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

Perundurai S. Dhandapany, Sakthivel Sadayappan, Yali Xue, Gareth T. Powell, Deepa Selvi Rani, Prathiba Nallari, Taranjit Singh Rai, Madhu Khullar, Pedro Soares, Ajay Bahl, Jagan Mohan Tharkan, Pradeep Vaideeswar, Andiappan Rathinavel, Calambur Narasimhan, Dharma Rakshak Ayapati, Qasim Ayub, S. Qasim Mehdi, Stephen Oppenheimer, Martin B. Richards, Alkes L. PriceNick Patterson, David Reich, Lalji Singh, Chris Tyler-Smith, Kumarasamy Thangaraj

Research output: Contribution to journalArticlepeer-review

237 Citations (Scopus)


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 × 10-6; replication study OR = 8.59 (3.19-25.05), P = 3 × 10-8; combined OR = 6.99 (3.68-13.57), P = 4 × 10-11) and that disrupts cardiomyocyte structure in vitro. Its prevalence was found to be high (∼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.

Original languageEnglish
Pages (from-to)187-191
Number of pages5
JournalNature Genetics
Issue number2
Early online date18 Jan 2009
Publication statusPublished - Feb 2009
Externally publishedYes


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