (CC) and 10.4% for the rs1799983 polymorphism (GG). Physically active individuals with the rs693 variant allele had a lower likelihood of elevated CVR (OR = 0.2; 95% CI: 0.1–0.7; p = 0.007) compared to wild-type homozygotes who were physically inactive. For rs1799983, wild-type homozygous and physically inactive individuals had a higher likelihood of elevated CVR (OR = 2.2; 95% CI: 1.2–3.9; p = 0.011) than physically active individuals with the same genotype. In crude analysis, individuals with high genetic risk but who were physically active had a lower likelihood of elevated CVR (OR = 0.5; 95% CI: 0.2–0.9; p = 0.025) than the low genetic risk and physically active group. Thus, leisure-time physical activity modified the association between rs693 and rs1799983 polymorphisms and CVR, indicating a significant interaction between genetic factors and lifestyle.

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

Background: Osteoprotegerin (OPG) is best known for regulating bone remodeling, vascular calcification, apoptosis, and immune responses. Recent studies also suggest that OPG may play an important role in diabetic microvascular complications such as diabetic retinopathy (DR). Objectives: The aim of our cross-sectional case–control study was to assess the relationship between the OPG variants (rs2073618 and rs3134069) and DR in a large cohort of subjects with type 2 diabetes (T2DM). Methods: A total of 1554 subjects with T2DM were enrolled in this cross-sectional case–control study: 577 with DR and 977 without DR. Genotyping was performed using StepOne Real-Time PCR with TaqMan genotyping assays. Results: Our data indicated that the prevalence of the C minor allele was significantly higher among patients with DR and type 2 diabetes in both polymorphisms. Furthermore, individuals carrying the CC genotype of the rs2073618 had a 1.42-fold increased likelihood of DR, while carriers of the CC or CA genotypes of the rs3134069 exhibited a 1.55-fold higher likelihood of DR. Conclusions: Taken together with existing evidence, these results suggest that OPG polymorphisms may be involved in the development of DR.

Occurrence of G allele at rs1800976 of ABCA1 gene in North Indian population (Haryana) confers increased susceptibility to atherosclerotic complications in diabetic individuals

Background Type 2 diabetes mellitus (T2DM), and coronary artery disease (CAD) are metabolically related lesions with dyslipidemia and the deficiency of cholesterol transportation. ABCA1 is a key gene in HDL metabolism, and its polymorphisms could act as cardiometabolic risk factors. Objective The study needed to examine how ABCA1 (rs1800977 and rs1800976) polymorphisms relate to T2DM and CAD, as well as to both in a North Indian cohort. Methods Case control study was done on 600 participants (controls, T2DM, CAD, T2DM+CAD; n=150 each). PCRRFLP was used to carry out genotyping. Statistical tests were chi-square tests, odds ratios (ORs), and haplotype analysis. Results There was no significant relationship with rs1800977. Conversely, the association between the two diseases (CAD and T2DM+CAD) with the association of a strong association with the frequency of G allele and the GG genotype was observed in the case of rs1800976 (OR=3.11 and 2.58, respectively; p<0.05). The high triglycerides and low HDL-C were associated with risk genotypes, and CG and TG were haplotypes of risk. Conclusion The polymorphism at the site (rs1800976) was greatly linked to higher forms of CAD and T2DM+CAD indicating that the site could serve as a genetic marker of cardiometabolic risk.