Files and links (1)
Accepted (AM)Open Access (License Unspecified), Open
Journal article
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
Nature genetics, v 41(2), pp 187-191
01 Feb 2009
PMID: 19151713
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Metrics
Details
- Title
- A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
- Creators
- Kumarasamy Thangaraj - Centre for Cellular and Molecular BiologyPerundurai S Dhandapany - Madurai Kamaraj UniversitySakthivel Sadayappan - Cincinnati Children's Hospital Medical CenterYali Xue - Wellcome Sanger InstituteGareth T Powell - Wellcome Sanger InstituteDeepa Selvi Rani - Centre for Cellular and Molecular BiologyPrathiba Nallari - Osmania UniversityTaranjit Singh Rai - Post Graduate Institute of Medical Education and ResearchMadhu Khullar - Post Graduate Institute of Medical Education and ResearchPedro Soares - University of LeedsAjay Bahl - Post Graduate Institute of Medical Education and ResearchJagan Mohan Tharkan - Sree Chitra Thirunal Institute for Medical Sciences and TechnologyPradeep Vaideeswar - King Edward Memorial Hospital and Seth G.S. Medical CollegeAndiappan Rathinavel - Madurai Medical CollegeCalambur Narasimhan - CARE HospitalsDharma Rakshak Ayapati - Nizam's Institute of Medical SciencesQasim Ayub - University of KarachiS Qasim Mehdi - University of KarachiStephen Oppenheimer - University of OxfordMartin B Richards - University of LeedsAlkes L Price - Harvard University PressNick Patterson - Massachusetts Institute of TechnologyDavid Reich - Broad InstituteLalji Singh - Centre for Cellular and Molecular BiologyChris Tyler-Smith - Wellcome Sanger Institute
- Publication Details
- Nature genetics, v 41(2), pp 187-191
- Publisher
- Springer Nature
- Number of pages
- 5
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Surgery
- Web of Science ID
- WOS:000263091300018
- Scopus ID
- 2-s2.0-59149087665
- Other Identifier
- 991021959048504721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity