Why the study?
Mitral valve prolapse is a common valvopathy leading to mitral insufficiency, heart failure, and sudden death, but functional genomic studies in mitral valves are needed to characterize MVP-associated variants and target genes.
This study provides unprecedented genome-wide open chromatin profiles of human mitral valves to help identify causal variants and target genes underlying mitral valve prolapse.
Provides valve chromatin maps for MVP loci; hypothesis-generating and should not yet alter practice.
RATIONALE: Mitral valve prolapse (MVP) is a common valvopathy that leads to mitral insufficiency, heart failure, and sudden death. Functional genomic studies in mitral valves are needed to better characterize MVP-associated variants and target genes. OBJECTIVE: To establish the chromatin accessibility profiles and assess functionality of variants and narrow down target genes at MVP loci. METHODS AND RESULTS: as the most likely target gene on chromosome 2. CONCLUSIONS: Here, we describe unprecedented genome-wide open chromatin profiles from human pathogenic and nonpathogenic MVs and report specific gene regulation profiles, compared with the heart. We also report in vitro functional evidence for potential causal variants and target genes at MVP risk loci involving established and new biological mechanisms. Graphic Abstract: A graphic abstract is available for this article.
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Kyryachenko et al. (2021) studied this question.
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