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耳鸣的遗传力及遗传学贡献

Heritability and Genetics Contribution to Tinnitus.

作者信息

Lopez-Escamez Jose A, Amanat Sana

机构信息

Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer, University of Granada, Junta de Andalucía, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración, 114, Granada 18016, Spain; Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain; Department of Surgery, Division of Otolaryngology, Universidad de Granada, Granada, Spain.

Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer, University of Granada, Junta de Andalucía, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración, 114, Granada 18016, Spain. Electronic address: https://twitter.com/Sana_Amanat.

出版信息

Otolaryngol Clin North Am. 2020 Aug;53(4):501-513. doi: 10.1016/j.otc.2020.03.003. Epub 2020 Apr 23.

DOI:10.1016/j.otc.2020.03.003
PMID:32334875
Abstract

Tinnitus is the perception of sound in the absence of an external source. Genetic studies on families, twins, and adoptees cohorts have been conducted supporting tinnitus heritability, with higher heritability in men with bilateral tinnitus at any age, and young women with bilateral tinnitus, but not in unilateral tinnitus. The condition is associated with several comorbidities such as hearing loss, Meniere disease, sleep disorders, depression, and migraine and may lead toward suicidal attempts in extreme cases. Several studies have reported few regulatory allelic variants in candidate genes and pathways associated with tinnitus development, but replication studies are needed to validate them.

摘要

耳鸣是在没有外部声源的情况下对声音的感知。已经对家族、双胞胎和领养人群体进行了基因研究,支持耳鸣的遗传性,任何年龄的双侧耳鸣男性以及双侧耳鸣的年轻女性遗传性更高,但单侧耳鸣则不然。该病症与听力损失、梅尼埃病、睡眠障碍、抑郁症和偏头痛等几种合并症相关,在极端情况下可能导致自杀企图。几项研究报告了与耳鸣发展相关的候选基因和途径中几乎没有调控等位基因变异,但需要进行重复研究来验证它们。

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