Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis.
OBJECTIVE
There is an association between otosclerosis and osteoporosis.


BACKGROUND
Both osteoporosis and otosclerosis are common bone diseases to which relatively large portions of the population are genetically predisposed. Recently, a strong association has been described between osteoporosis and an Sp1 binding site of putative functional significance in the first intron of the COL1A1 gene.


METHODS
We applied polymerase chain reaction-based restriction enzyme analysis to determine the polymorphic distribution of the Sp1 site in 100 patients with otosclerosis and 108 control subjects.


RESULTS
This study showed a significant association between otosclerosis and the COL1A1 first intron Sp1 site. The allelic frequency of the Sp1 site is very similar between otosclerosis and osteoporosis.


CONCLUSIONS
Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.
McKenna
Michael J
MJ
Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts, USA.
Nguyen-Huynh
Anh T
AT
Kristiansen
Arthur G
AG
D000368:Aged; D000369:Aged, 80 and over; D001665:Binding Sites; D015519:Bone Density; D016022:Case-Control Studies; D024042:Collagen Type I / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D000090602:Collagen Type I, alpha 1 Chain; D006801:Humans; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics*; D010040:Otosclerosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D015183:Restriction Mapping; D016329:Sp1 Transcription Factor / Q000737:chemistry / Q000235:genetics*
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D016329:Sp1 Transcription Factor