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.
Vikas Kumari, Nisha Khola, Rajan Sharma et al.· International Journal of Dru...· 0 citations
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