title: A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.
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.affiliation: Department of Biochemistry, Madurai Kamaraj University, Madurai 625 021, India.
authors.forename: Perundurai S
authors.initials: PS
authors.lastname: Dhandapany
authors.forename: Sakthivel
authors.initials: S
authors.lastname: Sadayappan
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.forename: Gareth T
authors.initials: GT
authors.lastname: Powell
authors.forename: Deepa Selvi
authors.initials: DS
authors.lastname: Rani
authors.forename: Prathiba
authors.initials: P
authors.lastname: Nallari
authors.forename: Taranjit Singh
authors.initials: TS
authors.lastname: Rai
authors.forename: Madhu
authors.initials: M
authors.lastname: Khullar
authors.forename: Pedro
authors.initials: P
authors.lastname: Soares
authors.forename: Ajay
authors.initials: A
authors.lastname: Bahl
authors.forename: Jagan Mohan
authors.initials: JM
authors.lastname: Tharkan
authors.forename: Pradeep
authors.initials: P
authors.lastname: Vaideeswar
authors.forename: Andiappan
authors.initials: A
authors.lastname: Rathinavel
authors.forename: Calambur
authors.initials: C
authors.lastname: Narasimhan
authors.forename: Dharma Rakshak
authors.initials: DR
authors.lastname: Ayapati
authors.forename: Qasim
authors.initials: Q
authors.lastname: Ayub
authors.forename: S Qasim
authors.initials: SQ
authors.lastname: Mehdi
authors.forename: Stephen
authors.initials: S
authors.lastname: Oppenheimer
authors.forename: Martin B
authors.initials: MB
authors.lastname: Richards
authors.forename: Alkes L
authors.initials: AL
authors.lastname: Price
authors.forename: Nick
authors.initials: N
authors.lastname: Patterson
authors.forename: David
authors.initials: D
authors.lastname: Reich
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D001208:Asia; D001344:Autopsy; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D016022:Case-Control Studies; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005843:Geography; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000502:physiology; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C