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人类主要组织相容性复合体的结构与进化：对疾病关联研究的启示

Human MHC architecture and evolution: implications for disease association studies.

作者信息

Traherne J A

机构信息

Cambridge Institute for Medical Research, Addenbrookes Hospital, Wellcome Trust/MRC Building, Cambridge, UK.

出版信息

Int J Immunogenet. 2008 Jun;35(3):179-92. doi: 10.1111/j.1744-313X.2008.00765.x. Epub 2008 Apr 8.

DOI:10.1111/j.1744-313X.2008.00765.x
PMID:18397301
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2408657/
Abstract

Major histocompatibility complex (MHC) variation is a key determinant of susceptibility and resistance to a large number of infectious, autoimmune and other diseases. Identification of the MHC variants conferring susceptibility to disease is problematic, due to high levels of variation and linkage disequilibrium. Recent cataloguing and analysis of variation over the complete MHC has facilitated localization of susceptibility loci for autoimmune diseases, and provided insight into the MHC's evolution. This review considers how the unusual genetic characteristics of the MHC impact on strategies to identify variants causing, or contributing to, disease phenotypes. It also considers the MHC in relation to novel mechanisms influencing gene function and regulation, such as epistasis, epigenetics and microRNAs. These developments, along with recent technological advances, shed light on genetic association in complex disease.

摘要

主要组织相容性复合体（MHC）变异是决定对大量传染病、自身免疫性疾病和其他疾病易感性及抗性的关键因素。由于变异水平高和连锁不平衡，鉴定赋予疾病易感性的MHC变异存在问题。最近对整个MHC区域变异的编目和分析有助于确定自身免疫性疾病易感性位点的位置，并为MHC的进化提供了见解。本综述探讨了MHC不同寻常的遗传特征如何影响鉴定导致或促成疾病表型的变异的策略。还探讨了与影响基因功能和调控的新机制（如上位性、表观遗传学和微小RNA）相关的MHC。这些进展以及最近的技术进步为复杂疾病中的基因关联研究带来了曙光。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/0003df8b2990/eji0035-0179-f7.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/6c1de8e7b5a5/eji0035-0179-f4.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/0003df8b2990/eji0035-0179-f7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/057286946cd5/eji0035-0179-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/7c919797c752/eji0035-0179-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/82ac5f765604/eji0035-0179-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/6c1de8e7b5a5/eji0035-0179-f4.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/585e/2408657/0003df8b2990/eji0035-0179-f7.jpg

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