돌발성 난청과 CACNA1E 유전자 단일염기다형성의 연관성 연구
Association Study of CACNA1E Gene Polymorphisms and Sudden Sensorineural Hearing Loss
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Background and Objectives The present study aimed to investigate whether single nucleo-tide 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 wereselected from a single tertiary hospital. Human genomic DNA extracted from the peripheralblood samples and five exon regions of SNPs in CACNA1E were genotyped by direct se-quencing. Results In rs357737760, the A/T genotype was present with significantly higher frequencyamong the SSNHL patients than the T/T ( p=0.0003) genotype. In rs34488539, the C/T geno-type was present with significantly higher frequency among SSNHL patients than the C/Cgenotype ( p=0.0003). In rs4652678, the C/T genotype was present with significantly higherfrequency 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 genotypewas present with significantly higher frequency among the SSNHL patients than the C/C gen-otype (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 frequencyamong the SSNHL patients than the G/G genotype (codominant model, p=0.0003) (recessivemodel, p=0.0001). Conclusion We found rs35737760, rs344488539, rs4652678 and rs199930 SNPs of CAC-NA1E to be highly associated with SSNHL. Only rs704326 SNP of CACNA1E is found withlow association with SSNHL.
Abstract
Background and Objectives The present study aimed to investigate whether single nucleo-tide 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 wereselected from a single tertiary hospital. Human genomic DNA extracted from the peripheralblood samples and five exon regions of SNPs in CACNA1E were genotyped by direct se-quencing. Results In rs357737760, the A/T genotype was present with significantly higher frequencyamong the SSNHL patients than the T/T ( p=0.0003) genotype. In rs34488539, the C/T geno-type was present with significantly higher frequency among SSNHL patients than the C/Cgenotype ( p=0.0003). In rs4652678, the C/T genotype was present with significantly higherfrequency 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 genotypewas present with significantly higher frequency among the SSNHL patients than the C/C gen-otype (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 frequencyamong the SSNHL patients than the G/G genotype (codominant model, p=0.0003) (recessivemodel, p=0.0001). Conclusion We found rs35737760, rs344488539, rs4652678 and rs199930 SNPs of CAC-NA1E to be highly associated with SSNHL. Only rs704326 SNP of CACNA1E is found withlow association with SSNHL.
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