title: 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.
  
  
  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.affiliation: Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ardahan Sokak No. 1, Kecioren, Ankara, Turkey. pedkard@gmail.com
authors.forename: Osman
authors.initials: O
authors.lastname: Ozdemir
authors.forename: Rana
authors.initials: R
authors.lastname: Olgunturk
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Ergun
authors.forename: Fatma Sedef
authors.initials: FS
authors.lastname: Tunaoglu
authors.forename: Serdar
authors.initials: S
authors.lastname: Kula
authors.forename: Ferda Emriye
authors.initials: FE
authors.lastname: Percin
mesh_terms: 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
chemical_list: D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines