The genetics of human autoimmune disease

被引：62

作者：

Invernizzi, Pietro ^{[1
,2
,3
]}

Gershwin, M. Eric ^{[3
]}

机构：

[1] Ist Clin Humanitas, Hepatobiliary Immunopathol Unit, IRCCS, I-20089 Milan, Italy

[2] Ist Clin Humanitas, Div Internal Med, IRCCS, I-20089 Milan, Italy

[3] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Davis, CA 95616 USA

来源：

JOURNAL OF AUTOIMMUNITY | 2009年 / 33卷 / 3-4期

关键词：

Genetic factors; Genome-wide association study; Female preponderance; Sex chromosome; Etiopathogenesis; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENOME-WIDE ASSOCIATION; X-CHROMOSOME INACTIVATION; MULTIPLE-SCLEROSIS SUSCEPTIBILITY; COPY-NUMBER VARIATION; INFLAMMATORY-BOWEL-DISEASE; PRIMARY BILIARY-CIRRHOSIS; TYPE-1 DIABETES SUSCEPTIBILITY; TYROSINE-PHOSPHATASE PTPN22; RHEUMATOID-ARTHRITIS;

D O I：

10.1016/j.jaut.2009.07.008

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Autoimmune diseases are known to have a multifactorial pathogenesis, with both environmental and inherited components. Wide technical progresses together with the completion of the sequencing of human genome have recently allowed the identification of new genetic risk variants in many autoimmune disorders. While part of these studies confirmed previous knowledge, most of the data has disclosed novel and unsuspected roles in the development of autoimmunity for molecules involved in various pathogenic pathways. After the current first wave of data from high-density genome-wide studies, we now need to further characterize these genetic factors and find additional ones, possibly among rare variants. In addition, a role for sex chromosomes in the development of autoimmune diseases has also been suggested. This review will focus on the recent discoveries related to genetics of autoimmunity. (C) 2009 Elsevier Ltd. All rights reserved.

引用

页码：290 / 299

页数：10

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