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      A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

      Nature genetics

      Asia, Autopsy, Base Sequence, Cardiomyopathies, genetics, pathology, Carrier Proteins, physiology, Case-Control Studies, Cohort Studies, DNA Mutational Analysis, Gene Frequency, Genetic Linkage, Genetic Predisposition to Disease, Geography, Humans, Molecular Sequence Data, Polymorphism, Genetic

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          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.

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          Journal
          19151713
          2697598
          10.1038/ng.309

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