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

Abstract

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 of 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.

• Authors: Osman Ozdemir, Rana Olgunturk, Kadri Karaer, Mehmet Ali Ergun, Fatma Sedef Tunaoglu, Serdar Kula, Ferda Emriye Percin
• Journal: Cardiology in the young (Cardiol Young) Vol. 20 Issue 2 Pg. 173-7 (Apr 2010) ISSN: 1467-1107 [Electronic] England
• PMID: 20199707 (Publication Type: Journal Article)

Chemical References

• Extracellular Matrix Proteins
• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins

Topics

• Child
• Extracellular Matrix Proteins (genetics)
• Female
• Fibrillin-1
• Fibrillins
• Gene Frequency
• Humans
• Male
• Microfilament Proteins (genetics)
• Mitral Valve Prolapse (diagnostic imaging, genetics)
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Restriction Mapping
• Turkey
• Ultrasonography