Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

ABSTRACT: Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD. Methods: Sixty-eight patients who met the diagnostic criteria for MD of the Barany Society were included. We performed targeted gene sequencing using next generation sequencing (NGS) panel composed of 45 MD-associated genes. We identified the rare variants causing non-synonymous amino acid changes, stop codons, and insertions/deletions in the coding regions, and excluded the common variants with minor allele frequency >0.01 in public databases. The pathogenicity of the identified variants was analyzed by various predictive tools and protein struct

SUBMITTER: Oh EH 

PROVIDER: S-EPMC6987317 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature