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OBJECTIVE: We aim to investigate the relationship between genetic variation and biological function on a genomic scale, focusing on identifying genes responsible for complex diseases using single nucleotide polymorphisms. Specifically, the study explores the association between the rs2383206 gene located on chromosome 9p21.3 and the development of coronary artery disease (CAD) in a specific Saudi population. PATIENTS AND METHODS: This case-control study was conducted between September 2013 and May 2015 at King Abdullah Medical City (KAMC) and Al-Noor Specialist Hospital targeting the Saudi Population residing in the western region of Saudi Arabia. The study enrolled 315 cases with documented CAD and 205 controls with normal coronary arteries on coronary angiography. Genomic DNA was extracted from peripheral blood samples of both groups, and genotyping of rs2383206 was performed using the tetra-primer amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) method. RESULTS: In this study, the prevalence of the GG genotype in rs2383206 was found to be higher in patients with CAD than in controls, with an odds ratio of 1.997 [95% confidence interval (CI): 1.176-3.394, p = 0.007]. Additionally, individuals with the GG genotype who had sedentary lifestyles, hyperlipidemia, and smoked were found to be at a higher risk for developing CAD (p = 0.003, 0.009, and 0.003, respectively). The G allele also increased the risk of CAD with an odds ratio of 1.413 (95% CI: 1.099-1.817; p = 0.004). CONCLUSIONS: In conclusion, this study demonstrated a significant association between the rs2383206 variant located on chromosome 9p21 and the development of CAD. The findings of this study provide valuable insights into the genetic susceptibility to CAD and highlight the potential of this variant as a target for future functional studies. [ABSTRACT FROM AUTHOR]

Several studies have reported that chromosome 9p21 is significantly associated with ischemic stroke (IS) risk, with the G allele associated with increased risk. However, controversial results have been reported in the literature. We systematically assessed the relationship between stroke and three 9p21 loci (rs2303206, rs2383207, and rs10757278) in this meta-analysis. First, we searched the PubMed and Embase databases for relevant studies. We then calculated odds ratios using the chi-squared test. The evaluation of experimental data was performed using bias tests and sensitivity analyses. We analyzed data from 16 studies involving 18,584 individuals of Chinese ancestry, including 14,033 cases and 14,656 controls. Our results indicated that chromosome 9p21 is significantly associated with IS (odds ratio: 1.15, 95% confidence interval: 1.1–1.20, p < 0.0001). Because the three single-nucleotide polymorphisms (rs2383206, rs2383207, and 10757278) have a linkage disequilibrium relationship, all three may increase the risk of IS. [ABSTRACT FROM AUTHOR]

Several studies have reported that chromosome 9p21 is significantly associated with ischemic stroke (IS) risk, with the G allele associated with increased risk. However, controversial results have been reported in the literature. We systematically assessed the relationship between stroke and three 9p21 loci (rs2383206, rs2383207, and rs10757278) in this meta-analysis. First, we searched the PubMed and Embase databases for relevant studies. We then calculated odds ratios using the chi-squared test. The evaluation of experimental data was performed using bias tests and sensitivity analyses. We analyzed data from 16 studies involving 18,584 individuals of Chinese ancestry, including 14,033 cases and 14,656 controls. Our results indicated that chromosome 9p21 is significantly associated with IS (odds ratio: 1.15, 95% confidence interval: 1.1–1.20, p < 0.0001). Because the three single-nucleotide polymorphisms (rs2383206, rs2383207, and 10757278) have a linkage disequilibrium relationship, all three may increase the risk of IS.