title: Association of COL1A1 polymorphism in Turkish patients with otosclerosis.
abstract: OBJECTIVE
  To evaluate the role of COL1A1 gene polymorphism in the etiology of otosclerosis.
  
  
  METHODS
  Peripheric blood samples are obtained from 28 patients diagnosed with otosclerosis and 50 control subjects. DNA's of all samples are isolated and amplified by using the PCR technique. The products are restricted by appropriate enzymes and the allele distributions were compared.
  
  
  RESULTS
  SS (homozygous normal), Ss (heterozygous mutant) and ss (homozygous mutant) alleles of the otosclerotic and control subjects were significantly different from each other.
  
  
  CONCLUSIONS
  Otosclerosis is a disease with progressive hearing loss. There are viral, hormonal, immunologic and genetic hypothesis of etiology. In this study, we concluded that the polymorphism seen in the COL1A1 gene resulting in production of excessive type 1 collagen, could play a role in the pathogenesis of otosclerosis.
authors.affiliation: Zile State Hospital, Department of Otorhinolaryngology/Head and Neck Surgery, Tokat, Turkey. oertugay@yahoo.com
authors.forename: Omer Cagatay
authors.initials: OC
authors.lastname: Ertugay
authors.forename: Pinar
authors.initials: P
authors.lastname: Ata
authors.forename: Cigdem
authors.initials: C
authors.lastname: Kalaycik Ertugay
authors.forename: Kerem Sami
authors.initials: KS
authors.lastname: Kaya
authors.forename: Arzu
authors.initials: A
authors.lastname: Tatlipinar
authors.forename: Semra
authors.initials: S
authors.lastname: Kulekci
mesh_terms: D000328:Adult; D000483:Alleles; D024042:Collagen Type I / Q000235:genetics* / Q000378:metabolism; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010040:Otosclerosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA