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基于听觉感知的与年龄相关性听力损失相关的 GRM7 变体。

GRM7 variants associated with age-related hearing loss based on auditory perception.

机构信息

Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology, 153 Lomb Memorial Dr. Rochester, NY 14623, USA.

出版信息

Hear Res. 2012 Dec;294(1-2):125-32. doi: 10.1016/j.heares.2012.08.016. Epub 2012 Oct 25.

Abstract

Age-related hearing impairment (ARHI), or presbycusis, is a common condition of the elderly that results in significant communication difficulties in daily life. Clinically, it has been defined as a progressive loss of sensitivity to sound, starting at the high frequencies, inability to understand speech, lengthening of the minimum discernable temporal gap in sounds, and a decrease in the ability to filter out background noise. The causes of presbycusis are likely a combination of environmental and genetic factors. Previous research into the genetics of presbycusis has focused solely on hearing as measured by pure-tone thresholds. A few loci have been identified, based on a best ear pure-tone average phenotype, as having a likely role in susceptibility to this type of hearing loss; and GRM7 is the only gene that has achieved genome-wide significance. We examined the association of GRM7 variants identified from the previous study, which used an European cohort with Z-scores based on pure-tone thresholds, in a European-American population from Rochester, NY (N = 687), and used novel phenotypes of presbycusis. In the present study mixed modeling analyses were used to explore the relationship of GRM7 haplotype and SNP genotypes with various measures of auditory perception. Here we show that GRM7 alleles are associated primarily with peripheral measures of hearing loss, and particularly with speech detection in older adults.

摘要

年龄相关性听力障碍(ARHI),又称老年性聋,是老年人常见的一种病症,会导致日常生活中严重的沟通困难。临床上,它被定义为对声音敏感度的逐渐丧失,始于高频,无法理解言语,声音最小可分辨时间间隔延长,以及过滤背景噪音的能力下降。老年性聋的原因可能是环境和遗传因素的综合作用。以前对老年性聋遗传学的研究仅集中在纯音阈值测量的听力上。一些基于最佳耳纯音平均表型的基因座已被确定为对这种听力损失的易感性可能有作用;并且 GRM7 是唯一达到全基因组显著水平的基因。我们在来自纽约罗彻斯特的欧洲裔美国人人群(N=687)中,使用来自先前研究的 GRM7 变体,该研究使用基于纯音阈值的 Z 分数的欧洲队列,检查了 GRM7 变体的关联,并用新的老年性聋表型进行了检查。在本研究中,混合模型分析用于探索 GRM7 单倍型和 SNP 基因型与各种听觉感知测量值的关系。在这里,我们表明 GRM7 等位基因主要与听力损失的外周测量值相关,特别是与老年人的言语检测相关。

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