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Nature Research, Nature Genetics, 2(41), p. 187-191, 2009

DOI: 10.1038/ng.309

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A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

Journal article published in 2009 by Perundurai S. Dhandapany, Sakthivel Sadayappan ORCID, Yali Xue, Gareth T. Powell, Deepa Selvi Rani, Prathiba Nallari, Taranjit Singh Rai ORCID, Madhu Khullar, Pedro Soares, Ajay Bahl, Jagan Mohan Tharkan, Pradeep Vaideeswar, Andiappan Rathinavel, Calambur Narasimhan, Dharma Rakshak Ayapati and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown. Cardiomyopathies due to sarcomeric mutations are a major monogenic cause for heart failure (MIM600958). Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations (initial study OR = 5.3 (95% CI = 2.3-13), P = 2 x 10(-6); replication study OR = 8.59 (3.19-25.05), P = 3 x 10(-8); combined OR = 6.99 (3.68-13.57), P = 4 x 10(-11)) and that disrupts cardiomyocyte structure in vitro. Its prevalence was found to be high (approximately 4%) in populations of Indian subcontinental ancestry. The finding of a common risk factor implicated in South Asian subjects with cardiomyopathy will help in identifying and counseling individuals predisposed to cardiac diseases in this region.