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

Saurabh Priyadarshi, Kirtal Hansdah, Neha Singh, Amal Bouzid, Chinmay Sundar Ray, Khirod Chandra Panda, Narayan Chandra Biswal, Ashim Desai, Jyotish Chandra Choudhury, Adel Tekari, Saber Masmoudi and Puppala Venkat Ramchander

PLOS ONE, 2022, vol. 17, issue 6, 1-20

Abstract: 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

Date: 2022
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0269558

DOI: 10.1371/journal.pone.0269558

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