Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies

van der Voorn, Stephanie M; van Drie, Esmée; Proost, Virginnio; Dimitrova, Kristina; Netherlands ACM/PLN Registry; Ernst, Robert F; James, Cynthia A; Tichnell, Crystal; Murray, Brittney; Calkins, Hugh; Saguner, Ardan M; Duru, Firat; Ellinor, Patrick T; Bezzina, Connie R; Jurgens, Sean J; van Tintelen, J Peter; van Veen, Toon A B

doi:10.5167/uzh-257565

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van der Voorn, S. M., van Drie, E., Proost, V., Dimitrova, K., Netherlands ACM/PLN Registry, Ernst, R. F., James, C. A., Tichnell, C., Murray, B., Calkins, H., Saguner, A. M., Duru, F., Ellinor, P. T., Bezzina, C. R., Jurgens, S. J., van Tintelen, J. P., & van Veen, T. A. B. (2023). Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. International Journal of Molecular Sciences, 24, 15931. https://doi.org/10.3390/ijms242115931

Abstract

Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca$^{2+}$) is crucially important for proper cardiac function, and dysregulation of Ca$^{2+}$ homeostasis seems to underly cardiomyopathy etiology. A polymorphism, c.286T>G p.(Ser96Ala), in the gene encoding the histidine-rich Ca$^{2+}$ binding (HRC) protein, relevant for sarcoplasmic reticulum Ca$^{2+}$ cycling, has previously been associated with a marked increased risk of l