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A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
Nat Genet. 2009 Feb; 41(2):187-91.NGen

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.

Authors+Show Affiliations

Department of Biochemistry, Madurai Kamaraj University, Madurai 625 021, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19151713

Citation

Dhandapany, Perundurai S., et al. "A Common MYBPC3 (cardiac Myosin Binding Protein C) Variant Associated With Cardiomyopathies in South Asia." Nature Genetics, vol. 41, no. 2, 2009, pp. 187-91.
Dhandapany PS, Sadayappan S, Xue Y, et al. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 2009;41(2):187-91.
Dhandapany, P. S., Sadayappan, S., Xue, Y., Powell, G. T., Rani, D. S., Nallari, P., Rai, T. S., Khullar, M., Soares, P., Bahl, A., Tharkan, J. M., Vaideeswar, P., Rathinavel, A., Narasimhan, C., Ayapati, D. R., Ayub, Q., Mehdi, S. Q., Oppenheimer, S., Richards, M. B., ... Thangaraj, K. (2009). A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics, 41(2), 187-91. https://doi.org/10.1038/ng.309
Dhandapany PS, et al. A Common MYBPC3 (cardiac Myosin Binding Protein C) Variant Associated With Cardiomyopathies in South Asia. Nat Genet. 2009;41(2):187-91. PubMed PMID: 19151713.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. AU - Dhandapany,Perundurai S, AU - Sadayappan,Sakthivel, AU - Xue,Yali, AU - Powell,Gareth T, AU - Rani,Deepa Selvi, AU - Nallari,Prathiba, AU - Rai,Taranjit Singh, AU - Khullar,Madhu, AU - Soares,Pedro, AU - Bahl,Ajay, AU - Tharkan,Jagan Mohan, AU - Vaideeswar,Pradeep, AU - Rathinavel,Andiappan, AU - Narasimhan,Calambur, AU - Ayapati,Dharma Rakshak, AU - Ayub,Qasim, AU - Mehdi,S Qasim, AU - Oppenheimer,Stephen, AU - Richards,Martin B, AU - Price,Alkes L, AU - Patterson,Nick, AU - Reich,David, AU - Singh,Lalji, AU - Tyler-Smith,Chris, AU - Thangaraj,Kumarasamy, Y1 - 2009/01/18/ PY - 2008/07/07/received PY - 2008/11/03/accepted PY - 2009/1/20/entrez PY - 2009/1/20/pubmed PY - 2009/2/14/medline SP - 187 EP - 91 JF - Nature genetics JO - Nat Genet VL - 41 IS - 2 N2 - 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. SN - 1546-1718 UR - https://www.unboundmedicine.com/medline/citation/19151713/A_common_MYBPC3__cardiac_myosin_binding_protein_C__variant_associated_with_cardiomyopathies_in_South_Asia_ L2 - https://doi.org/10.1038/ng.309 DB - PRIME DP - Unbound Medicine ER -