对开放基因数据库的综合分析揭示了偏头痛的新关联

Q4 Pharmacology, Toxicology and Pharmaceutics Current Pharmacogenomics and Personalized Medicine Pub Date : 2024-01-12 DOI:10.2174/0118756921286656231219095417
A. Yakubova, A. Rizvanov
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引用次数: 0

摘要

偏头痛是严重影响生活质量的最常见疾病之一。这种疾病有明显的遗传因素。导致单基因偏瘫性偏头痛发生的基因已经被确定,而与常见偏头痛及其亚型相关的遗传学研究仍在继续。本研究旨在通过分析现有的开放式基因数据库,寻找新的潜在偏头痛基因标记。分析对象包括 ClinVar、GWAS Catalog、UK Biobank 和 FinnGen 等数据库。 在所有数据库中,使用关键词 "偏头痛 "搜索与偏头痛相关的变异。临床注释为 "致病 "和 "可能致病 "的基因变异是从 ClinVar 数据库的变异中挑选出来的。从其他数据库中选择了关联显著性水平为p≤5×10-8的变异。在排除了以往偏头痛研究中已知的多态性后,发现有45个基因变异是首次发现的。这些变异属于不同的功能组,包括离子通道、酶、受体和调节蛋白,支持/证实了目前对偏头痛多基因性质的理解。确定偏头痛的新遗传关联有助于更好地了解偏头痛的发病机制,并为诊断和开发更有效的治疗策略提供新的可能性。
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Generalized Analysis of Open Genetic Databases Reveals New Associations with Migraine
Migraine is one of the most common diseases that significantly impairs the quality of life. This condition has a pronounced genetic component. Genes responsible for the development of monogenic forms of hemiplegic migraine have already been identified, and the search for genetic associations with common migraine and its subtypes continues. The aim of this study was to search for new potential genetic markers of migraine by analyzing available open genetic databases. The analysis included databases such as ClinVar, GWAS Catalog, UK Biobank, and FinnGen. In all databases, the keyword "migraine" was used to search for migraine- associated variants. Genetic variants with clinical annotations "pathogenic" and "likely pathogenic" were selected from the variants in the ClinVar database. From other databases, variants with an association significance level of p ≤ 5×10-8 were chosen. A total of 112 genetic variants associated with migraine were identified. After excluding polymorphisms known from previous migraine studies, it was found that 45 genetic variants were identified for the first time. These variants belong to various functional groups, including ion channels, enzymes, receptors, and regulatory proteins, supporting/confirming the current understanding of the polygenic nature of migraine. Identifying new genetic associations with migraine can contribute to a better understanding of its pathogenesis and open new possibilities for diagnosis and the development of more effective treatment strategies for this condition.
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来源期刊
Current Pharmacogenomics and Personalized Medicine
Current Pharmacogenomics and Personalized Medicine Pharmacology, Toxicology and Pharmaceutics-Pharmacology
CiteScore
0.40
自引率
0.00%
发文量
11
期刊介绍: Current Pharmacogenomics and Personalized Medicine (Formerly ‘Current Pharmacogenomics’) Current Pharmacogenomics and Personalized Medicine (CPPM) is an international peer reviewed biomedical journal that publishes expert reviews, and state of the art analyses on all aspects of pharmacogenomics and personalized medicine under a single cover. The CPPM addresses the complex transdisciplinary challenges and promises emerging from the fusion of knowledge domains in therapeutics and diagnostics (i.e., theragnostics). The journal bears in mind the increasingly globalized nature of health research and services.
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