中老年人白内障与听力障碍之间的流行病学关联和共同遗传结构

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-04-17 DOI:10.1186/s40246-024-00601-z
Xiayin Zhang, Shan Wang, Shunming Liu, Zijing Du, Guanrong Wu, Yingying Liang, Yu Huang, Xianwen Shang, Yijun Hu, Zhuoting Zhu, Wei Sun, Xueli Zhang, Honghua Yu
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引用次数: 0

摘要

老年性白内障和听力障碍是全球老年人经常并存的主要感官障碍,对生活质量有着切实的影响。然而,白内障和听力障碍之间的流行病学关联仍未得到探讨,而两者是否具有共同的遗传病因也鲜为人知。我们首先利用英国生物数据库(UK Biobank)对白内障和听力障碍之间的临床联系进行了调查,该数据库涵盖 502543 人。我们进行了非匹配分析(根据混杂因素进行调整)和匹配分析(根据混杂因素为每名白内障患者匹配一名对照),结果证实白内障与听力障碍有关(OR,2.12;95% CI,1.98-2.27;OR,2.03;95% CI,1.86-2.23)。此外,我们基于现有最大的白内障(N = 585,243 例)和听力障碍(N = 323,978 例)全基因组关联研究,使用双变量因果混合模型(MiXeR)和条件/联合错误发现率方法,在共同变异水平上探索和量化了这两种复杂感官疾病的共同遗传结构。尽管检测到的遗传相关性微乎其微,但我们观察到白内障和听力障碍之间存在多基因重叠,并确定了 6 个具有混合效应方向的共享基因位点。对共享基因位点的后续分析表明,候选基因 QKI、STK17A、TYR、NSF 和 TCF4 有可能对白内障和听力障碍的病理生理学起作用。总之,这项研究证明了白内障和听力障碍之间存在流行病学关联,并在共同变异水平上为这两种疾病的共同遗传结构提供了新的见解。
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Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults
Age-related cataract and hearing difficulties are major sensory disorders that often co-exist in the global-wide elderly and have a tangible influence on the quality of life. However, the epidemiologic association between cataract and hearing difficulties remains unexplored, while little is known about whether the two share their genetic etiology. We first investigated the clinical association between cataract and hearing difficulties using the UK Biobank covering 502,543 individuals. Both unmatched analysis (adjusted for confounders) and a matched analysis (one control matched for each patient with cataract according to confounding factors) were undertaken and confirmed that cataract was associated with hearing difficulties (OR, 2.12; 95% CI, 1.98–2.27; OR, 2.03; 95% CI, 1.86–2.23, respectively). Furthermore, we explored and quantified the shared genetic architecture of these two complex sensory disorders at the common variant level using the bivariate causal mixture model (MiXeR) and conditional/conjunctional false discovery rate method based on the largest available genome-wide association studies of cataract (N = 585,243) and hearing difficulties (N = 323,978). Despite detecting only a negligible genetic correlation, we observe polygenic overlap between cataract and hearing difficulties and identify 6 shared loci with mixed directions of effects. Follow-up analysis of the shared loci implicates candidate genes QKI, STK17A, TYR, NSF, and TCF4 likely contribute to the pathophysiology of cataracts and hearing difficulties. In conclusion, this study demonstrates the presence of epidemiologic association between cataract and hearing difficulties and provides new insights into the shared genetic architecture of these two disorders at the common variant level.
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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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