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


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.
Ozdemir
Osman
O
Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ardahan Sokak No. 1, Kecioren, Ankara, Turkey. pedkard@gmail.com
Olgunturk
Rana
R
Karaer
Kadri
K
Ergun
Mehmet Ali
MA
Tunaoglu
Fatma Sedef
FS
Kula
Serdar
S
Percin
Ferda Emriye
FE
D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D014421:Turkey; D014463:Ultrasonography; D054392:Adipokines
D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines