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A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
Open accessAbstract
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.
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Metadata
- Authors
- 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., Price, A. L., Patterson, N., Reich, D., Singh, L., Tyler-Smith, C., & Thangaraj, K.
- Venue
- Nature Genetics
- Published
- 2009-01-18
- Volume
- 41
- Issue
- 2
- Pages
- 187-191
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2098450085
- Cited by
- 286
- References
- 24
- FWCI
- 17.20
- Type
- journal article
- Language
- en
- Open access
- green
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