Positive Association of the JAG1 rs1327235 Genotype with Coronary Artery Disease in Men, the Tampere Adult Population Cardiovascular Risk Study

Abstract

Aims: The intronic single nucleotide polymorphism rs1327235 (A>G) close to the JAG gene has been implicated to be involved in blood pressure physiology in a genome-wide association study. We wanted to study whether it was associated with hypertension and coronary artery disease (CAD) in the Tampere adult population cardiovascular risk study. Materials and Methods: We analyzed a Finnish periodic health examination cohort of 191 men with diagnosed hypertension and 295 controls. Samples were genotyped for the JAG1 rs1327235 polymorphism using Competitive Allelic Specific PCR (KASP). The incidence of CAD was determined by self-report and the National Hospital Discharge Registry (HILMO). Results: There was no association between the JAG1 rs1327235 genotypes with hypertension at the age of 50 years. However, when the subjects were followed to the age of 60 years, those with the genotype GG had a higher prevalence of CAD (17.9%), compared with the A-allele (9.7%) (p = 0.036). When prevalence of CAD was adjusted by body mass index and total cholesterol, the OR for GG genotype was 2.19 (p = 0.029, confidence interval 1.084 - 4.429) compared with A-allele carriers. In addition, the GG genotype was associated with higher total cholesterol and low-density lipoprotein-cholesterol values, compared with the A-allele. Conclusions: Our findings suggest that the variations in JAG1 rs1327235 may be involved in CAD and cholesterol metabolism.