A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.
A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.
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DOI：
10.1186/s12916-021-02169-0
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发表时间：
2021-12-01
期刊：
影响因子：
9.3
通讯作者：
Rask-Andersen M
中科院分区：
文献类型：
--
作者：
Liu W;Johansson Å;Rask-Andersen H;Rask-Andersen M
感音神经性听力损失是最常见的感觉缺陷之一。然而，与年龄相关的听力损失的分子贡献尚未完全阐明。我们在英国生物库（N = 362，396）中对听力损失相关性状进行了全基因组关联研究（GWAS），并选择了一组高置信度的10个听力相关基因产物用于人类耳蜗样本的染色：EYA 4，LMX 1A，PTK 2/FAK，UBE 3B，MMP 2，SYNJ 2，GRM 5，TRIOBP，LMO-7和NOX 4。所有的蛋白质被发现在人类耳蜗结构中表达。我们的研究结果说明耳蜗结构介导的听觉刺激，神经元电导，神经元可塑性的机械电转导参与年龄相关的听力损失。我们的研究结果表明，常见的遗传变异影响损伤的结构弹性以及创伤后耳蜗的恢复，这可以防止耳蜗结构的累积损伤和随着时间的推移听力损失的发展。在线版本包含补充材料，可通过10.1186/s12916-021-02169-0获得。
Sensorineural hearing loss is one of the most common sensory deficiencies. However, the molecular contribution to age-related hearing loss is not fully elucidated. We performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a high confidence set of ten hearing-associated gene products for staining in human cochlear samples: EYA4, LMX1A, PTK2/FAK, UBE3B, MMP2, SYNJ2, GRM5, TRIOBP, LMO-7, and NOX4. All proteins were found to be expressed in human cochlear structures. Our findings illustrate cochlear structures that mediate mechano-electric transduction of auditory stimuli, neuronal conductance, and neuronal plasticity to be involved in age-related hearing loss. Our results suggest common genetic variation to influence structural resilience to damage as well as cochlear recovery after trauma, which protect against accumulated damage to cochlear structures and the development of hearing loss over time. The online version contains supplementary material available at 10.1186/s12916-021-02169-0.
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影响因子：
0.7
作者：
Alagramam KN;Stepanyan R;Jamesdaniel S;Chen DH;Davis RR
通讯作者：
Davis RR
影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
DOI：
10.1007/s10354-018-0640-4
发表时间：
2018-09
期刊：
Wiener medizinische Wochenschrift (1946)
影响因子：
--
作者：
Breitenbach M;Rinnerthaler M;Weber M;Breitenbach-Koller H;Karl T;Cullen P;Basu S;Haskova D;Hasek J
通讯作者：
Hasek J
DOI：
10.1038/ejhg.2009.121
发表时间：
2010-01
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
5.1
作者：
Chen H;Xing Y;Xia L;Chen Z;Yin S;Wang J
通讯作者：
Wang J