Clinical implications of shared genetics and pathogenesis in autoimmune diseases

被引:122
作者
Zhernakova, Alexandra [1 ]
Withoff, Sebo [1 ]
Wijmenga, Cisca [1 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
基金
欧洲研究理事会;
关键词
GENOME-WIDE ASSOCIATION; SYSTEMIC-LUPUS-ERYTHEMATOSUS; NF-KAPPA-B; PSORIASIS SUSCEPTIBILITY LOCI; VOLATILE ORGANIC-COMPOUNDS; RHEUMATOID-ARTHRITIS; CELIAC-DISEASE; CIRCULATING MICRORNA; ADDISONS-DISEASE; MULTIPLE COMMON;
D O I
10.1038/nrendo.2013.161
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison disease and Hashimoto disease, originate as an autoimmune reaction that affects disease-specific target organs. These autoimmune diseases are characterized by the development of specific autoantibodies and by the presence of autoreactive T cells. They are caused by a complex genetic predisposition that is attributable to multiple genetic variants, each with a moderate-to-low effect size. Most of the genetic variants associated with a particular autoimmune endocrine disease are shared between other systemic and organ-specific autoimmune and inflammatory diseases, such as rheumatoid arthritis, coeliac disease, systemic lupus erythematosus and psoriasis. Here, we review the shared and specific genetic background of autoimmune diseases, summarize their treatment options and discuss how identifying the genetic and environmental factors that predispose patients to an autoimmune disease can help in the diagnosis and monitoring of patients, as well as the design of new treatments.
引用
收藏
页码:646 / 659
页数:14
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