Human genetics and its impact on cardiovascular disease

Cardiovascular disease (CVD) is a major cause of death worldwide. Given that CVD is a highly heritable trait, researchers have attempted to fully understand the genetic basis of CVD for a long time. The human genome comprises 3,100 Mbp per haploid genome and 6,200 Mbp in total (diploid genome). However, there is a tendency for rare genetic variations to exhibit a large effect size, whereas common genetic variations have a small effect on diseases, because of natural selection. In this sense, dividing genetic variations into two groups based on allele frequency (and effect sizes on diseases) is a good idea. We know there are several important genes (especially lipid-related genes) in which rare genetic variations are apparently associated with CVD risk, while a polygenic risk score comprising common genetic variations appears to work quite well among general populations. That information can be used not only for risk stratification but also for discoveries for novel pharmacologic targets. In this review article, we provide the important and simple idea that human genetics is important for CVD because it is a highly heritable trait, and we believe that it will lead to precision medicine in this field.