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 journalLetterpeer-review

216 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 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.

Original languageEnglish
Pages (from-to)187-91
Number of pages5
JournalNature Genetics
Issue number2
Publication statusPublished - Feb 2009
Externally publishedYes


  • Asia
  • Autopsy
  • Base Sequence
  • Cardiomyopathies
  • Carrier Proteins
  • Case-Control Studies
  • Cohort Studies
  • DNA Mutational Analysis
  • Gene Frequency
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Geography
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic


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