The association between a variant of the cyclin-dependent kinase inhibitor 2A/B gene and risk of cardiovascular disease

Background Cardiovascular disease (CVD) is the most common cause of morbidity and mortality globally. Despite progress being made in the diagnosis and treatment of CVDs, one third of deaths are due to CVDs. We have investigated the association between the rs1333049 polymorphism of the cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) gene with CVD outcomes in a population sample recruited as part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort. Methods and results Five hundred and nine individuals who had a median follow-up period of 10 years were recruited as part of the MASHAD cohort. Anthropometric, and biochemical parameters were assessed followed by genotyping using TaqMan-real-time-PCR based method. Our data showed that carriers of the GG genotype were significantly more likely to develop CVD, compared to those with a CC or CG genotypes (OR: 4.77, 95%CI: 2.62–8.68, p = 0.001). Similar result we also found in second population which were follow up for 10 years. In particular cases who had an event in recessive genetic model (CC vs CG + GG) had a higher risk of developing CVD (OR: 5.57, 95%CI: 2.80–11.06, p = 0.001). Conclusion We have found that carriers of the GG genotype of the CDKN2A/B gene locus were at increased risk of CVD in a representative population-based cohort, indicating further functional analysis to explore the value of emerging marker as a risk stratification biomarker to identify high risk cases.