耳硬化症发病机制的遗传学和分子生物学研究

高建军; 段宏

doi:10.3969/j.issn.1672-4933.2024.02.012

您当前的位置：

首页 >

文章列表页 >

耳硬化症发病机制的遗传学和分子生物学研究

综述 | 更新时间：2024-04-09

- 耳硬化症发病机制的遗传学和分子生物学研究
- Genetic and Molecular Biology Research on the Pathogenesis of Otosclerosis
- 中国听力语言康复科学杂志 2024年22卷第2期页码：168-171
- 作者机构：
  
  内蒙古医科大学附属医院呼和浩特 010030
- 作者简介：
  
  高建军硕士主治医师；研究方向：耳科学，聋病分子诊断
  段宏，E-mail：dh980611@126.com
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2024.02.012
  中图分类号： R764.9
- 纸质出版日期：2024-03-15，
  
  收稿日期：2024-01-17，
- 稿件说明：
移动端阅览
高建军,段宏.耳硬化症发病机制的遗传学和分子生物学研究[J].中国听力语言康复科学杂志,2024,22(02):168-171.

GAO Jian-jun,DUAN Hong.Genetic and Molecular Biology Research on the Pathogenesis of Otosclerosis[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2024,22(02):168-171.
高建军,段宏.耳硬化症发病机制的遗传学和分子生物学研究[J].中国听力语言康复科学杂志,2024,22(02):168-171. DOI： 10.3969/j.issn.1672-4933.2024.02.012.

GAO Jian-jun,DUAN Hong.Genetic and Molecular Biology Research on the Pathogenesis of Otosclerosis[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2024,22(02):168-171. DOI： 10.3969/j.issn.1672-4933.2024.02.012.

摘要

耳硬化症是一种伴有外显率减少的常染色体显性疾病，近40%～50%临床病例是没有家族遗传病史的散发病例，是由遗传因素和环境因素共同作用的复杂的遗传性疾病。遗传因素包括分子途径（包括骨质重建、免疫途径、炎性因素、内分泌途径），这些因素对耳硬化症的发展起一定作用。

Abstract

Otosclerosis is an autosomal dominant disease with reduced penetrance

but approximately 40%-50% of clinical cases are sporadic without a family history of the disease. Many studies suggest that otosclerosis is a complex genetic disorder caused by the combined effects of genetic and environmental factors. Genetic factors include molecular pathways

such as bone remodeling

immune pathways

inflammatory factors

and endocrine pathways

which play a role in the development of otosclerosis.

关键词

耳硬化症遗传学分子生物学

Keywords

OtosclerosisGeneticMolecular biology

references

Rudic M, Keogh I, Wagner R, et al. The pathophysiology of otosclerosis: review of current research[J]. Hear Res, 2015, 330:51-56.

Schrauwen I, Van Camp G. The etiology of otosclerosis: a combination of genes and environment[J]. Laryngoscope, 2010, 120(6):1195-1202.

Arnold W, Friedmann I. Presence of viral specific antigens (measles, rubella) around the active otosclerotic focus[J]. Ann Otol Rhinol Laryngol, 1987, 66(4):167-171.

McKenna MJ, Mills BG. Ultrastructural and immunohistochemical evidence of measles virus in active otosclerosis[J]. Acta Otolaryngol Suppl, 1990, 109(470):130-139.

Dorig RE, Marcil A, Chopra A, et al. The human CD46 molecule is a receptor for measles virus (edmonston strain)[J]. Cell,1993,75(2):295-305.

Grayeli AB, Escoubet B, Bichara M, et al. Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride[J]. Otol Neurotol, 2003, 24(6):854-862.

Hentschel MA, Huizinga P, van der Velden DL, et al. Limited evidence for the effect of sodium fluoride on deterioration of hearing loss in patients with otosclerosis: a systematic review of the literature[J]. Otol Neurotol 2014,35(6):1052-1057.

于慧前,杜强,李华伟,等. COL1A1突变致I型成骨不全/耳硬化家系的遗传和临床表型分析[J].中华耳科学杂志,2019,17(3):358-363.

Thys M, Van Camp G. Genetics of otosclerosis[J]. Otol Neurotol, 2009,30(8):1021-1032.

Stankovic KM, McKenna MJ. Current research in otosclerosis[J]. Curr Opin Otolaryngol Head Neck Surg, 2006, 14(5):347-351.

Amal Bouzid, Adel Tekari, Fida Jbeli,et al.Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis[J]. BMC Medical Genetics, 2020, 21(1):1-10.

王艳,叶胜难.耳硬化症的基因学研究进展[J].中华耳科学杂志, 2006, 4(3):241-243.

Csomor P, Sziklai I, Karosi T. TNF-a receptor expression correlates with histologic activity of otosclerosis[J]. Otol Neurotol, 2009, 30(8):1131-1137.

Rudic M, Milkovic L, Zarkovic K, et al. The effects of angiotensin II and the oxidative stress mediator 4-hydroxynonenal on human osteoblast-like cell growth: possible relevance to otosclerosis[J]. Free Radic Biol Med, 2013, 57:22-28.

Imauchi Y, Jeunemaitre X, Boussion M. Relation between renin-angiotensinaldosterone system and otosclerosis: a genetic association and in vitro study[J]. Otol Neurotol, 2008, 29(3):295-301.

Yildirim YS, Apuhan T, Duzenli S, et al. Otosclerosis and vitamin D receptor gene polymorphism[J]. Am J Otolaryngol,2013, 34(5):454-457.

Lisse JM, Tavernier, Erik Fransen, et al. Genetics of otosclerosis: finally catching up with other complex traits?[J].Human Genetics, 2022, 141(3):939-950.

Wang JY, Liu Y, Song LJ, et al. Novel mutations in SERPINF1 result in rare osteogenesis imperfect type VI[J]. Calcif Tissue Int, 2017, 100(1):55-66.

Saurabh Priyadarshi, Kirtal Hansdah, Neha Singh,et al.The risks of RELN polymorphisms and its expression in the development of otosclerosis[J]. PloS one, 2022, 17(6):e0269558.

Morgan M, Schott JW, Rossi A, et al. Gene therapy as a possible option to treat hereditary hearing loss[J]. Med Genet, 2020, 32(2): 149-159.

浏览量

157

下载量

CSCD

文章被引用时，请邮件提醒。

提交

工具集

关联资源

暂无数据