Immune-mediated disease genetics: the shared basis of pathogenesis

被引：73

作者：

Cotsapas, Chris ^{[1
,2
]}

Hafler, David A. ^{[1
,3
]}

机构：

[1] Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06510 USA

[2] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

[3] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT 06510 USA

来源：

TRENDS IN IMMUNOLOGY | 2013年 / 34卷 / 01期

关键词：

GWAS; shared pathogenesis; disease risk genetics; immune-mediated disease; heritability; GENOME-WIDE ASSOCIATION; MULTIPLE-SCLEROSIS SUSCEPTIBILITY; INFLAMMATORY-BOWEL-DISEASE; CHINESE HAN POPULATION; CROHNS-DISEASE; ULCERATIVE-COLITIS; RHEUMATOID-ARTHRITIS; MISSING HERITABILITY; TYROSINE-PHOSPHATASE; CELIAC-DISEASE;

D O I：

10.1016/j.it.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：

Recent genetic studies in multiple autoimmune and inflammatory diseases have identified hundreds of genomic loci harboring risk variants. These variants are shared between diseases at unexpectedly high rates, providing a molecular basis for the shared pathogenesis of immune-mediated disease. If properly used, these results could allow us to identify specific pathways underlying disease; explain disease heterogeneity by grouping patients by molecular causes rather than overall symptomatology; and develop more rational approaches to diagnosis and therapy targeting these molecular defects. Here we review the current state of play in the genetics of immune-mediated disease, evidence for this sharing and how this new knowledge can lead to medically actionable discoveries of pathobiology.

引用

页码：22 / 26

页数：5

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