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.
These high-quality studies show that otosclerosis in Japanese patients is not linked to the NOG gene and that a polymorphism in the Sp1 binding site located on the COL1A1 gene is associated with otosclerosis as well as OTSC1.
In aggregate, our analysis supports evidence for an association between COL1A1 and otosclerosis although effect sizes of the variants reported in the initial studies are likely to be an overestimate of true effect sizes.
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.
Of the same 2 cases of otosclerosis that demonstrated evidence of null expression by gel electrophoresis, both were found to have significant differences in COL1A1 mRNA expression by the Taqman analysis.
It is surprising that no association was found between RELN and otosclerosis because the current analysis had very reasonable power and the RELN association has been published before in different articles using several independent populations.
To analyze the role of reelin in otosclerosis, it has been studied in a case-control analysis for the polymorphism rs39335 in a southern Italy population.
No significant difference was noted in miRNAs expression associated with ACE, RELN, COL1A1, and COL1A2 genes which were previously correlated with otosclerosis.