Fransen Erik, Lemkens Nele, Van Laer Lut, Van Camp Guy
Department of Medical Genetics, University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerp, Belgium.
Exp Gerontol. 2003 Apr;38(4):353-9. doi: 10.1016/s0531-5565(03)00032-9.
This paper reviews what is known about the environmental risk factors and medical conditions that contribute to age-related hearing impairment (ARHI), and evaluates which analyses could be performed to identify genetic factors that are involved. Although hearing acuity declines with aging in everybody, the variation in hearing thresholds is large. Part of this variation can be explained by medical conditions, and by a different exposure to environmental factors. In particular, many studies have been dedicated to the influence of occupational noise on hearing. The importance of other environmental risk factors is less clear and often controversial. In contrast, almost nothing is known about the genetic compound of ARHI. Heritability estimates have shown that approximately half of the variance in ARHI is due to heritable factors, which indicates that ARHI is a complex trait, influenced by an interplay between genetics and environment. Although several genes for monogenic hearing impairment have been identified in mouse and man, no susceptibility genes for ARHI have been identified yet. The methodology to dissect the genetics of complex traits is still developing. Possible study designs to unravel the genetics of ARHI are discussed.
本文回顾了已知的导致年龄相关性听力减退(ARHI)的环境风险因素和医学状况,并评估了可以进行哪些分析来识别其中涉及的遗传因素。虽然每个人的听力敏锐度都会随着年龄增长而下降,但听力阈值的差异很大。这种差异部分可以由医学状况以及对环境因素的不同暴露来解释。特别是,许多研究致力于职业噪声对听力的影响。其他环境风险因素的重要性尚不清楚,且常常存在争议。相比之下,对于ARHI的遗传组成几乎一无所知。遗传度估计表明,ARHI中约一半的变异是由遗传因素导致的,这表明ARHI是一种复杂性状,受遗传和环境之间相互作用的影响。虽然在小鼠和人类中已经鉴定出了几种导致单基因听力减退的基因,但尚未鉴定出ARHI的易感基因。剖析复杂性状遗传学的方法仍在不断发展。本文讨论了揭示ARHI遗传学的可能研究设计。