title: Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.
abstract: BACKGROUND
  Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. An intronic 25-bp deletion in MYBPC3 at 3' region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies in Southeast Asia. However, the frequency of MYBPC3 25 bp deletion and associated clinical presentation has not been established in an unrelated cohort of left ventricular dysfunction (LVD) secondary to coronary artery disease (CAD) patients.
  
  
  OBJECTIVE
  We sought to determine the role of MYBPC3 25 bp polymorphism on LVD in two cohorts of CAD patients.
  
  
  RESULTS
  The study included 265 consecutive patients with angiographically confirmed CAD and 220 controls. MYBPC3 25 bp polymorphism was determined by polymerase chain reaction. Our results showed that carrier status of MYBPC3 25 bp deletion was associated with significant compromised left ventricle ejection fraction (LVEF ≤45) in CAD patients (p value  =  <0.001; OR = 4.49). To validate our results, we performed a replication study in additional 140 cases with similar clinical characteristics and results again confirmed consistent findings (p = 0.029; OR = 3.3). Also, presence of the gene deletion did not have significant association in CAD patients with preserved ejection fraction (LVEF>45) (p value  = 0.1; OR  = 2.3).
  
  
  CONCLUSIONS
  The frequency of MYBPC3 DW genotype and D allele was associated with compromised LVEF implying that genetic variants of MYBPC3 encoding mutant structural sarcomere protein could increase susceptibility to left ventricular dysfunction. Therefore, 25 bp deletion in MYBPC3 may represent a genetic marker for cardiac failure in CAD patients from Southeast Asia.
authors.affiliation: Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow (UP), Lucknow, India.
authors.forename: Anshika
authors.initials: A
authors.lastname: Srivastava
authors.forename: Naveen
authors.initials: N
authors.lastname: Garg
authors.forename: Tulika
authors.initials: T
authors.lastname: Mittal
authors.forename: Roopali
authors.initials: R
authors.lastname: Khanna
authors.forename: Shipra
authors.initials: S
authors.lastname: Gupta
authors.forename: Prahlad Kishore
authors.initials: PK
authors.lastname: Seth
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion / Q000235:genetics*; D018487:Ventricular Dysfunction, Left / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C