Defining the role of the MHC in autoimmunity: a review and pooled analysis.
Defining the role of the MHC in autoimmunity: a review and pooled analysis.
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DOI：
10.1371/journal.pgen.1000024
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发表时间：
2008-04-25
期刊：
影响因子：
4.5
通讯作者：
Rioux JD
中科院分区：
文献类型：
--
作者：
Fernando MM;Stevens CR;Walsh EC;De Jager PL;Goyette P;Plenge RM;Vyse TJ;Rioux JD
主要组织相容性复合体（MHC）是人类基因组中研究最广泛的区域之一，因为该位点的变异与自身免疫性、感染性和炎性疾病相关。然而，鉴定大多数这些疾病的MHC内的致病变异体仍然很困难，这是由于在整个该基因座的等位基因之间存在很大的变异性和广泛的连锁不平衡（LD），再加上不充分的研究设计，其中在主要来自欧洲的小群体中，从总共约250个基因中仅研究了约20个的有限子集。我们对过去30年关于MHC在六种遗传复杂疾病特征中的作用的研究进行了回顾和汇总分析-多发性硬化症（MS），1型糖尿病（T1 D），系统性红斑狼疮（SLE），溃疡性结肠炎（UC），克罗恩病（CD），和类风湿性关节炎（RA）-以巩固和评估目前的文献有关MHC遗传学在这些常见的自身免疫性和炎症性疾病。我们证实了已建立的MHC疾病的关联，并确定了以前没有得到重视的易感变异。此外，我们发现了一些有趣的共性和差异，在疾病中，涉及一般和疾病特异性的发病机制，在自身免疫。
The major histocompatibility complex (MHC) is one of the most extensively studied regions in the human genome because of the association of variants at this locus with autoimmune, infectious, and inflammatory diseases. However, identification of causal variants within the MHC for the majority of these diseases has remained difficult due to the great variability and extensive linkage disequilibrium (LD) that exists among alleles throughout this locus, coupled with inadequate study design whereby only a limited subset of about 20 from a total of approximately 250 genes have been studied in small cohorts of predominantly European origin. We have performed a review and pooled analysis of the past 30 years of research on the role of the MHC in six genetically complex disease traits – multiple sclerosis (MS), type 1 diabetes (T1D), systemic lupus erythematosus (SLE), ulcerative colitis (UC), Crohn's disease (CD), and rheumatoid arthritis (RA) – in order to consolidate and evaluate the current literature regarding MHC genetics in these common autoimmune and inflammatory diseases. We corroborate established MHC disease associations and identify predisposing variants that previously have not been appreciated. Furthermore, we find a number of interesting commonalities and differences across diseases that implicate both general and disease-specific pathogenetic mechanisms in autoimmunity.
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影响因子：
6.2
作者：
AMOS, B;WARD, FE;SEIGLER, HF
通讯作者：
SEIGLER, HF
影响因子：
5
作者：
Forabosco, P.;Gorman, J. D.;Criswell, L. A.
通讯作者：
Criswell, L. A.
影响因子：
4.6
作者：
Ding, YJ;Xia, B;Tan, JQ
通讯作者：
Tan, JQ
影响因子：
2.7
作者：
DEGLIESPOSTI, MA;LEAVER, AL;DAWKINS, RL
通讯作者：
DAWKINS, RL
DOI：
10.1073/pnas.80.1.259
发表时间：
1983-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
AWDEH, ZL;RAUM, D;ALPER, CA
通讯作者：
ALPER, CA