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
Jul 2026· International Journal of Drug Delivery Technology· Vol 16· 0 citations· 11 references
TL;DR
ABCA1 rs2230806 is a potential genetic risk factor for T2DM and comorbid CAD in the Haryana population and rs141420090 does not appear to be associated with cardiometabolic disease susceptibility.
Abstract
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
Background: Type 2 diabetes mellitus (T2DM) is a persistent metabolic disorder characterised by elevated blood glucose levels and influenced by both genetic and environmental factors.
Aim: This study investigated the association of TCF7L2 SNPs rs1790314 and rs12255372 with renal and inflammatory markers in type 2 diabetes mellitus.
Methods: This cross-sectional study examined biochemical markers and the TCF7L2 SNPs rs12255372 and rs1790314 in 140 patients with T2DM attending the diabetic clinics of Rivers State University Teaching Hospital (RSUTH) and the University of Port Harcourt Teaching Hospital (UPTH), together with 40 non-diabetic controls. Biochemical parameters, including fasting blood glucose (FBG), HbA1c, C-peptide, insulin, HOMA-IR, cystatin C, estimated glomerular filtration rate (eGFR), creatinine, urea, and electrolytes, were measured using colourimetric and ELISA methods. The TCF7L2 variants were genotyped using BigDye Terminator sequencing. Data on these parameters and the TCF7L2 genotypes were analysed using GraphPad Prism, SPSS, and Excel. Descriptive statistics were presented as means ± SD, while inferential analyses included Student's t-test, Pearson's correlation, linear regression, and one-way ANOVA. Statistical significance was set at p < 0.05.
Results: The study found an increasing prevalence of T2DM in Port Harcourt in recent years, with rates of 23% in males and 21% in females, and a glycaemic control rate of 38.75%. The TCF7L2 genotype distribution showed that 32.5% had the CC genotype and 11.25% had the CT/TT genotypes at rs1790314, whereas 41.25% had the GG genotype and 3.75% had the GT/TT genotypes at rs12255372. Abnormalities such as hyponatraemia, low chloride levels, and hyperkalaemia were observed in patients with poorly controlled T2DM. Physical activity was associated with better cardiovascular health, as indicated by lower cardiac troponin I (cTnI) levels. Standard antidiabetic drugs, including metformin (Glucophage) and sulfonylureas (Amaryl), were associated with dyslipidaemia, particularly in males, characterised by reduced HDL-C and triglyceride levels and increased atherogenic ratios such as TC/TG. An association was also found between chloride levels and the T allele at rs1790314. BMI and WHR did not correlate with the CT/TT polymorphisms at rs1790314 or the GT/TT polymorphisms at rs12255372, although both were higher in individuals with T2DM carrying the TCF7L2 variants. The rs1790314 CT/TT mutation was associated with higher triglyceride, TC/TG, and TC/HDL ratios and lower HDL-C levels. Insulin resistance, indicated by increased C-peptide levels, was observed in rs1790314 CT/TT carriers, while renal abnormalities associated with rs12255372 GT/TT correlated with cystatin C. Overall, TCF7L2 variants were associated with dyslipidaemia, elevated cystatin C, and increased C-peptide levels. Patients with mutant T alleles in both variants had significantly higher HbA1c, WHR, BMI, lipid, atherogenic marker, and troponin I levels.
Conclusion: The findings suggest that increased insulin resistance and impaired cellular uptake occurred alongside significantly higher C-peptide levels in individuals with the CT/TT polymorphic variants of transcription factor 7-like 2 (TCF7L2) rs1790314. Furthermore, renal abnormalities were associated with the TCF7L2 rs12255372 GT/TT polymorphic variant, which was positively associated with cystatin C in participants with type 2 diabetes mellitus (T2DM) who expressed TCF7L2.
Idoko Roseline, B. Holy, Onwuli Donatus et al.· Asian Journal of Medicine an...· 0 citations
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
The research identified highly significant associations across multiple inheritance models, validating the technical robustness of the findings, and establish DRD2 intronic polymorphisms as critical determinants of schizophrenia risk.
Ishrat Yaseen, Saleem Ahmad, Muhammad Ghalib et al.· Journal of Molecular Neurosc...· 0 citations
OBJECTIVES
Polycystic ovary syndrome (PCOS) is a complicated endocrine condition that causes ovarian dysfunction, metabolic problems, and hormonal irregularities. Genetic factors profoundly affect its pathogenesis. This study investigates the association between polymorphisms in the Transforming Growth Factor Alpha (TGFA) gene, specifically rs11466297 and rs3732248, and the risk of PCOS.
METHODS
We conducted a case-control study involving 200 individuals confirmed to have PCOS and 200 control subjects. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Amplification Refractory Mutation System (ARMS-PCR) procedures to genotype the TGFA SNPs rs11466297 A/C and rs3732248 G/A. We performed statistical analyses, including odds ratios (OR) and 95% confidence intervals (CI), to evaluate the relationship between the polymorphisms and the risk of PCOS.
RESULTS
Genotypic analysis revealed that the TGFA rs3732248 GA heterozygote was significantly associated with increased PCOS risk under the codominant model (OR = 2.16, 95% CI: 1.39-3.32, p < 0.001), dominant model (OR = 1.77, 95% CI: 1.18-2.65, p = 0.013), and overdominant model (OR = 2.26, 95% CI: 1.47-3.45, p = 0.001). All associations remained significant after Bonferroni correction (p < 0.025). For rs11466297, no significant association survived correction. PCOS patients had significantly higher BMI, waist circumference, total cholesterol, and triglycerides compared to controls (p < 0.001 for all). Haplotype analysis revealed no significant association between TGFA haplotypes and PCOS risk.
CONCLUSION
This study is the first to demonstrate that the TGFA rs3732248 polymorphism is significantly associated with PCOS susceptibility in an Iranian population. These findings provide novel genetic evidence supporting a role for TGFA in PCOS pathogenesis and warrant replication in larger independent cohorts.
F. Keykha, M. Mohammadi, Marzieh Ghasemi et al.· BMC Women's Health· 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
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