1. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
- Author
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Dhandapany, Perundurai S., Sadayappan, Sakthivel, Yali Xue, Powell, Gareth T., Rani, Deepa Selvi, Nallari, Prathiba, Rai, Taranjit Singh, Khullar, Madhu, Soares, Pedro, Bahl, Ajay, Tharkan, Jagan Mohan, Vaideeswar, Pradeep, Rathinavel, Andiappan, Narasimhan, Calambur, Ayapati, Dharma Rakshak, Ayub, Qasim, Mehdi, S. Qasim, Oppenheimer, Stephen, Richards, Martin B., and Price, Alkes L.
- Subjects
HEART failure ,HEART diseases ,MORTALITY ,PROTEIN C ,ETIOLOGY of diseases ,GENETICS - 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 × 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. [ABSTRACT FROM AUTHOR]- Published
- 2009
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