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

Annals of Human Genetics
Ayda KhalfallahGuy Van Camp

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 de...Continue Reading

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Citations

Jul 23, 2011·Annals of Human Genetics·Ayda KhalfallahSaber Masmoudi
Jun 2, 2011·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·Péter CsomorTamás Karosi
Jun 28, 2011·Acta otorrinolaringológica española·José Antonio López-Escamez
May 25, 2013·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Saurabh PriyadarshiPuppala Venkat Ramchander
Jun 1, 2010·The Laryngoscope·Isabelle Schrauwen, Guy Van Camp
May 23, 2015·Annals of Human Genetics·Saurabh PriyadarshiPuppala Venkat Ramchander
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Feb 5, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Megan EalyRichard J H Smith
Mar 20, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Manou SommenTamás Karosi
Jun 14, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Helena WichovaHinrich Staecker
Mar 6, 2018·Otolaryngologic Clinics of North America·Thomas A Babcock, Xue Zhong Liu
Sep 10, 2021·Human Genetics·Lisse J M TavernierGuy Van Camp

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