Defining the role of the MHC in autoimmunity: a review and pooled analysis. Fernando, M. M. A., Stevens, C. R., Walsh, E. C., De Jager, P. L., Goyette, P., Plenge, R. M., Vyse, T. J., & Rioux, J. D. PLoS genetics, 4(4):e1000024, April, 2008.
doi  abstract   bibtex   
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.
@article{fernando_defining_2008,
	title = {Defining the role of the {MHC} in autoimmunity: a review and pooled analysis},
	volume = {4},
	issn = {1553-7404},
	shorttitle = {Defining the role of the {MHC} in autoimmunity},
	doi = {10.1371/journal.pgen.1000024},
	abstract = {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.},
	language = {eng},
	number = {4},
	journal = {PLoS genetics},
	author = {Fernando, Michelle M. A. and Stevens, Christine R. and Walsh, Emily C. and De Jager, Philip L. and Goyette, Philippe and Plenge, Robert M. and Vyse, Timothy J. and Rioux, John D.},
	month = apr,
	year = {2008},
	pmid = {18437207},
	pmcid = {PMC2291482},
	keywords = {Alleles, Arthritis, Rheumatoid, Autoimmunity, Colitis, Ulcerative, Crohn Disease, Diabetes Mellitus, Type 1, Genetic Predisposition to Disease, Haplotypes, Humans, Linkage Disequilibrium, Lupus Erythematosus, Systemic, Major Histocompatibility Complex, Multiple Sclerosis},
	pages = {e1000024}
}
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