What have we learned from six years of GWAS in autoimmune diseases, and what is next?

被引：24

作者：

Hu, Xinli ^{[1
,2
,3
,4
]}

Daly, Mark ^{[4
,5
,6
]}

机构：

[1] Harvard Univ, Sch Med, Harvard MIT Div Hlth Sci & Technol, Boston, MA USA

[2] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Rheumatol, Boston, MA 02115 USA

[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA

[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[5] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA

[6] Harvard Univ, Sch Med, Boston, MA 02114 USA

来源：

CURRENT OPINION IN IMMUNOLOGY | 2012年 / 24卷 / 05期

关键词：

GENOME-WIDE ASSOCIATION; INFLAMMATORY-BOWEL-DISEASE; RHEUMATOID-ARTHRITIS; CELIAC-DISEASE; SUSCEPTIBILITY VARIANTS; GENE-EXPRESSION; RARE VARIANTS; RISK; HERITABILITY; INCREASES;

D O I：

10.1016/j.coi.2012.09.001

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Genome-wide association studies (GWAS) have discovered hundreds of common genetic variants that predispose humans to autoimmune diseases, opening up unprecedented potential for elucidating the pathways and processes of disease. To understand the role of these variants in susceptibility, we need to derive mechanistic insight by integration of genetic results with other biological data types and also with careful functional studies. In many cases, such studies have highlighted coherent biological processes at a high level and elucidated specific mechanisms that contribute to autoimmunity and inflammation. The understanding of the genetic component of autoimmune etiology will become more complete as fine-mapping and sequencing data become readily available. A comprehensive catalog of human immune phenotypes could provide a functional basis for assessing genetic influence on immune function and variation in response to therapeutic interventions, as well as for rationally designing new targeted therapeutics.

引用

页码：571 / 575

页数：5

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