噪声性听力损失的遗传学研究进展

李丹阳; 王洪阳; 王秋菊

doi:10.13201/j.issn.2096-7993.2024.04.016

噪声性听力损失的遗传学研究进展

- 1.
  中国人民解放军总医院第六医学中心耳鼻咽喉头颈外科医学部(北京，100853)
- 2.
  南开大学医学院
- 3.
  国家耳鼻咽喉疾病临床医学研究中心
基金项目:
国家自然科学基金优秀青年基金项目(No：82222016)；国家自然科学基金重点项目(No：81830028)；国家自然科学基金面上项目(No：82271189，82271171，82171130)；解放军总医院优青培育专项(No：2020-YQPY-004)；军队医学科技青年培育计划孵化项目(No：21QNPY100)；军事科技领域青年人才托举工程项目(No：2021-JCJQ-QT-35)

详细信息

通讯作者: 王秋菊，E-mail：wqcr301@vip.sina.com

中图分类号: R764

收稿日期: 2023-01-03

刊出日期: 2024-04-03

Research progress in genetics of noise-induced hearing loss

- 1.
  Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100853, China
- 2.
  Nankai University School of Medicine
- 3.
  National Clinical Research Center for Otolaryngologic Diseases

More Information

Corresponding author: WANG Qiuju, E-mail: wqcr301@vip.sina.com

Received Date: 03 January 2023

Publish Date: 03 April 2024

摘要

摘要: 噪声性听力损失(noise-induced hearing loss，NIHL)是由长期噪声暴露导致的获得性进行性感音神经性听力损失。尽管在相同的噪声环境下，暴露人群也具有个体易感差异。随着测序技术的发展，NIHL中涉及氧化应激、免疫炎症、离子稳态、能量平衡、DNA损伤修复等机制的相关基因不断见诸报道，部分基因与噪声暴露指标存在交互作用。本文对近20年的NIHL相关基因多态性及基因-环境交互作用的人群研究进行综述，以期为NIHL风险预测模型构建及个性化干预制定提供依据。
- 噪声性听力损失 /
- 遗传因素 /
- 单核苷酸多态性 /
- 基因-环境交互作用
Abstract: Noise-induced hearing loss(NIHL) is an acquired sensorineural hearing loss induced by long-term noise exposure. The susceptibility of exposed people may vary even in the same noise environment. With the development of sequencing techniques, genes related to oxidative stress, immunoinflammatory, ion homeostasis, energy metabolism, DNA damage repair and other mechanisms in NIHL have been reported continuously. And some genes may interact with noise exposure indexes. In this article, population studies on NIHL-related gene polymorphisms and gene-environment interactions in the past 20 years are reviewed, aimed to providing evidence for the construction of NIHL-related risk prediction models and the formulation of individualized interventions.
- noise-induced hearing loss /
- genetic factors /
- single nucleotide polymorphisms /
- gene-environment interactions

HTML全文

表 1 噪声性听力损失不同机制的保护基因

机制	已报道保护基因	SNP
氧化应激	SOD1	rs2070424(李旭东等2018)
	NOX3	rs12195525^{[9, 29, 43]}
免疫炎症	JNK1	rs11598320^[17]
	CARD8	rs2043211^[44]
	IL-6	rs1800795(Braga等2014)
离子稳态	KCNMA1	rs696211^[22]
	PMCA2	rs1719571(Cao等2017)
能量平衡	12SrRNA	G827A(焦洁等2017)
毛细胞死亡	AKT2	rs41275750^[30]
	FAS	rs1468063^[45]、rs2862833^[45]
	CASP3	rs1049216^{[9, 29, 46-47]}、rs6948^{[9, 29, 46]}
	DFNA5/GSDME	rs2521758(Zhang等2015)
表观修饰	EYA4	rs3777781^[22]
	GRHL2	rs611419(杨秋月等2016)、rs3735715^[32]
毛细胞损伤修复	MYO1A	rs1552245^[22]
	PCDH15	rs4540756(Zhang等2014)、rs10825122(Zhang等2014)、rs2384375(Zhang等2014)、rs1930146(Zhang等2014)、rs2384437(Zhang等2014)、rs11004085^[22]
	CDH23	rs3802711(王军义等2012)
其他	GRM7	rs1485175(Yu等2018)

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表 2 与噪声指标存在交互作用的基因

机制	噪声暴露水平	CNE	adj-CNE	峰度	接噪工龄
氧化应激	SOD1，SOD2，CAT，GSTM1，GSR，PON2	SOD1，SOD2，CAT，HSPA1B	CAT，NOX3	CAT	SOD2，GSTP1，GSTM1
免疫炎症	JNK1，CARD8			JNK1	STAT3，IL-6
离子稳态	KCNQ1	KCNQ4			KCNQ4
能量平衡	GAPDH	12S rRNA，SIK3			GAPDH
DNA损伤修复	hOGG1	APE1，hOGG1，XRCC1			hOGG1
毛细胞死亡	AKT2，FOXO3，CASP3	GSDME，CASP7		FAS	FOXO3
内耳生长发育	NOTCH1				FGF-1
表观修饰	EYA4，GRHL2，DNMT1，DNMT3A，HDAC2，HOTAIR，CBX4	EYA4，GRHL2，POU4F3			DNMT1，DNMT3A，HDAC2，XPO5，CBX4
毛细胞损伤修复	PCDH15，MYH14	CDH23，PCDH15
其他	PTPRN2，PER1	GRM7，NRN1	NRN1	NRN1	PTPRN2，PER1
CNE：Cumulative noise exposure，累计噪声暴露量；adj-CNE：调整-CNE，是为了将峰度(β)纳入复杂噪声环境的评估并统一稳态和非稳态噪声的流行病学数据的CNE计算。

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参考文献(49)

[1]	Osha U. Occupational Noise Exposure: Hearing Conservation Amendment, Final Rule[J]. Fed Reg, 1983, 48: 9738-9785.
[2]	Prince MM, Stayner LT, Smith RJ, et al. A re-examination of risk estimates from the NIOSH Occupational Noise and Hearing Survey(ONHS)[J]. J Acoust Soc Am, 1997, 101(2): 950-963. doi: 10.1121/1.418053
[3]	Utidjian HM. Criteria for a recommended standard--occupational exposure to noise. I. Recommendations for a noise standard[J]. J Occup Med, 1974, 16(1): 33-37.
[4]	同济大学附属上海市肺科医院, 上海市疾病预防控制中心. 职业性噪声聋的诊断[Z]. 中华人民共和国国家卫生和计划生育委员会, 2014: 1-8.
[5]	Chadha S, Kamenov K, Cieza A. The world report on hearing, 2021[J]. Bull World Health Organ, 2021, 99(4): 242-242A. doi: 10.2471/BLT.21.285643
[6]	Rabinowitz PM, Sr PWJ, Hur Mobo B, et al. Antioxidant status and hearing function in noise-exposed workers[J]. Hear Res, 2002, 173(1-2): 164-171. doi: 10.1016/S0378-5955(02)00350-7
[7]	李坛, 陈国顺, 焦洁, 等. 过氧化氢酶基因单核苷酸多态性与职业人群噪声性听力损失易感性[J]. 卫生研究, 2020, 49(5): 716-723. https://www.cnki.com.cn/Article/CJFDTOTAL-WSYJ202005006.htm
[8]	Bashmakova EE, Krasitskaya VV, Yushkova AD, et al. [To the question of genetic predisposition to the development of professional sensorineural hearing loss][J]. Vestn Otorinolaringol, 2021, 86(1): 15-19. doi: 10.17116/otorino20218601115
[9]	Liu SY, Song WQ, Xin JR, et al. NRN1 and CAT Gene Polymorphisms, Complex Noise, and Lifestyles interactively Affect the Risk of Noise-induced Hearing Loss[J]. Biomed Environ Sci, 2021, 34(9): 705-718.
[10]	李艳红, 谷桂珍, 周文慧, 等. GSTP1基因多态性与噪声性听力损失易感性的关系[J]. 中华劳动卫生职业病杂志, 2020, 2: 120-124. doi: 10.3760/cma.j.issn.1001-9391.2020.02.009
[11]	李静芸, 焦洁, 陈国顺, 等. GPX1基因多态性与噪声性听力损失易感性的关系[J]. 中华劳动卫生职业病杂志, 2020, 2: 116-120. https://www.cnki.com.cn/Article/CJFDTOTAL-GYWZ202304001.htm
[12]	袁璐璐, 陈国顺, 焦洁, 等. GSR基因多态性与噪声性听力损失易感性的关系[J]. 中华劳动卫生职业病杂志, 2020, 2: 101-107. https://www.cnki.com.cn/Article/CJFDTOTAL-GYWZ202304001.htm
[13]	武珊珊, 于金宁, 焦洁, 等. PON2基因多态性与噪声性听力损失易感性的关系[J]. 中华劳动卫生职业病杂志, 2020, 2: 128-132. https://www.cnki.com.cn/Article/CJFDTOTAL-GYWZ202304001.htm
[14]	Zhou H, Zhou J, Li H, et al. Paraoxonase 3 gene polymorphisms are associated with occupational noise-induced deafness: A matched case-control study from China[J]. PLoS One, 2020, 15(10): e0240615. doi: 10.1371/journal.pone.0240615
[15]	Wang BS, Xu K, Zhang H, et al. Association between NFE2 L2 Gene Polymorphisms and Noise-induced Hearing Loss in a Chinese Population[J]. Biomed Environ Sci, 2019, 32(6): 465-470.
[16]	高登风, 王博深, 孙大伟, 等. STAT3 rs1053005位点与miR-452-3p靶向结合及其基因多态性与噪声性听力损失的关联性[J]. 中华劳动卫生职业病杂志, 2021, 39: 412-417. https://www.cnki.com.cn/Article/CJFDTOTAL-LCFK202403009.htm
[17]	Sun D, Wang B, Guo H, et al. Single nucleotide polymorphisms in JNK1 are associated with susceptibility to noise-induced hearing loss in a Chinese population[J]. Int Arch Occup Environ Health, 2021, 94(5): 833-842. doi: 10.1007/s00420-020-01644-0
[18]	Yang G, Wang B, Sun D, et al. Genetic association study between TAB2 polymorphisms and noise-induced-hearing-loss in a Han Chinese population[J]. PLoS One, 2021, 16(5): e0251090. doi: 10.1371/journal.pone.0251090
[19]	Ding E, Wang H, Han L, et al. Variations in the potassium voltage-gated channel subfamily E regulatory subunit 1 gene associated with noise-induced hearing loss in the Chinese population[J]. Environ Sci Pollut Res Int, 2020, 27(15): 18822-18830. doi: 10.1007/s11356-020-08422-y
[20]	Guo H, Ding E, Sheng R, et al. Genetic variation in KCNQ4 gene is associated with susceptibility to noise-induced hearing loss in a Chinese population[J]. Environ Toxicol Pharmacol, 2018, 63: 55-59. doi: 10.1016/j.etap.2018.08.009
[21]	周文慧, 谷桂珍, 吴辉, 等. KCNQ4基因多态性与噪声性听力损失易感性的关系[J]. 中华劳动卫生职业病杂志, 2020, 2: 111-116. https://www.cnki.com.cn/Article/CJFDTOTAL-GYWZ202304001.htm
[22]	Zhang X, Ni Y, Liu Y, et al. Screening of noise-induced hearing loss(NIHL)-associated SNPs and the assessment of its genetic susceptibility[J]. Environ Health, 2019, 18(1): 30. doi: 10.1186/s12940-019-0471-9
[23]	王科, 朱云, 王应强, 等. UCP2基因多态性与噪声性听力损失易感性的关系[J]. 重庆医学, 2020, 49(10): 1643-1647, 1652. https://www.cnki.com.cn/Article/CJFDTOTAL-CQYX202010022.htm
[24]	Wan L, Wang B, Zhang J, et al. Associations of Genetic Variation in Glyceraldehyde 3-Phosphate Dehydrogenase Gene with Noise-Induced Hearing Loss in a Chinese Population: A Case-Control Study[J]. Int J Environ Res Public Health, 2020, 17(8): 2899. doi: 10.3390/ijerph17082899
[25]	Yin H, Guo J, Ding E, et al. Salt-Inducible Kinase 3 Haplotypes Associated with Noise-Induced Hearing Loss in Chinese Workers[J]. Audiol Neurootol, 2020, 25(4): 200-208. doi: 10.1159/000506066
[26]	葛欣, 盛荣建, 郭佳娣, 等. hOGG1、APEX1和XRCC1基因单核苷酸多态性与噪声性听力损失的关联研究[J]. 职业卫生与应急救援, 2019, 37(2): 107-112. https://www.cnki.com.cn/Article/CJFDTOTAL-ZYWS201902003.htm
[27]	Ding E, Guo J, Ge X, et al. Analysis of Polymorphisms Associated with Base Excision Repair in Patients Susceptible and Resistant to Noise-Induced Hearing Loss[J]. Dis Markers, 2019, 2019: 9327106.
[28]	Ruan Y, Zhang J, Mai S, et al. Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population[J]. Sci Rep, 2021, 11(1): 1803. doi: 10.1038/s41598-021-81391-5
[29]	辛佳芮, 陈莹琦, 刘双燕, 等. CASP和NOX3多态性与噪声性听力损失发生风险的关系[J]. 中华劳动卫生职业病杂志, 2021, 39(11): 819-824.
[30]	Miao L, Wang B, Zhang J, et al. Plasma metabolomic profiling in workers with noise-induced hearing loss: a pilot study[J]. Environ Sci Pollut Res Int, 2021, 28(48): 68539-68550. doi: 10.1007/s11356-021-15468-z
[31]	杨秋月, 徐相蓉, 焦洁, 等. EYA4基因多态性与职业噪声性听力损失易感性的关系[J]. 中华预防医学杂志, 2017, 51(1): 27-33.
[32]	杨秋月, 王菁菁, 徐相蓉, 等. 三种遗传性耳聋基因交互作用与高频听力损失易感性的关系[J]. 中国工业医学杂志, 2018, 31(2): 83-86, 93, 161. https://www.cnki.com.cn/Article/CJFDTOTAL-SOLE201802002.htm
[33]	Wang H, Yang G, Sun D, et al. Histone deacetylase 2 polymorphisms associated with noise-induced hearing loss in Chinese workers[J]. Environ Sci Pollut Res Int, 2021, 28(28): 38254-38262. doi: 10.1007/s11356-021-13486-5
[34]	郭佳娣, 盛荣建, 陈剑, 等. XPO5基因单核苷酸多态性与噪声性听力损失易感性关系[J]. 中国职业医学, 2018, 45(5): 558-562, 567. https://www.cnki.com.cn/Article/CJFDTOTAL-XYYX201805007.htm
[35]	Wang N, Wang B, Guo J, et al. Erratum to "Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population"[J]. Biochem Res Int, 2020, 2020: 9649346.
[36]	Wang B, Wan L, Sun P, et al. Associations of genetic variation in E3 SUMO-protein ligase CBX4 with noise-induced hearing loss[J]. Hum Mol Genet, 2022, 31(13): 2109-2120. doi: 10.1093/hmg/ddac006
[37]	Wan L, Zhang L, Sun P, et al. Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: a cross-sectional study[J]. Environ Sci Pollut Res Int, 2022, 29(22): 32947-32958. doi: 10.1007/s11356-021-18360-y
[38]	Wagner EL, Shin JB. Mechanisms of Hair Cell Damage and Repair[J]. Trends Neurosci, 2019, 42(6): 414-424. doi: 10.1016/j.tins.2019.03.006
[39]	郑晨, 王瑾琳, 张素伟, 等. 钙黏蛋白23基因多态性与飞行学员噪声性听力损失的关系[J]. 中国眼耳鼻喉科杂志, 2017, 17(3): 162-165. https://www.cnki.com.cn/Article/CJFDTOTAL-YRBH201703005.htm
[40]	焦洁, 谷桂珍, 陈国顺, 等. CDH23基因多态性与噪声性听力损失发生风险关系研究[J]. 中华劳动卫生职业病杂志, 2020, 2: 84-90.
[41]	Jiang Z, Fa B, Zhang X, et al. Identifying genetic risk variants associated with noise-induced hearing loss based on a novel strategy for evaluating individual susceptibility[J]. Hear Res, 2021, 407: 108281. doi: 10.1016/j.heares.2021.108281
[42]	Niu Y, Xie C, Du Z, et al. Genome-wide association study identifies 7q11.22 and 7q36.3 associated with noise-induced hearing loss among Chinese population[J]. J Cell Mol Med, 2021, 25(1): 411-420. doi: 10.1111/jcmm.16094
[43]	Zhao T, Wang Y, Li Z, et al. Associations of noise kurtosis, genetic variations in NOX3 and lifestyle factors with noise-induced hearing loss[J]. Environ Health, 2020, 19(1): 13. doi: 10.1186/s12940-020-0566-3
[44]	Miao L, Wang B, Ji J, et al. CARD8 polymorphism rs2043211 protects against noise-induced hearing loss by causing the dysfunction of CARD8 protein[J]. Environ Sci Pollut Res Int, 2021, 28(7): 8626-8636. doi: 10.1007/s11356-020-11193-1
[45]	Xu S, Wang B, Han L, et al. Polymorphisms in the FAS gene are associated with susceptibility to noise-induced hearing loss[J]. Environ Sci Pollut Res Int, 2021, 28(17): 21754-21765. doi: 10.1007/s11356-020-12028-9
[46]	Wu Y, Ni J, Qi M, et al. Associations of genetic variation in CASP3 gene with noise-induced hearing loss in a Chinese population: a case-control study[J]. Environ Health, 2017, 16(1): 78. doi: 10.1186/s12940-017-0280-y
[47]	齐明键, 高鹤, 曹承建, 等. CASP3和CASP7基因多态性与噪声性听力损失易感性关系[J]. 中国公共卫生, 2017, 33: 905-911. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGGW201706010.htm
[48]	Lavinsky J, Ge M, Crow AL, et al. The Genetic Architecture of Noise-Induced Hearing Loss: Evidence for a Gene-by-Environment Interaction[J]. G3(Bethesda), 2016, 6(10): 3219-3228.
[49]	薛鑫淼, 陈学敏, 徐瑾, 等. 噪声性耳聋相关易感基因的研究进展[J]. 中华耳科学杂志, 2020, 18(1): 168-173. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHER202001029.htm