Rare-variant collapsing analyses reveal novel risk genes for arterial and venous cardiovascular diseases in the UK biobank

Cardiovascular diseases (CVDs) are a major cause of mortality [1,2]. Genome wide association studies (GWAS) have identified CVD linked variants but there is still missing heritability for common CVDs [2,3]. Whole exome sequencing (WES) studies may reveal the contribution of rare variants to common diseases [2,3]. However, few large-scale WES studies have been published until Wang et al. reported the relationships between rare protein-coding variants and 17,361 binary phenotypes using WES data from 269,171 UK Biobank participants (https://azphewas.com/) [4].

Source: Thrombosis Research - July 3, 2023 Category: Hematology Authors: Bengt Z öller, Eric Manderstedt, Christina Lind-Halldén, Christer Halldén Tags: Letter to the Editors-in-Chief Source Type: research