Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations

Isabelle Schrauwen; Megan Ealy; Erik Fransen; Kathleen Vanderstraeten; Melissa Thys; Nicole C Meyer; Marcel Cosgarea; Alex Huber; Manuela Mazzoli; Markus Pfister; Richard J H Smith; Guy Van Camp

doi:10.1007/s00439-009-0754-2

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Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations

Journal article

Peer reviewed

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations

Isabelle Schrauwen, Megan Ealy, Erik Fransen, Kathleen Vanderstraeten, Melissa Thys, Nicole C Meyer, Marcel Cosgarea, Alex Huber, Manuela Mazzoli, Markus Pfister, …

Human genetics, Vol.127(2), pp.155-162

02/2010

DOI: 10.1007/s00439-009-0754-2

PMID: 19847460

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Abstract

Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In a previous study, we identified a region on chr7q22.1 located in the RELN gene that is associated with otosclerosis in Belgian-Dutch and French populations. Evidence for allelic heterogeneity was found in this chromosomal region in the form of two independent signals. To confirm this finding, we have completed a replication study that includes four additional populations from Europe (1,141 total samples). Several SNPs in this region replicated in these populations separately. While the power to detect significant association in each population is small, when all four populations are combined, six of seven SNPs replicate and show an effect in the same direction as in the previous populations. We also confirmed the presence of allelic heterogeneity in this region. These data further implicate RELN in the pathogenesis of otosclerosis. Functional research is warranted to determine the pathways through which RELN acts in the pathogenesis of otosclerosis.

Meta-Analysis as Topic

Romania

Extracellular Matrix Proteins - genetics

Gene Frequency

Humans

Otosclerosis - diagnosis

Genotype

Logistic Models

Male

Nerve Tissue Proteins - genetics

Switzerland

Cell Adhesion Molecules, Neuronal - genetics

Genetic Heterogeneity

Linkage Disequilibrium

Serine Endopeptidases - genetics

Female

Italy

Otosclerosis - genetics

Polymorphism, Single Nucleotide

Germany

Hearing Tests

Details

Title: Subtitle: Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations
Creators: Isabelle Schrauwen - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. isabelle.schrauwen@ua.ac.be
Megan Ealy
Erik Fransen
Kathleen Vanderstraeten
Melissa Thys
Nicole C Meyer
Marcel Cosgarea
Alex Huber
Manuela Mazzoli
Markus Pfister
Richard J H Smith
Guy Van Camp
Resource Type: Journal article
Publication Details: Human genetics, Vol.127(2), pp.155-162
DOI: 10.1007/s00439-009-0754-2
PMID: 19847460
NLM abbreviation: Hum Genet
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Germany
Language: English
Date published: 02/2010
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006304002771

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