Chromatin Accessibility of human mitral valves and functional assessment of MVP Risk Loci

rs6723013 is a potential causal variant at IGFBP5/TNS1 MVP-associated locus

WHAT IS KNOWN?

  1. Mitral valve prolapse (MVP) is a common valvopathy that can lead to heart failure and sudden death. However, the causes of MVP development are still poorly understood.
  2. Functional genomic studies are needed to better characterize MVP associated variants and target genes

WHAT DOES THIS STUDY ADD?

  1. We used ATAC-Seq (assay for transposes-accessible chromatin using sequencing) genomic annotation technique in combination with 4C-Seq (circular chromosome conformation capture, coupled to high-throughput sequencing), to describe unprecedented genome-wide chromatin profiles from human pathogenic and non-pathogenic mitral valves.
  2. The experiments also provided evidence for plausible causal variants for rs2641440 at SMG6/SRR locus and rs6723013 at IGFBP2/IGFBP5/TNS1 locus. In addition, we also identified several target genes including SRR, HIC1, and DPH1 at SMG6/SRR locus.

LINK TO THE ARTICLE

Kyryachenko S, Georges A, Yu M, Berrandou T, Guo L, Bruneval P, Rubio T, Gronwald J, Baraki H, Kutschka I, Aras K, Efimov IR, Norris RA, Voigt N, Bouatia-Naji N. Chromatin Accessibility of Human Mitral Valves and Functional Assessment of MVP Risk Loci. Circ Res. 2021 Jan 28;. doi: 10.1161/CIRCRESAHA.120.317581. [Epub ahead of print] PubMed PMID: 33508947.