Cardiovascular Genomics: Linking Genes to Heart Disease

Cardiovascular Genomics: Linking Genes to Heart Disease

By Aditi Joshi

Around the globe, cardiovascular diseases are one of the leading causes of death. In 2013, one of every three deaths in the US was due to a cardiovascular disease. It is anticipated that these numbers will continue to increase to reach 23.6 million deaths in 2030 – unless a breakthrough in treating or preventing heart-related diseases is made.

Cardiovascular genomics is a new field of science that primarily focuses on characterizing genetic risks of heart disease and identifying new targets for drug discovery. Until recently, genetic factors involved in the origin of cardiovascular diseases were not well-understood. However, the study of genetic factors has now come to the forefront. The genome-wide association studies (GWAS) have identified more than 152 associated loci and 320 candidate genes. Although their predictive capacity of cardiovascular risks has been often challenged, the discovery of genes has opened up the possibility of gene therapy for cardiovascular diseases.

Recent Advances

Cardiovascular genomics, in particular genetic testing, can potentially lead to the prevention of strokes. For instance, variants on chromosome 9p21 are associated with myocardial infarctions and ischemic strokes. Common variants on 4q25 and 16q22 are associated with atrial fibrillation and ischemic strokes (cardioembolic strokes in particular). The tests for these genes are now commercially available. However, the current guidelines to prevent a stroke, as issued by American Heart Association, do not recommend genetic screening in the general population to prevent the first stroke.

Personalized therapies for cardiovascular diseases have been facilitated by cardiovascular genomics. In a recent study at the Montreal Heart institute, it was observed that the effects of a drug used for atherosclerosis, dalcetrapib, were strongly associated with a specific gene called ADCY9 (adenylate cyclase 9) on chromosome 16. Further using various statistical techniques, the researchers noted that as compared to a placebo, the effects of dalcetrapib were observed for certain genetic profiles only.

Future Directions

Thanks to the efforts of the research community during the past decade, the field of cardiovascular genomics has continued to make rapid progress. Several biobanks such as the Japanese Biobank, the Reykjavik Study Biobank and the United Kingdom Biobank continue to collect samples, analyze data and identify targets to pursue for cardiovascular therapies. Various collaborations involving industry and research organizations such as Bayer-MIT collaboration or Sanofi-G3 collaboration hold promise that further research will advance the field rapidly to develop personalized therapies for cardiovascular diseases. These initiatives make one hope that the risk of cardiovascular diseases will be minimized and personalized medication will be available in the near future.



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