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

Osman Ozdemir1, Rana Olgunturk, Kadri Karaer

  • 1Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ardahan Sokak No. 1, Kecioren, Ankara, Turkey. pedkard@gmail.com

Cardiology in the Young
|March 5, 2010
PubMed

Insights

The fibrillin-1 gene intron 56 G-allele may increase the risk of mitral valve prolapse in Turkish children. Mitral valve prolapse patients showed higher frequencies of specific fibrillin-1 gene genotypes.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Pediatrics

Background:

  • Mitral valve prolapse is a common childhood heart valve anomaly.
  • Fibrillin, a key component of microfibrils, is present in the mitral valve.
  • The role of genetic variations in mitral valve prolapse is an area of ongoing research.

Purpose of the Study:

  • To investigate the association between fibrillin-1 gene intron 56 polymorphism and mitral valve prolapse risk in Turkish children.
  • To determine if specific genotypes or alleles of the fibrillin-1 gene are linked to mitral valve prolapse.

Main Methods:

  • A case-controlled study involving 77 children with mitral valve prolapse and 89 healthy controls.
  • Diagnosis of mitral valve prolapse confirmed by clinical evaluation and echocardiography.
  • Fibrillin-1 gene intron 56 polymorphism analyzed using polymerase chain reaction-based restriction analysis.

Main Results:

  • Significant differences in fibrillin-1 gene intron 56 genotype distribution (p = 0.0001) and allelic frequency (p = 0.0001) were observed between cases and controls.
  • Mitral valve prolapse patients exhibited higher frequencies of the GC genotype.
  • Healthy children showed a higher prevalence of the CC genotype.

Conclusions:

  • The fibrillin-1 gene intron 56 GC genotype is more frequent in children with mitral valve prolapse.
  • The fibrillin-1 gene intron 56 CC genotype is more common in healthy children.
  • A higher frequency of the fibrillin-1 gene intron 56 G-allele is speculated to increase the risk of developing mitral valve prolapse.
Abstract

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