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

Published online by Cambridge University Press:  04 March 2010

Osman Ozdemir ,
Rana Olgunturk ,
Kadri Karaer ,
Mehmet Ali Ergun ,
Fatma Sedef Tunaoglu ,
Serdar Kula  and
Ferda Emriye Percin
Osman Ozdemir*
Affiliation:
Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ankara, Turkey
Rana Olgunturk
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Kadri Karaer
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
Mehmet Ali Ergun
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
Fatma Sedef Tunaoglu
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Serdar Kula
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Ferda Emriye Percin
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
*
Correspondence to: Osman Ozdemir, Kecioren Egitim ve Arastirma Hastanesi, Sanatoryum Caddesi, Pinarbasi Mahallesi, Ardahan Sokak, No 1, Kecioren, Ankara, Turkey, 06280. Tel: +90 532 6281209; Fax: +90 312 3569002; E-mail: pedkard@gmail.com
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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.

Keywords

Fibrillinopathiesgenetic disorderscardiac valve diseases
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 2 , April 2010 , pp. 173 - 177
Copyright
Copyright © Cambridge University Press 2010

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Footnotes

*

There is no financial support or relationships that may pose conflict of interest.

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