[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].
The association of UCP1 with BMI in the subjects of this study does not agree with the conclusions found in the scientific literature about an increased risk of obesity among G* allele carriers in Caucasian samples, but the associations between UCP2-3 and lipid metabolism parameters in Ob Ugrians are consistent with those reported in Mongoloid populations.
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
Rajan Rajan, Vikas Kumari, Nisha Khola et al.· International Journal of Dru...· 0 citations
The heterozygous TG genotype is associated with a lower BMI and a more favorable distribution of adipose tissue in obese women under 50 years of age, indicating the important role of sex hormones in mediating the effect of this polymorphism.
N. I. Pavlova, A. Bochurov, A. Krylov· Russian Journal of Genetics· 0 citations
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.
V. Vennu· Endocrine, Metabolic & Immun...· 0 citations
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.
L. Fróis, Luiz Antônio Alves de Menezes-Júnior, Samara Silva de Moura et al.· Nutrire· 0 citations
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.
Vikas Kumari, Nisha Khola, Rajan Sharma et al.· International Journal of Dru...· 0 citations
