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Genetic Study of Complex Diseases in the Post-GWAS Era 被引量：10

Genetic Study of Complex Diseases in the Post-GWAS Era
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摘要 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. 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.
作者 Qingyang Huang
机构地区 College of Life Sciences
出处 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2015年第3期87-98,共12页 遗传学报（英文版）
基金 supported by the National Natural Science Foundation of China (Nos. 31371275 and 30971635) the National Basic Research Program of China (973 Program) (No. 2011CB504004) self-determined research funds of CCNU from the colleges’ basic research and operation of MOE (No. CCNU14Z01003)
关键词 SNP Genome-wide association study Complex diseases Systems genetics Network biology SNP Genome-wide association study Complex diseases Systems genetics Network biology
分类号 R394 [医药卫生—医学遗传学]
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Journal of Genetics and Genomics
2015年 第3期

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