SCtool:识别复杂性状和疾病间遗传关联的工具

识别复杂性状和疾病间遗传关联可以提供有用的病因学见解,并有助于确定可能的因果关系的优先级。尽管已有很多工具可以实现复杂性状和疾病间遗传关联,但是某些工具代码可读性差、并且不同工具基于不同的计算机语言、工具间的串联性较差。因此,本研究基于全基因组关联研究(GWAS)数据,提出了SCtool,一个开源、跨平台和用户友好的软件工具。SCtool整合了ldsc, TwosampleMR和MR-BMA三种软件,其主要功能是基于GWAS汇总水平的数据,识别复杂性状和疾病、复杂性状和复杂性状以及疾病与疾病间的遗传相关性并探究其间潜在的因果关联。最后,使用SCtool揭示了全身性铁状态(铁蛋白,血清铁,转铁蛋白,转铁蛋白饱和度)与表观遗传时钟GrimAge之间的遗传关联。

SCtool: A tool to identify genetic associations between complex traits and diseases

Identifying genetic associations between complex traits and diseases can provide useful etiological perspectives and help priorities possible causal relationships. Although many tools are available to implement genetic associations between complex traits and diseases, some tools have poor code readability, are based on different computer languages, and have poor inter-tool concatenation. Therefore, this study proposed SCtool, an open source, cross-platform and user-friendly software tool based on genome-wide association study (GWAS) data. The main function is to identify genetic correlations between complex traits and diseases and to explore potential causal associations between complex traits, between diseases, or between disease, based on GWAS summary level data. Finally, SCtool was used to reveal the genetic association between systemic iron status (Ferritin, Serum iron, Transferrin, Transferrin saturation) and epigenetic clock GrimAge.