期刊
NATURE GENETICS
卷 41, 期 2, 页码 187-191出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.309
关键词
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资金
- Council of Scientific and Industrial Research-Senior Research Fellowship (CSIR-SRF)
- Department of Biotechnology (DBT)
- Council of Scientific and Industrial Research (CSIR) Raman Research
- Senior Research Fellowship (SRF) from Indian Council of Medical Research (ICMR)
- Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh
- American Heart Association, Ohio Valley Affiliate, USA
- Burroughs Wellcome Career Development
Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown(1). 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 = 2 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 (similar to 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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