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PMID: 18397301 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

International journal of immunogenetics ·Vol. 35 ·No. 3 ·2008-06-00 ·Pages 179-92

Traherne JA

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.

MeSH Terms
Alleles Biological Evolution Epigenesis, Genetic Epistasis, Genetic Genetic Linkage Genetic Predisposition to Disease Genetic Variation Genotype Haplotypes Humans Major Histocompatibility Complex/genetics,immunology MicroRNAs/genetics Multigene Family Phenotype Polymorphism, Genetic
Chemicals
MicroRNAs
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Traherne J A
Cambridge Institute for Medical Research, Addenbrookes Hospital, Wellcome Trust/MRC Building, Cambridge, UK. [email protected]
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Article Info
Journal
International journal of immunogenetics
Abbr.
Int J Immunogenet
ISSN
1744-313X
DOI
10.1111/j.1744-313X.2008.00765.x
Email
[email protected]
Published
2008-06-00
Epub
2008-00-08
Pages
179-92
Language
English
Region
England
NLM ID
101232337
PMCID
PMC2408657
Subset
IM
Grants
Medical Research Council · United Kingdom
External Links
PubMed source DOI: 10.1111/j.1744-313X.2008.00765.x PMC Full Text View journal details
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