Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.

ABSTRACT:

Aims

Mitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical therapy is available for this disease. We aimed to elucidate the genetic basis of MVP in order to better understand this complex disorder.

Methods and results

We performed a meta-analysis of six genome-wide association studies that included 4884 cases and 434 649 controls. We identified 14 loci associated with MVP in our primary analysis and 2 additional loci associated with a subset of the samples that additionally underwent mitral valve surgery. Integration of epigenetic, transcriptional, and proteomic data identified candidate MV

SUBMITTER: Roselli C 

PROVIDER: S-EPMC9649914 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature