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KMID : 0361020240670040206
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Korean Journal of Otolaryngology - Head and Neck Surgery
2024 Volume.67 No. 4 p.206 ~ p.213
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Association Study of CACNA1E Gene Polymorphisms and Sudden Sensorineural Hearing Loss
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Park Jun-Wan
Park Jae-Seok
Nam Sung-Il
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Abstract
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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.
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KEYWORD
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Genetic disease, Hearing loss, sudden, Polymorphism, genetic, R-type calcium channels
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