Human Genomics in Cardiovascular Medicine

Abstract

For the past 10 years in the post-genomic era, emerging technologies in human genomic research have provided us with a plethora of genetic variations implicated in the pathogenesis of cardiovascular diseases. Discovering the key target genes in genomic research has contributed to biomedical research on the mechanical pathways of the diseases. In an era with dramatic development of brand new strategies, the conventional evaluation of family aggregation, environmental exposure and clinical phenotype remains of great importance to promote genomic research. Notwithstanding the promising progress in genomic research, we still have an enormous number of issues to overcome before approaching the ultimate goal of human genomics: the successful application of genomic data to personalized medicine. (Circ J 2013; 77: 876 -885)

A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese

“…Further studies are warranted to clarify the functional roles of these loci and genes in the pathogenesis of MI, providing a valuable starting point for novel biomedical research. 37 In conclusion, we performed a large-scale genomic analysis and identified PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for MI in the Japanese population. Our findings will add novel findings for MI susceptibility loci.…”

Etiology of Valvular Heart Disease

“…As expected, identification of genes important for valve morphogenesis has assisted in the discovery of genes responsible for congenital valve malformations, and will accelerate gene discovery in the future. 76 Ultimately, this increased understanding will affect the long-term morbidities associated with common forms of VHD, including BAV and MVP. Specifically, the importance of Tgfβ signaling in MVP offers a therapeutic target to halt the progression of disease, as has been demonstrated for ascending aortic aneurysms in MFS.…”

Can Next-Generation Sequencing Replace Sanger Sequencing for Screening Genetic Variants?

“…In contrast to Sanger sequencing, NGS has enabled handling of huge genomic data in a very short amount of time. To date, NGS has become widely used for genome-wide association study, whole-exome and whole-genome sequencing, 8 and the number of projects using NGS has been steadily increasing. NGS is no longer "next" generation, but "now" generation sequencing.…”