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. 2020 Oct;8(10):e1469.
doi: 10.1002/mgg3.1469. Epub 2020 Aug 22.

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

Mingzhu Deng  1 , Chen Liu  1 , Weiqing Jiang  2 , Fei Wang  2 , Juan Zhou  3 , Dong Wang  3 , Yonggang Wang  1   4   5
Affiliations

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

Mingzhu Deng et al. Mol Genet Genomic Med. 2020 Oct.

Abstract

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.

Keywords: LOXL1; benign paroxysmal positional vertigo (BPPV); genetic variants; next-generation sequencing (NGS).

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Clinical characteristics of semicircular canals in 726 BPPV patients. PC: posterior canal; LC: lateral canal; AC: anterior canal. **p < 0.01, ***p < 0.001
Figure 2
Figure 2
Pairwise linkage disequilibrium plot for the SNV. R 2 represents the strength of the pairwise linkage disequilibrium (LD) in LOXL1. It means that two SNVs are totally independent when R 2 is equal to zero. R 2 values are between 0 and 1
See this image and copyright information in PMC

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