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Literature Data Mining and Enrichment Analysis on Top 235 Genes for Attention Deficit Hyperactivity Disorder

机译:注意缺陷多动障碍的前235个基因的文献数据挖掘和富集分析

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Background: Attention deficit hyperactivity disorder (ADHD) is a psychiatric disorder of the neuro-developmental type, marked by an ongoing pattern of inattention or hyperactivity/impulsivity, which interferes with functioning or development. The disorder affects approximately 5-7 % children and 2-5 % of adults worldwide. Numerous studies have indicated that genetic factors predominate the causes for ADHD. Nevertheless, no systematic study has summarized these findings and provided an objective and complete list of genes with a reported association to ADHD. Methods: Literature and enrichment metrics analyses were used to discover genes of specific significance associated with ADHD. We conducted a literature data mining (LDM) of over 2,410 articles covering publications from Jan. 1988 to Apr. 2016, where 235 genes were reported to be associated with the disease. Then we performed a gene set enrichment analysis (GSEA) and a sub-network enrichment analysis (SNEA) to study the functional profile and pathogenic significance of these genes associated with ADHD. Lastly, we performed a network connectivity analysis (NCA) to study the associations between the reported genes. Results: 181/235 genes enriched 100 pathways (p Conclusion: Our results suggest that the genetic causes of ADHD are linked to a genetic and functional network composed of a large group of genes. The gene lists, together with the literature and enrichment metrics provided in this study, could serve as groundwork for further biological/genetic studies in the field.
机译:背景:注意缺陷多动障碍(ADHD)是一种神经发育型的精神病性疾病,其特征是正在进行的注意力不集中或活动过度/冲动性模式,会干扰功能或发育。该疾病影响全世界约5-7%的儿童和2-5%的成年人。大量研究表明,遗传因素是导致多动症的主要原因。然而,尚无系统的研究总结这些发现,并提供了客观和完整的基因清单,并报告了与ADHD的关联。方法:文献和富集指标分析用于发现与多动症相关的特定基因。我们进行了文献数据挖掘(LDM),涉及1988年1月至2016年4月超过2410篇出版物的报道,其中235个基因与该疾病有关。然后,我们进行了基因集富集分析(GSEA)和子网富集分析(SNEA),以研究这些与ADHD相关的基因的功能概况和致病意义。最后,我们进行了网络连通性分析(NCA),以研究报道的基因之间的关联。结果:181/235个基因丰富了100条途径(p结论:我们的结果表明,ADHD的遗传原因与由大量基因组成的遗传和功能网络有关。该基因清单以及文献和提供的富集指标在这项研究中,可以作为该领域进一步生物学/遗传学研究的基础。

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