Uchida Yasue, Sugiura Saiko, Ando Fujiko, Nakashima Tsutomu, Shimokata Hiroshi
Department of Otorhinolaryngology, National Center for Geriatrics and Gerontology, Japan.
Auris Nasus Larynx. 2011 Dec;38(6):657-65. doi: 10.1016/j.anl.2011.02.005. Epub 2011 May 20.
Genetic epidemiology focuses on the genetic determinants in the etiology of disease among populations and seeks to elucidate the role of genetic factors and their interaction with environmental factors in disease occurrence. In recent years, genetic epidemiological research has become more focused on complex diseases, and human genome analysis technology has made remarkable advances. Age-related hearing impairment (ARHI) is a complex trait, which results from a multitude of confounding intrinsic and extrinsic factors. Although the number of genetic investigations of ARHI is increasing at a surprising rate, the etiology of ARHI is not firmly established. In this article, we review (1) the methodological strategies used to analyze genetic factors that contribute to human ARHI, (2) several representative investigations, and (3) specific genetic risk factors for human ARHI identified in previous work.
遗传流行病学关注人群疾病病因中的遗传决定因素，并试图阐明遗传因素及其与环境因素在疾病发生中的相互作用。近年来，遗传流行病学研究更加聚焦于复杂疾病，人类基因组分析技术也取得了显著进展。年龄相关性听力减退（ARHI）是一种复杂性状，由多种内在和外在混杂因素导致。尽管对ARHI的遗传学研究数量正以惊人的速度增长，但ARHI的病因尚未完全明确。在本文中，我们综述了：（1）用于分析导致人类ARHI的遗传因素的方法策略；（2）几项具有代表性的研究；以及（3）既往研究中确定的人类ARHI的特定遗传危险因素。
