Rare variants and cardiovascular disease

Area of Science:

• Genetics
• Cardiology
• Genomics

Background:

• Cardiovascular disease (CVD) is a major cause of death and illness globally.
• Genome-wide association studies (GWASs) have identified common genetic variants associated with CVD and its risk factors, but explain little phenotypic variance.
• Studies of monogenic cardiovascular diseases (CVDs) have identified genes crucial to disease etiology.

Purpose of the Study:

• To review how findings from rare variant studies in monogenic CVDs and GWASs of common variants are converging.
• To provide further insight into the biological mechanisms underlying cardiovascular disease.

Main Methods:

• Review of existing literature on genetic studies of cardiovascular disease.
• Analysis of findings from genome-wide association studies (GWASs) of common variants.
• Examination of studies on rare variants in monogenic cardiovascular diseases.

Main Results:

• Common variants identified through GWASs explain a small proportion of CVD phenotypic variance.
• Rare variants are hypothesized to contribute to the missing heritability in CVD.
• Studies of monogenic CVDs have successfully identified key genes involved in disease etiology.

Conclusions:

• Converging evidence from rare variant and common variant studies offers deeper insights into CVD mechanisms.
• Understanding both common and rare genetic variations is crucial for elucidating cardiovascular disease etiology.
• Future research on rare variants in cardiovascular traits is warranted.