Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity.
Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity.
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DOI：
10.1016/j.coi.2012.09.002
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发表时间：
2012-10
影响因子：
7
通讯作者：
De Jager PL
中科院分区：
文献类型：
--
作者：
Stranger BE;De Jager PL
近年来，我们对炎症性疾病易感性的遗传结构的理解有了长足的进步：在人类群体的全基因组关联研究中发现了数百个易感基因座。这一成功在确定这些风险相关变异的功能后果以及阐明个体易感基因的影响如何整合以产生免疫途径的失调并最终导致综合征的临床表型方面产生了重要的挑战。将Gwas关联信号与高分辨率转录组和其他基因组数据相结合，在个体收集易感等位基因的背景下捕捉细胞状态和功能的动态，已被证明是一种成功的研究途径。这一领域方法学发展的快速步伐，加上实验数据的积累，使得阐明这些常见炎症性疾病的易感性背后的复杂生物网络成为近期合理的目标。
There has been considerable progress in our understanding of the genetic architecture of susceptibility to inflammatory diseases in recent years: several hundred susceptibility loci have been discovered in genome-wide association studies (GWAS) of human populations. This success has created an important challenge in identifying the functional consequences of these risk-associated variants and in elucidating how the repercussions of individual susceptibility loci integrate to yield dysregulation of immune pathways and, ultimately, syndromic clinical phenotypes. The integration of GWAS association signals with high-resolution transcriptome and other genomic data that capture the dynamics of cellular state and function in the context of individual's collection of susceptibility alleles has proven to be a successful avenue of investigation. The rapid pace of methodological development in this area has been coupled with an accumulation of experimental data that makes the elucidation of complex biological networks underlying susceptibility to these common inflammatory diseases a reasonable goal in the near future.
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剪接的组织特异性遗传控制：对复杂性状的研究的影响。
影响因子：
9.8
作者：
Heinzen EL;Ge D;Cronin KD;Maia JM;Shianna KV;Gabriel WN;Welsh-Bohmer KA;Hulette CM;Denny TN;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
8.2
作者：
Below, J. E.;Gamazon, E. R.;Morrison, J. V.;Konkashbaev, A.;Pluzhnikov, A.;McKeigue, P. M.;Parra, E. J.;Elbein, S. C.;Hallman, D. M.;Nicolae, D. L.;Bell, G. I.;Cruz, M.;Cox, N. J.;Hanis, C. L.
通讯作者：
Hanis, C. L.
影响因子：
30.8
作者：
Fairfax, Benjamin P.;Makino, Seiko;Radhakrishnan, Jayachandran;Plant, Katharine;Leslie, Stephen;Dilthey, Alexander;Ellis, Peter;Langford, Cordelia;Vannberg, Fredrik O.;Knight, Julian C.
通讯作者：
Knight, Julian C.
影响因子：
4.5
作者：
Libioulle C;Louis E;Hansoul S;Sandor C;Farnir F;Franchimont D;Vermeire S;Dewit O;de Vos M;Dixon A;Demarche B;Gut I;Heath S;Foglio M;Liang L;Laukens D;Mni M;Zelenika D;Van Gossum A;Rutgeerts P;Belaiche J;Lathrop M;Georges M
通讯作者：
Georges M
影响因子：
4.5
作者：
Gerrits A;Li Y;Tesson BM;Bystrykh LV;Weersing E;Ausema A;Dontje B;Wang X;Breitling R;Jansen RC;de Haan G
通讯作者：
de Haan G