Human Genetics and Genetic Disorders

The paper discusses about the association between SNP rs5063 in the TNF or OPG gene and encoding osteoprotegerin and cardio artery disease. CAD is caused by atherosclerosis in brain vessels. OPG SNP rs5063 showed significant association with cardio artery disease in a population with diabetes from Italy. Other researchers in our laboratory found that SNP rs5063 was significantly associated with cardio artery disease in the Hubie population. Specifically, SNP rs5063 showed a significant association with cardio artery disease in the Central Gene ID cohort (adjusted Padj, OR) and in the Northern Gene ID independent cohort (Padj ,OR). The association became highly significant in the combined population (Padj, OR). My role in the project was to perform quantitative realtime RT-PCR analysis to determine whether SNP5063 is associated with the OPG mRNA expression level. Interestingly, minor allele C of rs5063 was significantly associated with an increased mRNA expression level of OPG. Together, these data suggest that SNP rs5063 is a functional genetic variant associated with the expression level of OPG and risk of Cardio Artery Disease.