原钙黏蛋白 15 基因多态性与中国人群突发性聋的相关性。
The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.
机构信息
Department of Otolaryngology Head and Neck Surgery, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Department of Otolaryngology Head and Neck Surgery, The Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
出版信息
J Clin Lab Anal. 2023 Apr;37(8):e24896. doi: 10.1002/jcla.24896. Epub 2023 May 17.
BACKGROUND
Sudden sensorineural hearing loss (SSNHL) is a multifactorial disease, and its etiology is still unknown. SSNHL may be caused by environmental factors and genetic changes. PCDH15 is associated with susceptibility to hearing loss. The relationship between PCDH15 and SSNHL remains unknown.
METHODS
In this study, the potential association between PCDH15 polymorphism and SSNHL in Chinese population was evaluated. Two single nucleotide polymorphisms PCDH15-rs7095441 and rs11004085 in 195 SSNHL patients and 182 healthy controls were determined by TaqMan technology.
RESULTS
In Chinese population, the TT genotype and T allele of rs7095441 are associated with increased susceptibility to SSNHL. The relationships between rs7095441 and the degree of hearing loss were analyzed, and TT genotype increased the risk of hearing loss. Among SSNHL patients, patients with TT genotype of rs7095441 have an increased risk of vertigo.
CONCLUSION
This study found that the TT genotype of SNP rs7095441 can increase the risk of SSNHL in Chinese population.
背景
突发性聋（SSNHL）是一种多因素疾病，其病因尚不清楚。SSNHL 可能由环境因素和遗传变化引起。PCDH15 与听力损失易感性有关。PCDH15 与 SSNHL 之间的关系尚不清楚。
方法
本研究评估了 PCDH15 多态性与中国人群 SSNHL 的潜在关联。通过 TaqMan 技术检测了 195 例 SSNHL 患者和 182 例健康对照者中 PCDH15 单核苷酸多态性 rs7095441 和 rs11004085。
结果
在中国人群中，rs7095441 的 TT 基因型和 T 等位基因与 SSNHL 的易感性增加相关。分析了 rs7095441 与听力损失程度的关系，TT 基因型增加了听力损失的风险。在 SSNHL 患者中，rs7095441 的 TT 基因型患者眩晕风险增加。
结论
本研究发现 SNP rs7095441 的 TT 基因型可增加中国人群 SSNHL 的发病风险。
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