Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.

PLoS One 2011 7;6(9):e24123. Epub 2011 Sep 7.

Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow (UP), Lucknow, India.

Rationale: 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.

Methods And 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).

Conclusion: 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.

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Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0024123PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168477PMC
February 2012
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References

(Supplied by CrossRef)
Limited distribution of a cardiomyopathy-associated variant in India Ann Hum Genet
TS Simonson et al.
2010

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