What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

摘要

Purpose of reviewRare variant association studies (RVAS) target the class of genetic variation with frequencies less than 1%. Recently, investigators have used exome sequencing in RVAS to identify rare alleles responsible for Mendelian diseases but have experienced greater difficulty discovering such alleles for complex diseases. In this review, we describe what we have learned about lipoprotein metabolism and coronary heart disease (CHD) through the conduct of RVAS.