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DMRdb:一种以疾病为中心的门德尔随机化数据库,用于系统地评估疾病与基因,蛋白质,CpG位点,代谢物和其他疾病的因果关系

Xiao Zheng¹, Zhihao Tian¹, Xiaohui Che¹

¹Basic Medicine Research and Innovation Center for Novel Target and Therapeutic Intervention, Ministry of Education, College of Pharmacy, and Precision Medicine Center, the Second Affiliated Hospital, Chongqing Medical University, Chongqing 400016, China.

Nucleic acids research

|October 1, 2024

概括

DMRdb是一个新的数据库,使用门德尔随机化 (MR) 来探索疾病因果关系. 它系统地评估疾病与基因,蛋白质和代谢物之间的联系,帮助疾病机制研究.

科学领域:

遗传学和生物信息学遗传学和生物信息学
系统生物学系统生物学
疾病机制研究研究疾病机制研究

背景情况:

了解疾病与各种分子和临床因素之间的因果关系在生命科学中至关重要.
大规模的门德尔随机化 (MR) 研究目前有限,阻碍了全面的因果推断.
现有的研究缺乏一个集中资源,用于系统的因果关系评估.

研究的目的:

介绍DMRdb,一个新的以疾病为中心的门德尔随机化数据库.
系统地评估疾病与基因,蛋白质,CpG部位,代谢物和其他疾病之间的因果关系.
为促进疾病机制的理解和确定治疗点提供宝贵的资源.

主要方法:

编制了6640个高质量,过和标准化的疾病全基因组关联研究 (GWAS).
使用GWAS数据与表达量特征位点 (eQTL),蛋白质量特征位点 (pQTL),甲基化量特征位点 (meQTL) 和代谢物数据相结合,进行了广泛的MR分析.
整合了来自1223个相关文献来源的38万多个因果关系对.

主要成果:

该数据库包含6640个疾病GWAS数据集和超过4970亿个MR分析结果.
包括16238个eQTL,2564个pQTL,12000个meQTL和825个代谢物的数据.
包括一个精心策划的38万多个文学衍生因果关系对的集合.

结论:

DMRdb为探索疾病因果关系提供了一个全面的资源.
促进对影响疾病的遗传,分子和临床因素的系统调查.
旨在通过因果推理加速新生物标志物和治疗点的发现.

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