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

Dhandapany, Perundurai S, Sadayappan, Sakthivel, Xue, Yali, 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., Price, Alkes L, Patterson, Nick, Reich, David, Singh, Lalji, Tyler-Smith, Chris and Thangaraj, Kumarasamy (2009) A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics, 41 (2). pp. 187-191. ISSN 1061-4036

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Abstract

Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown1. 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.

Item Type: Article
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Depositing User: Sara Taylor
Date Deposited: 02 Aug 2012 15:06
Last Modified: 02 Aug 2012 15:06
URI: http://eprints.hud.ac.uk/id/eprint/14445

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