4.8 Article

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja Kurki et al.

Summary: Population isolates, like those in Finland, provide valuable insights for genetic research due to the concentration of deleterious alleles in low-frequency variants. FinnGen aims to study the genome and health data of 500,000 Finnish individuals, enabling the identification of new associations and the exploration of their implications for common diseases. The study identified 30 new associations and 2,733 genome-wide significant associations, highlighting the power of bottlenecked populations in uncovering disease biology.

NATURE (2023)

Article Genetics & Heredity

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

Nelly Abdelfatah et al.

Summary: Otosclerosis is a common form of late-onset hearing impairment with little known about its pathogenesis. A new study identified a FOXL1 gene mutation as a potential cause of autosomal dominant otosclerosis, providing new insights for therapeutic interventions.

HUMAN GENETICS (2022)

Article Genetics & Heredity

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Allan Thomas Hojland et al.

Summary: This study identified significant associations between ACAN gene variants and otosclerosis risk, with multiple independent signals. The variants include both predisposing and protective alleles, spanning different populations. Exonic variants in the ACAN gene are mainly located in the CS domain, with a wide range of effect sizes and population frequencies.

HUMAN GENETICS (2022)

Article Endocrinology & Metabolism

Postnatal expression and possible function of RANK and RANKL in the murine inner ear

Shyan-Yuan Kao et al.

Summary: The study demonstrates that RANK and RANKL inhibit neurite outgrowth in cochlear neurons in mice, in addition to regulating otic capsule bone remodeling.
Article Biochemical Research Methods

LocusZoom.js: interactive and embeddable visualization of genetic association study results

Andrew P. Boughton et al.

Summary: LocusZoom.js is a JavaScript library for creating interactive web-based visualizations of genetic association study results. It allows for the display of traits, refinement of analysis models, and customization to show other data types. Additionally, it provides a new upload service for harmonizing datasets, adding annotations, and aiding in user exploration of result sets.

BIOINFORMATICS (2021)

Article Genetics & Heredity

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease

Pyry Helkkula et al.

Summary: Protein-truncating variants (PTVs) that impact dyslipidemia risk may indicate therapeutic targets for cardiometabolic disease. By studying the genetic associations between lipid levels and the risks of CAD or T2D, researchers identified two PTVs in ANGPTL4 and ANGPTL8 that were associated with lower disease risks and lipid levels in the Finnish population.

PLOS GENETICS (2021)

Article Genetics & Heredity

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

Nurlan Kerimov et al.

Summary: The study presents a resource of quality-controlled gene expression and splicing QTLs from 21 studies, demonstrating highly reproducible eQTL effect sizes for matching cell types and tissues. It also identified a greater diversity of cell-type-specific QTLs, some of which manifested as new disease co-localizations. The summary statistics provided are freely available for systematic interpretation of human GWAS associations across various cell types and tissues.

NATURE GENETICS (2021)

Article Anatomy & Morphology

TGF β-1 and WNT Signaling Pathways Collaboration Associated with Cochlear Implantation Trauma-Induced Fibrosis

Esperanza Bas et al.

ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Statistics & Probability

A simple new approach to variable selection in regression, with application to genetic fine mapping

Gao Wang et al.

JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY (2020)

Article Multidisciplinary Sciences

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Cristopher V. Van Hout et al.

NATURE (2020)

Article Multidisciplinary Sciences

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Ida Surakka et al.

NATURE COMMUNICATIONS (2020)

Article Biochemistry & Molecular Biology

ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci

David Stacey et al.

NUCLEIC ACIDS RESEARCH (2019)

Review Biochemistry & Molecular Biology

Regulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2

Toshihisa Komori

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Biochemistry & Molecular Biology

Insufficient evidence for a role of SERPINF1 in otosclerosis

Hanne Valgaeren et al.

MOLECULAR GENETICS AND GENOMICS (2019)

Article Multidisciplinary Sciences

Proteome of normal human perilymph and perilymph from people with disabling vertigo

Hsiao-Chun Lin et al.

PLOS ONE (2019)

Article Genetics & Heredity

SumHer better estimates the SNP heritability of complex traits from summary statistics

Doug Speed et al.

NATURE GENETICS (2019)

Article Otorhinolaryngology

Otosclerosis Temporal Bone Pathology

Alicia M. Quesnel et al.

OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA (2018)

Article Otorhinolaryngology

Otosclerosis From Genetics to Molecular Biology

Thomas A. Babcock et al.

OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA (2018)

Article Multidisciplinary Sciences

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft et al.

NATURE (2018)

Article Multidisciplinary Sciences

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Michael R. Bowl et al.

NATURE COMMUNICATIONS (2017)

Article Genetics & Heredity

Colocalization of GWAS and eQTL Signals Detects Target Genes

Farhad Hormozdiari et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson et al.

NATURE (2016)

Article Genetics & Heredity

Reference-based phasing using the Haplotype Reference Consortium panel

Po-Ru Loh et al.

NATURE GENETICS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Review Audiology & Speech-Language Pathology

The pathophysiology of otosclerosis: Review of current research

M. Rudic et al.

HEARING RESEARCH (2015)

Review Biochemistry & Molecular Biology

Latent TGF-β-binding proteins

Ian B. Robertson et al.

MATRIX BIOLOGY (2015)

Article Genetics & Heredity

An atlas of genetic correlations across human diseases and traits

Brendan Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Genetics & Heredity

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan K. Bulik-Sullivan et al.

NATURE GENETICS (2015)

Article Biochemical Research Methods

MAGMA: Generalized Gene-Set Analysis of GWAS Data

Christiaan A. de Leeuw et al.

PLOS COMPUTATIONAL BIOLOGY (2015)

Article Biochemistry & Molecular Biology

The Molecular Signatures Database Hallmark Gene Set Collection

Arthur Liberzon et al.

CELL SYSTEMS (2015)

Review Health Care Sciences & Services

Linking a Population Biobank with National Health Registries-The Estonian Experience

Liis Leitsalu et al.

JOURNAL OF PERSONALIZED MEDICINE (2015)

Review Medicine, Research & Experimental

Bone marrow mesenchymal stem cells and TGF-β signaling in bone remodeling

Janet L. Crane et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Review Otorhinolaryngology

An Introduction of Genetics in Otosclerosis: A Systematic Review

Arnold J. N. Bittermann et al.

OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2014)

Article Endocrinology & Metabolism

Genetic Association and Gene Expression Profiles of TGFB1 and the Contribution of TGFB1 to Otosclerosis Susceptibility

Saurabh Priyadarshi et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2013)

Article Genetics & Heredity

COL1A1 association and otosclerosis: A meta-analysis

Isabelle Schrauwen et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Genetics & Heredity

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome

Ingrid M. B. H. van de Laar et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Genetics & Heredity

Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population

Ayda Khalfallah et al.

ANNALS OF HUMAN GENETICS (2011)

Article Biochemical Research Methods

GWAMA: software for genome-wide association meta-analysis

Reedik Magi et al.

BMC BIOINFORMATICS (2010)

Article Audiology & Speech-Language Pathology

Differences in gene expression between the otic capsule and other bones

Konstantina M. Stankovic et al.

HEARING RESEARCH (2010)

Article Multidisciplinary Sciences

Integrating common and rare genetic variation in diverse human populations

David M. Altshuler et al.

NATURE (2010)

Article Genetics & Heredity

A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis

Isabelle Schrauwen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

Detection of Rare Nonsynonymous Variants in TGFB1 in Otosclerosis Patients

M. Thys et al.

ANNALS OF HUMAN GENETICS (2009)

Article Multidisciplinary Sciences

Type IV collagens regulate BMP signalling in Drosophila

Xiaomeng Wang et al.

NATURE (2008)

Article Biochemistry & Molecular Biology

BMP type I receptor inhibition reduces heterotopic ossification

Paul B. Yu et al.

NATURE MEDICINE (2008)

Article Endocrinology & Metabolism

Association of bone morphogenetic proteins with otosclerosis

Isabelle Schrauwen et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2008)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Review Otorhinolaryngology

A review on the genetics of otosclerosis

I. Moumoulidis et al.

CLINICAL OTOLARYNGOLOGY (2007)

Article Genetics & Heredity

Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7

Robert Jan Pauw et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Dentistry, Oral Surgery & Medicine

MEPE expression in osteocytes during orthodontic tooth movement

J. Gluhak-Heinrich et al.

ARCHIVES OF ORAL BIOLOGY (2007)

Article Otorhinolaryngology

Distribution of type IV collagen in the cochlea in Alport syndrome

AF Zehnder et al.

ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2005)

Article Medicine, Research & Experimental

Osteoprotegerin in the inner ear may inhibit bone remodeling in the otic capsule

AF Zehnder et al.

LARYNGOSCOPE (2005)

Article Medicine, Research & Experimental

Temporal bone histopathology in Alport syndrome

SN Merchant et al.

LARYNGOSCOPE (2004)

Article Biochemistry & Molecular Biology

The inhibition of calcium phosphate precipitation by fetuin is accompanied by the formation of a fetuin-mineral complex

PA Price et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Structural basis of calcification inhibition by α2-HS glycoprotein/fetuin-A -: Formation of colloidal calciprotein particles

A Heiss et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Medicine, Research & Experimental

Stapedectomy versus stapedotomy: Comparison of results with long-term follow-up

HP House et al.

LARYNGOSCOPE (2002)

Article Clinical Neurology

Prevalence of otosclerosis in an unselected series of temporal bones

F Declau et al.

OTOLOGY & NEUROTOLOGY (2001)

Article Genetics & Heredity

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

A Kinoshita et al.

NATURE GENETICS (2000)

Article Otorhinolaryngology

Estimation of volume referent bone turnover in the otic capsule after sequential point labeling

T Frisch et al.

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2000)