A Genetic Variant in Proline and Serine Rich Coiled-Coil ۱ Gene Is Associated with the Risk of Cardiovascular Disease

Background: Cardiovascular disease is one of the most common causes of morbidity and mortality worldwide. The Proline and Serine Rich Coiled-Coil ۱ gene in ۱p۱۳.۳ locus has been reported to be associated with low density lipoprotein cholesterol (LDL-C) and coronary artery disease (CAD). The objective of this study was to investigate the association between the rs۵۹۹۸۳۹ polymorphism of the Proline and Serine Rich Coiled-Coil ۱ (PSRC۱) gene with CVD outcomes in a population sample recruited as part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort. Methods: Five hundred and nine individuals who had an average follow-up period of ۱۰ years were enrolled as part of the MASHAD cohort. DNA was extracted and genotyped using the TaqMan-real-time-PCR based method. Results: The study found individuals with GA/GG genotypes were at a higher risk of CVDs (OR= ۴.۷; ۹۵% CI, ۲.۵-۸.۷; p< ۰.۰۰۱) in comparison to those with AA genotype; however, the result was not significant for GG genotype data. Conclusions: The results suggest that the GA/GG genotypes of the PSRC۱gene locus were at increased risk of CVD in a representative population-based cohort, demonstrating further functional analysis to discover the value of emerging marker as a risk stratification biomarker to recognize high risk cases.

Keywords:

Cardiovascular diseases , cohort studies , Genetic Polymorphism , PSRC۱ gene