Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.
OBJECTIVE
Otosclerosis is related to mild osteogenesis imperfecta with genetic defects in type I collagen.


BACKGROUND
Otosclerosis is a common bone disease of the human otic capsule that has an underlying hereditary predisposition. The histopathology and clinical manifestations are strikingly similar to the milder forms of osteogenesis imperfecta in which mutations of type I collagen genes have been established as the underlying cause.


METHODS
The authors investigated the genetic basis of otosclerosis by conducting an association study using polymorphic DNA markers from patients with clinical otosclerosis and random control subjects.


RESULTS
This study showed a significant association between clinical otosclerosis and the type I collagen COL1A1 gene using three different polymorphic markers within the gene.


CONCLUSIONS
Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele.
McKenna
M J
MJ
Department of Otology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114-3096, USA.
Kristiansen
A G
AG
Bartley
M L
ML
Rogus
J J
JJ
Haines
J L
JL
D000483:Alleles; D006239:Haplotypes; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010040:Otosclerosis / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics