Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

Ayda Khalfallah; Isabelle Schrauwen; Malek Mnaja; Erik Fransen; Imed Lahmar; Megan Ealy; Leila Dhouib; Hammadi Ayadi; Ilhem Charfedine; Nabil Driss; Abdelmonem Ghorbel; Richard J H Smith; Saber Masmoudi; Guy Van Camp

doi:10.1111/j.1469-1809.2010.00595.x

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Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

Journal article

Peer reviewed

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

Ayda Khalfallah, Isabelle Schrauwen, Malek Mnaja, Erik Fransen, Imed Lahmar, Megan Ealy, Leila Dhouib, Hammadi Ayadi, Ilhem Charfedine, Nabil Driss, …

Annals of human genetics, Vol.74(5), pp.399-405

09/01/2010

DOI: 10.1111/j.1469-1809.2010.00595.x

PMID: 20642811

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Abstract

Otosclerosis is a common form of conductive hearing loss, caused by an abnormal bone remodelling in the otic capsule. Both environmental and genetic factors have been implicated in the etiology of this disease. A recent genome wide association study identified two regions associated with otosclerosis, one on chr7q22.1, located in the RELN gene, and one on chr11q13.1. A second study in four European populations has replicated the association of the RELN gene with otosclerosis. To investigate the association of these loci with otosclerosis in a non-European population, we tested 11 SNPs from the two regions in 149 unrelated Tunisian patients and 152 controls. Four SNPs were significantly associated with otosclerosis. Three SNPs are located in the RELN region and the last one is located in the region on chromosome 11. We also observed a significant interaction with gender for rs3914132. This suggests an influence of sex on the association of RELN with otosclerosis. A meta-analysis showed that the disease-associated alleles in the Tunisian sample are the same as in all previously reported associations. Our study provides additional evidence implicating RELN in the development of otosclerosis. Additional functional studies should determine the role of RELN in the physiopathology of this disease.

Genetic Predisposition to Disease

Extracellular Matrix Proteins - genetics

Humans

Male

Chromosomes, Human, Pair 11 - genetics

Sex Characteristics

Nerve Tissue Proteins - genetics

Cell Adhesion Molecules, Neuronal - genetics

Otosclerosis - physiopathology

Serine Endopeptidases - genetics

Female

Otosclerosis - genetics

Polymorphism, Single Nucleotide

Tunisia

Chromosomes, Human, Pair 3 - genetics

Details

Title: Subtitle: Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia
Creators: Ayda Khalfallah - Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Tunisie
Isabelle Schrauwen
Malek Mnaja
Erik Fransen
Imed Lahmar
Megan Ealy
Leila Dhouib
Hammadi Ayadi
Ilhem Charfedine
Nabil Driss
Abdelmonem Ghorbel
Richard J H Smith
Saber Masmoudi
Guy Van Camp
Resource Type: Journal article
Publication Details: Annals of human genetics, Vol.74(5), pp.399-405
DOI: 10.1111/j.1469-1809.2010.00595.x
PMID: 20642811
NLM abbreviation: Ann Hum Genet
ISSN: 0003-4800
eISSN: 1469-1809
Publisher: England
Language: English
Date published: 09/01/2010
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: 9984006410702771

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