Dhandapany, Perundurai S. ; Sadayappan, Sakthivel ; Xue, Yali ; Powell, Gareth T. ; Rani, Deepa Selvi ; Nallari, Prathiba ; Rai, Taranjit Singh ; Khullar, Madhu ; Soares, Pedro ; Bahl, Ajay ; Tharkan8, Jagan Mohan ; Vaideeswar, Pradeep ; Rathinavel, Andiappan ; Narasimhan, Calambur ; Ayapati, Dharma Rakshak ; Ayub, Qasim ; Qasim Mehdi, S. ; Oppenheimer, Stephen ; Richards, Martin B. ; Price, Alkes L. ; Patterson, Nick ; Reich, David ; Singh, Lalji ; Tyler-Smith, Chris ; Thangaraj, Kumarasamy (2009) A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia Nature Genetics, 41 . pp. 187-191. ISSN 1061-4036
Full text not available from this repository.
Official URL: http://www.nature.com/ng/journal/v41/n2/abs/ng.309...
Related URL: http://dx.doi.org/10.1038/ng.309
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 |
|---|---|
| Source: | Copyright of this article belongs to Nature Publishing Group. |
| ID Code: | 51850 |
| Deposited On: | 30 Jul 2011 11:12 |
| Last Modified: | 30 Jul 2011 11:12 |
Repository Staff Only: item control page
