Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse

Ozdemir O., Olgunturk R., Karaer K., ERGÜN M. A. , TUNAOĞLU F. S. , KULA S. , ...More

CARDIOLOGY IN THE YOUNG, vol.20, no.2, pp.173-177, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.1017/s1047951109991284
  • Title of Journal : CARDIOLOGY IN THE YOUNG
  • Page Numbers: pp.173-177


Objective: Mitral valvar prolapse is the most common anomaly of the mitral valve apparatus throughout childhood. Fibrillin is one of the structural components of the elastin-associated microfibrils found in the mitral valve. A case-controlled study has performed to investigate the relationship between fibrillin 1 gene intron 56 polymorphism and risk of mitral valvar prolapse in Turkish children. Patients and methods: A total of 77 patients with mitral valvar prolapse diagnosed by clinical evaluation and echocardiography and 89 normal children of same age and sex were studied. The fibrillin-1 gene intron 56 polymorphism was identified by the polymerase chain reaction-based restriction analysis. Results: There was a significant difference in the distribution of fibrillin-1 gene intron 56 genotypes (p = 0.0001) and allelic frequency (p = 0.0001.) between the cases and the controls. Conclusions: Patients with mitral valvar prolapse have higher frequencies fibrillin-1 gene intron 56 GC genotypes. Healthy children have higher frequencies of fibrillin-1 gene intron 56 CC genotypes. We speculate that the higher frequency of fibrillin-1 gene intron 56 G-allele increases the risk of mitral valvar prolapse.