Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis

Chignon, Arnaud; Rosa, Mickael; Boulanger, Marie-Chloé; Argaud, Déborah; Devillers, Romain; Bon-Baret, Valentin; Mkannez, Ghada; Li, Zhonglin; Rufiange, Anne; Gaudreault, Nathalie; Gosselin, David; Thériault, Sébastien; Bossé, Yohan; Mathieu, Patrick

doi:10.1016/j.isci.2021.102241

Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis

Summary Genome-wide association studies for calcific aortic valve stenosis (CAVS) previously reported strong signal for noncoding variants at 1p21.2. Previous study using Mendelian randomization suggested that the locus controls the expression of PALMD encoding Palmdelphin (PALMD). However, the m…