糖皮质激素受体 (NR3C1) 基因多态性与突发性聋的预后。
Glucocorticoid receptor (NR3C1) genetic polymorphisms and the outcomes of sudden sensorineural hearing loss.
机构信息
Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, No. 100, Tzyou 1st Road, Kaohsiung, 807, Taiwan.
Department of Otorhinolaryngology, Kaohsiung Municipal Siaogang Hospital, Kaohsiung, Taiwan.
出版信息
J Otolaryngol Head Neck Surg. 2023 Feb 12;52(1):13. doi: 10.1186/s40463-022-00601-w.
BACKGROUND
The glucocorticoid receptor gene (NR3C1) encodes the receptor to which cortisol and other glucocorticoids bind. Steroids in either oral, intratympanic, or intravascular forms are the treatment of choice for sudden sensorineural hearing loss (SSNHL), but the outcome varies. The outcomes of SSNHL have been investigated for related factors, including age, initial hearing loss severity and pattern, vertigo, genetic variations, and the time between onset and treatment. The objective of the present study was to analyze the association of genetic polymorphisms of NR3C1 with the outcomes of SSNHL.
MATERIALS AND METHODS
We conducted a comparison study of 93 cases with a poor outcome (control) and 100 cases with a good outcome (case) in SSNHL patients. Six single nucleotide polymorphisms (SNPs) were selected. The genotypes were determined using TaqMan technology.
RESULTS
The heterozygous AT genotype of rs17100289 was associated with a poor outcome in comparison with the major homozygous AA genotype after adjustments for age and sex (OR = 0.50; 95% CI 0.26-0.95; P = 0.035) in SSNHL patients. The CT genotype of rs4912912 was also associated with a poor outcome compared with the major homozygous TT genotype after the adjustments (OR = 0.47; 95% CI 0.24-0.92; P = 0.026).
CONCLUSION
These results suggest that NR3C1 genetic polymorphisms may influence the outcomes of SSNHL.
背景
糖皮质激素受体基因（NR3C1）编码皮质醇和其他糖皮质激素的受体结合蛋白。无论是口服、鼓室内还是血管内形式的类固醇都是突发性聋（SSNHL）的首选治疗方法，但结果因人而异。SSNHL 的预后已针对相关因素进行了研究，包括年龄、初始听力损失严重程度和模式、眩晕、遗传变异以及发病与治疗之间的时间。本研究的目的是分析 NR3C1 基因多态性与 SSNHL 预后的关系。
材料和方法
我们对 93 例预后不良（对照组）和 100 例预后良好（病例组）的 SSNHL 患者进行了比较研究。选择了 6 个单核苷酸多态性（SNP）。采用 TaqMan 技术确定基因型。
结果
与主要纯合 AA 基因型相比，rs17100289 的杂合 AT 基因型在调整年龄和性别后与 SSNHL 患者的不良预后相关（OR=0.50；95%CI 0.26-0.95；P=0.035）。与主要纯合 TT 基因型相比，rs4912912 的 CT 基因型在调整后也与不良预后相关（OR=0.47；95%CI 0.24-0.92；P=0.026）。
结论
这些结果表明，NR3C1 基因多态性可能影响 SSNHL 的预后。
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