Association of Endonuclease G Gene Variants with Cardiovascular Disease Risk Factors

Cardiovascular disease (CVD) is a leading cause of death, supporting the need for the identification of novel biomarkers as risk stratification factors. Endonuclease G (ENDOG) has recently been suggested to be a novel determinant of cardiac hypertrophy and mitochondrial function, and plays an important role in apoptosis processes involved in cardiac myocyte death. The aim of current study was to explore the association of two genetic variants in ENDOG gene (ENDOG) with CVD risk factors in an Iranian population.

Subjects included 663 patients with CVD and 282 healthy individuals recruited as part of the Mashhad Stroke and Heart Atherosclerotic Disorders Cohort Study. The ENDOG S12L (rs 2293969) and L142M (rs 61397314) variants were genotyped. Anthropometric and biochemical factors were measured in all the subjects followed by univariate and multivariate analyses to determine the association of these genetic markers with CVD and biochemical parameters.

 ENDOG polymorphisms were found at a significantly higher prevalence in individuals who had histories of smoking and breaking point in L142M. In contrast, other risk factors for cardiovascular disease, including lipid profile and blood pressure, showed no or very weak relationship with the ENDOG polymorphisms.

Our findings indicated an association between an ENDOG genetic variant and smoking history as a cardiovascular risk factor. Further studies in the prospective setting are warranted to investigate the value of this marker.