Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.

ABSTRACT:

Aims

Although highly heritable, the genetic etiology of calcific aortic stenosis (AS) remains incompletely understood. The aim of this study was to discover novel genetic contributors to AS and to integrate functional, expression, and cross-phenotype data to identify mechanisms of AS.

Methods and results

A genome-wide meta-analysis of 11.6 million variants in 10 cohorts involving 653 867 European ancestry participants (13 765 cases) was performed. Seventeen loci were associated with AS at P ≤ 5 × 10-8, of which 15 replicated in an independent cohort of 90 828 participants (7111 cases), including CELSR2-SORT1, NLRP6, and SMC2. A genetic risk score comprised of the index variants was associated with AS [odds ratio (OR) per standard deviation, 1.31; 95% confidence interval (CI)

SUBMITTER: Yu Chen H 

PROVIDER: S-EPMC10232274 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature