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西班牙裔、拉丁裔人群听力损失的遗传基础。

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

作者信息

Mittal Rahul, Patel Amit P, Nguyen Desiree, Pan Debbie R, Jhaveri Vasanti M, Rudman Jason R, Dharmaraja Arjuna, Yan Denise, Feng Yong, Chapagain Prem, Lee David J, Blanton Susan H, Liu Xue Zhong

机构信息

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA.

Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China.

出版信息

Gene. 2018 Mar 20;647:297-305. doi: 10.1016/j.gene.2018.01.027. Epub 2018 Jan 10.

Abstract

Hearing loss (HL) is the most common neurosensory disorder affecting humans. The screening, prevention and treatment of HL require a better understanding of the underlying molecular mechanisms. Genetic predisposition is one of the most common factors that leads to HL. Most HL studies include few Spanish, Hispanic and Latino participants, leaving a critical gap in our understanding about the prevalence, impact, unmet health care needs, and genetic factors associated with hearing impairment among Spanish, Hispanic and Latino populations. The few studies which have been performed show that the gene variants commonly associated with HL in non-Spanish and non-Hispanic populations are infrequently responsible for hearing impairment in Spanish as well as Hispanic and Latino populations (hereafter referred to as Hispanic). To design effective screening tools to detect HL in Spanish and Hispanic populations, studies must be conducted to determine the gene variants that are most commonly associated with hearing impairment in this racial/ethnic group. In this review article, we summarize gene variants and loci associated with HL in Spanish and Hispanic populations. Identifying new genetic variants associated with HL in Spanish and Hispanic populations will pave the way to develop effective screening tools and therapeutic strategies for HL.

摘要

听力损失(HL)是影响人类的最常见神经感觉障碍。HL的筛查、预防和治疗需要更好地了解其潜在分子机制。遗传易感性是导致HL的最常见因素之一。大多数HL研究纳入的西班牙裔、拉丁裔参与者很少,这使得我们在了解西班牙裔、拉丁裔人群中听力障碍的患病率、影响、未满足的医疗需求以及相关遗传因素方面存在重大差距。已开展的少数研究表明,在非西班牙裔和非拉丁裔人群中通常与HL相关的基因变异,在西班牙裔以及拉丁裔人群(以下简称拉丁裔)中很少导致听力障碍。为了设计有效的筛查工具来检测西班牙裔和拉丁裔人群中的HL,必须开展研究以确定在这个种族/族裔群体中最常与听力障碍相关的基因变异。在这篇综述文章中,我们总结了西班牙裔和拉丁裔人群中与HL相关的基因变异和基因座。识别西班牙裔和拉丁裔人群中与HL相关的新遗传变异将为开发有效的HL筛查工具和治疗策略铺平道路。

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本文引用的文献

1
Hearing loss as a risk factor for dementia: A systematic review.
Laryngoscope Investig Otolaryngol. 2017 Mar 16;2(2):69-79. doi: 10.1002/lio2.65. eCollection 2017 Apr.
2
High-Resolution Computed Tomography Imaging in Conductive Hearing Loss: What to Look for?
Curr Probl Diagn Radiol. 2018 Mar-Apr;47(2):119-124. doi: 10.1067/j.cpradiol.2017.05.005. Epub 2017 May 17.
4
Paediatric hearing loss.
BMJ. 2017 Mar 9;356:j803. doi: 10.1136/bmj.j803.
5
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.
PLoS One. 2017 Mar 8;12(3):e0169219. doi: 10.1371/journal.pone.0169219. eCollection 2017.
6
Addressing Estimated Hearing Loss in Adults in 2060.
JAMA Otolaryngol Head Neck Surg. 2017 Jul 1;143(7):733-734. doi: 10.1001/jamaoto.2016.4642.
7
Unilateral hearing loss in children: a retrospective study and a review of the current literature.
Eur J Pediatr. 2017 Apr;176(4):475-486. doi: 10.1007/s00431-016-2827-2. Epub 2017 Jan 28.
8
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Sci Rep. 2017 Jan 19;7:34425. doi: 10.1038/srep34425.
9
Congenital hearing loss.
Nat Rev Dis Primers. 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94.
10
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
Int J Pediatr Otorhinolaryngol. 2017 Jan;92:82-87. doi: 10.1016/j.ijporl.2016.11.015. Epub 2016 Nov 15.

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