The risks of RELN polymorphisms and its expression in the development of otosclerosis

Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards a...

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Veröffentlicht in:	PloS one 2022-06, Vol.17 (6), p.e0269558-e0269558
Hauptverfasser:	Priyadarshi, Saurabh, Hansdah, Kirtal, Singh, Neha, Bouzid, Amal, Ray, Chinmay Sundar, Panda, Khirod Chandra, Biswal, Narayan Chandra, Desai, Ashim, Choudhury, Jyotish Chandra, Tekari, Adel, Masmoudi, Saber, Ramchander, Puppala Venkat
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and Life Sciences Bone remodeling Development and progression Disease Electron microscopy Electrophoretic mobility Functional analysis Gene expression Gene polymorphism Gene regulation Genes Genetic aspects Genetic polymorphisms Genetic Predisposition to Disease Genotype Hearing loss Humans Immunohistochemistry Linkage analysis Low density lipoprotein receptors Medical research Medicine and Health Sciences Medicine, Experimental Middle ear Otosclerosis Otosclerosis - genetics Pathogenesis Physical Sciences Polymorphism Polymorphism, Single Nucleotide Proteins Reelin protein Reelin Protein - genetics Research and Analysis Methods Risk factors Sample size Scanning electron microscopy Single-nucleotide polymorphism Transcription factors
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Zusammenfassung:	Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case. Here, we genotyped these variants in an Indian cohort composed of 254 OTSC cases and 262 controls. We detected a significant association of rs3914132 with OTSC (OR = 0.569, 95%CI = 0.386-0.838, p = 0.0041). To confirm this finding, we completed a meta-analysis which revealed a significant association of the rs3914132 polymorphism with OTSC (Z = 6.707, p
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0269558