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
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China.
Gene. 2018 Mar 20;647:297-305. doi: 10.1016/j.gene.2018.01.027. Epub 2018 Jan 10.
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.
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。