Chang Le, Zhou Guangyan, Xia Jianguo
Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
Institute of Parasitology, McGill University, Montreal, QC H9X 3V9, Canada.
Metabolites. 2023 Jul 5;13(7):826. doi: 10.3390/metabo13070826.
Metabolomics-based genome-wide association studies (mGWAS) are key to understanding the genetic regulations of metabolites in complex phenotypes. We previously developed mGWAS-Explorer 1.0 to link single-nucleotide polymorphisms (SNPs), metabolites, genes and phenotypes for hypothesis generation. It has become clear that identifying potential causal relationships between metabolites and phenotypes, as well as providing deep functional insights, are crucial for further downstream applications. Here, we introduce mGWAS-Explorer 2.0 to support the causal analysis between >4000 metabolites and various phenotypes. The results can be interpreted within the context of semantic triples and molecular quantitative trait loci (QTL) data. The underlying R package is released for reproducible analysis. Using two case studies, we demonstrate that mGWAS-Explorer 2.0 is able to detect potential causal relationships between arachidonic acid and Crohn's disease, as well as between glycine and coronary heart disease.
基于代谢组学的全基因组关联研究（mGWAS）是理解复杂表型中代谢物遗传调控的关键。我们之前开发了mGWAS-Explorer 1.0，用于将单核苷酸多态性（SNP）、代谢物、基因和表型联系起来以生成假设。很明显，识别代谢物与表型之间的潜在因果关系以及提供深入的功能见解对于进一步的下游应用至关重要。在此，我们推出mGWAS-Explorer 2.0，以支持对4000多种代谢物与各种表型之间的因果分析。结果可以在语义三元组和分子数量性状位点（QTL）数据的背景下进行解释。底层的R包已发布以供可重复分析。通过两个案例研究，我们证明mGWAS-Explorer 2.0能够检测花生四烯酸与克罗恩病之间以及甘氨酸与冠心病之间的潜在因果关系。
