染色体宽的协会研究(GWAS ) 识别了几千基因和基因变体(主要 SNP ) 在人贡献复杂疾病。功能的描述和这些 SNP 和基因行动的机械学的说明是下一主要挑战。改变编码蛋白质的基因的氨基酸的 SNP 能急速地影响蛋白质功能,这很好被建立了,并且在分子的致病起一个重要作用。规章的 SNP 的函数能复杂、逃犯,并且在 RNA 拼接,抄写因素绑定, DNA methylation 和 miRNA 招募上通过效果包含基因表达式规定。在现在的评论,我们在我们联系 GWAS 的非编码的规章的 SNP 的功能的后果的理解总结最近的进步,并且在 GWAS 调查结果的解释讨论系统遗传和网络生物学的应用程序。
Genome-wide association studies (GWASs) have identified thousands of genes and genetic variants (mainly SNPs) that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.