| Literature DB >> 19151713 |
Perundurai S Dhandapany1, 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 Price, Nick Patterson, David Reich, Lalji Singh, Chris Tyler-Smith, Kumarasamy Thangaraj.
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 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.Entities:
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Year: 2009 PMID： 19151713 PMCID： PMC2697598 DOI： 10.1038/ng.309
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330