Trial reportHuman genetics2008
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.
Trial report in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 60 citations in OpenAlex.
- 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
- Article
- Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.Journal of human genetics · 2023Article
- Conservative Otosclerosis Treatment With Sodium Fluoride and Other Modern Formulations: A Systematic Review.Cureus · 2023Review
- Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.Journal of clinical medicine · 2022Article
- Genetics of otosclerosis: finally catching up with other complex traits?Human genetics · 2022Review
- A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.Human genetics · 2022Article
- A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.Human genetics · 2022Article
- Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2021Article
- Review
- Insufficient evidence for a role of SERPINF1 in otosclerosis.Molecular genetics and genomics : MGG · 2019Article
- Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.Human molecular genetics · 2016Article
- Identification of target proteins involved in cochlear otosclerosis.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2015Article
- Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2014Article
- Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
- The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2013Article
- Detection of otosclerosis-specific measles virus receptor (cd46) protein isoforms.ISRN otolaryngology · 2013Article
- Cochlear otosclerosis.Current opinion in otolaryngology & head and neck surgery · 2010Review
- Etiopathogenesis of otosclerosis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2010Review
- Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2.Genes and immunity · 2010Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.