Genetic Patterns in LDLR Gene Polymorphism among Individuals with Co-Existing Diabetes and Coronary Artery Disease

Background: This research investigates the association between genetic polymorphism in the low-density lipoprotein receptor (LDLR) gene and type 2 diabetes mellitus (T2DM) with coronary artery disease (CAD). It examines two single nucleotide polymorphisms (SNPs), rs5925 (C/T), and rs11669576 (A/G), located within the LDLR gene on chromosome 19. The focus of the study involves analyzing the genotypes and haplotypes associated with these two SNPs. Objective: To comprehend the influence of the two SNPs and their combined presence in haplotypes on the onset of CAD in individuals with diabetes. Materials and Methods: This research involved 400 participants divided into two groups: 200 individuals with T2DM and CAD and 200 unaffected individuals. Logistic regression analysis was used to assess the risk associated with LDLR gene polymorphisms and haplotypes. Genotyping employed the allele discrimination/SNP’s real-time PCR TaqMan method. Results: The study revealed a significant association between rs5925 T > C polymorphism and an increased risk of T2DM and CAD, independent of age, sex, and body mass index. The presence of the C allele significantly elevated the risk. Haplotypes GC and CT were found to be strongly associated with the diseases. GC increased the risk of T2DM and CAD, while CT appeared to be protective. Haplotype AT did not show a significant association. Linkage disequilibrium analysis indicated a moderate level of association ( D ’ = 0.74) and a weak level of association ( r 2 = 0.03) between the two SNPs, suggesting partial correlation. Conclusion: The study highlights the role of genetic variations in the LDLR gene, particularly SNP rs5925, in the development of T2DM and CAD. Haplotype analysis revealed significant association, with GC increasing risk and CT showing protective effects, while haplotype AT had no substantial association with the diseases.