돌발성 난청과 CACNA1E 유전자 단일염기다형성의 연관성 연구

Abstract

Background and Objectives: The present study aimed to investigate whether single nucleotide polymorphisms (SNPs) in calcium voltage-gated channel subunit alpha1E (CACNA1E) are associated with sudden sensorineural hearing loss (SSNHL).

Subjects and Method: Eighty-one Korean SSNHL patients and 455 healthy subjects were selected from a single tertiary hospital. Human genomic DNA extracted from the peripheral blood samples and five exon regions of SNPs in CACNA1E were genotyped by direct sequencing.

Results: In rs357737760, the A/T genotype was present with significantly higher frequency among the SSNHL patients than the T/T (p=0.0003) genotype. In rs34488539, the C/T genotype was present with significantly higher frequency among SSNHL patients than the C/C genotype (p=0.0003). In rs4652678, the C/T genotype was present with significantly higher frequency among the SSNHL patients than the T/T genotype (codominant model, p=0.0079) (dominant model, p=0.0027) (overdominant model, p=0.0021). In rs199930, the C/T genotype was present with significantly higher frequency among the SSNHL patients than the C/C genotype (codominant model, p=0.0081) (dominant model, p=0.0028) (overdominant model, p=0.0022). In rs704326, the A/A genotype was present with significantly lower frequency among the SSNHL patients than the G/G genotype (codominant model, p=0.0003) (recessive model, p=0.0001).

Conclusion: We found rs35737760, rs344488539, rs4652678 and rs199930 SNPs of CACNA1E to be highly associated with SSNHL. Only rs704326 SNP of CACNA1E is found with low association with SSNHL.