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

Author

Listed:
  • 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
  • Puppala Venkat Ramchander

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

Suggested Citation

  • 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 Mas, 2022. "The risks of RELN polymorphisms and its expression in the development of otosclerosis," PLOS ONE, Public Library of Science, vol. 17(6), pages 1-20, June.
  • Handle: RePEc:plo:pone00:0269558
    DOI: 10.1371/journal.pone.0269558
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