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돌발성 난청과 CACNA1E 유전자 단일염기다형성의 연관성 연구

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Author(s)
Jun Wan ParkJae Seok ParkSung Il Nam
Keimyung Author(s)
Nam, Sung Il
Department
Dept. of Otorhinolaryngology (이비인후과학)
Journal Title
Korean J Otorhinolaryngol-Head Neck Surg
Issued Date
2024
Volume
67
Issue
4
Keyword
Genetic diseaseHearing losssuddenPolymorphismgeneticR-type calcium channels
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.
Alternative Title
Association Study of CACNA1E Gene Polymorphisms and Sudden Sensorineural Hearing Loss
Keimyung Author(s)(Kor)
남성일
Publisher
School of Medicine (의과대학)
Type
Article
ISSN
2092-6529
Source
https://www.kjorl.org/journal/view.php?number=8777
DOI
10.3342/kjorl-hns.2023.00591
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/45386
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학)
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