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计算方法在炎症性肠病遗传学研究中的应用。

Application of computational methods in genetic study of inflammatory bowel disease.

作者信息

Li Jin, Wei Zhi, Hakonarson Hakon

机构信息

Jin Li, Hakon Hakonarson, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.

出版信息

World J Gastroenterol. 2016 Jan 21;22(3):949-60. doi: 10.3748/wjg.v22.i3.949.


DOI:10.3748/wjg.v22.i3.949
PMID:26811639
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4716047/
Abstract

Genetic factors play an important role in the etiology of inflammatory bowel disease (IBD). The launch of genome-wide association study (GWAS) represents a landmark in the genetic study of human complex disease. Concurrently, computational methods have undergone rapid development during the past a few years, which led to the identification of numerous disease susceptibility loci. IBD is one of the successful examples of GWAS and related analyses. A total of 163 genetic loci and multiple signaling pathways have been identified to be associated with IBD. Pleiotropic effects were found for many of these loci; and risk prediction models were built based on a broad spectrum of genetic variants. Important gene-gene, gene-environment interactions and key contributions of gut microbiome are being discovered. Here we will review the different types of analyses that have been applied to IBD genetic study, discuss the computational methods for each type of analysis, and summarize the discoveries made in IBD research with the application of these methods.

摘要

遗传因素在炎症性肠病(IBD)的病因中起着重要作用。全基因组关联研究(GWAS)的开展是人类复杂疾病遗传学研究的一个里程碑。与此同时,计算方法在过去几年中得到了迅速发展,这使得众多疾病易感位点得以识别。IBD是GWAS及相关分析的成功范例之一。总共已确定163个遗传位点和多个信号通路与IBD相关。其中许多位点具有多效性;并且基于广泛的遗传变异构建了风险预测模型。重要的基因-基因、基因-环境相互作用以及肠道微生物群的关键作用正在被发现。在此,我们将回顾应用于IBD遗传学研究的不同类型分析,讨论每种分析类型的计算方法,并总结应用这些方法在IBD研究中所取得的发现。

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本文引用的文献

[1]
Gene-environment interactions in inflammatory bowel disease pathogenesis.

Curr Opin Gastroenterol. 2015-7

[2]
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.

Science. 2015-5-8

[3]
Integrative analysis of 111 reference human epigenomes.

Nature. 2015-2-19

[4]
Contentious host-microbiota relationship in inflammatory bowel disease--can foes become friends again?

Scand J Gastroenterol. 2015-1

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PLoS Genet. 2014-11-13

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Ann Gastroenterol. 2014

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Nat Rev Genet. 2014-9-9

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J Med Genet. 2014-11

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Trends Genet. 2014-9

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