自提出全基因组关联研究(genome-wide association study,GWAS)设想以来,在人类复杂疾病和水稻农艺性状关联研究方面,GWAS已得到广泛运用.但作为一种典型的单标记研究方法,GWAS不能检测小效应的遗传变异,而稀有变异间的联合效应往往与表型密切相关,因此,需对GWAS结果进行深入的数据挖掘.基于通路的分析方法(pathway-based analysis,PBA)就是利用基因功能、生物代谢通路等相关信息建立的对GWAS结果进行二次挖掘的方法.该方法能从GWAS结果挖掘出与性状、疾病相关联的通路及具有相同功能的基因集等数据,从而获得更多的遗传信息.现对PBA的出现、计算方法和相关软件进行简要综述,以期为人们进行通路分析提供参考.
A Brief Review of the PBA Methods for Follow-up Study of the GWAS Results
With the idea of genome-wide association study (GWAS) presented,it has been widely used in rice agronomic traits and human complex disease.GWAS typically focuses on the analysis of single markers,and is unable to cover the relatively small effect sizes of genetic variants.However,the combined effect of rare variants is often closely associated with phenotypes.It requires in-depth data mining from GWAS results.Pathway-based analysis (PBA) method has been developed,which uses prior biological knowledge on gene function and biological metabolic pathways.By using PBA,more information about the pathway and gene sets with same functions which are associated with the diseases or traits from GWAS result could be obtained.In order to offer more reference to pathway-based analysis,the development,methods and related software of the PBA were introduced.
genome-wide association study (GWAS)pathway-based analysis (PBA)single nucleotide polymorphism (SNP)bioinformaticsdiseaseagronomic traits
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