A novel genetic variant associated with benign paroxysmal positional vertigo within the LOXL1

BACKGROUND: Benign paroxysmal positional vertigo (BPPV) is a common, self‐limited, and favorable prognostic peripheral vestibular disorder. BPPV is transmitted in an autosomal dominant fashion, but most cases occur sporadically. Little research has been reported regarding the mutation spectrum of sporadic BPPV in a large cohort. This study attempted to identify the causative candidate variants associated with BPPV in VDR, LOXL1, and LOXL1‐AS1. METHODS: An amplicon‐targeted next‐generation sequencing (NGS) method for VDR, LOXL1, and LOXL1‐AS1, was completed in 726 BPPV patients and 502 normal controls. A total of 30 variants (20 variants from VDR, nine variants from LOXL1, seven variants from LOXL1‐AS1) were identified in these two groups. RESULTS: Three of 30 variants were nonsynonymous mutations, but no significant difference was found between the BPPV group and the control group via association analysis. A single nucleotide variant (SNV), rs1078967, was identified that is located in intron 1 of LOXL1. The allelic frequency distribution differed significantly between the BPPV group and the control group (p = 0.002). Genotypic frequency was also significantly different (p = 0.006), as determined by gene‐based analyses. CONCLUSION: This report is the first to analyze the variant spectrum of BPPV in a large Chinese population.