NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis


The minor NOS1AP alleles are associated with NOS1 loss of function. The latter likely contributes to APD prolongation in LQT1 and converges with it to perturb Ca2+ handling. This establishes a mechanistic link between NOS1AP SNPs and aggravation of the arrhythmia phenotype in prolonged repolarization syndromes. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2020. For permissions, please email:

Authors Ronchi C, Bernardi J, Mura M, Stefanello M, Badone B, Rocchetti M, Crotti L, Brink P, Schwartz PJ, Gnecchi M, Zaza A
Journal Cardiovascular research
Publication Date 2021 Jan 21;117(2):472-483
PubMed 32061134
PubMed Central PMC7820868
DOI 10.1093/cvr/cvaa036

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