Li Jin, Wei Zhi, Hakonarson Hakon
Jin Li, Hakon Hakonarson, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.
World J Gastroenterol. 2016 Jan 21;22(3):949-60. doi: 10.3748/wjg.v22.i3.949.
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.
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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