ArticleScientific reports2016
Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 10 citations in OpenAlex.
- Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nature communications · 2023Pooled it
- The risks of RELN polymorphisms and its expression in the development of otosclerosis.PloS one · 2022Pooled it
- Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2025Review
- Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.Journal of human genetics · 2023Article
- Genetics of otosclerosis: finally catching up with other complex traits?Human genetics · 2022Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation -832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we progressively screened this mutation in a cohort of 254 cases and 262 controls. The family members of the patient positive for -832G > A variation were also screened and found inheritance of this variation only to her daughter. Interestingly, this variation is associated with a decreased level of the TGFB1 transcript in the patient compared to her parents and controls. In silico analysis of this mutation predicted the altered binding of two transcription factors v-Myb and MZF1 in the mutated promoter sequence. Further, functional analysis of this mutation using in vitro luciferase and electrophoretic mobility shift assays revealed that this variation is associated with decreased gene expression. In conclusion, this study established the fact that TGFB1 mutation -832G > A altered the TGFB1 promoter activity, which could affect the susceptibility to otosclerosis development. Further, systemic analysis of TGFB1 gene sequence and expression analysis of this gene might reveal its precise role in the pathogenesis of otosclerosis.
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