Genetic insights into common pathways and complex relationships among iImmune-mediated diseases
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2013
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Resumo |
Shared aetiopathogenic factors among immune-mediated diseases have long been suggested by their co-familiality and co-occurrence, and molecular support has been provided by analysis of human leukocyte antigen (HLA) haplotypes and genome-wide association studies. The interrelationships can now be better appreciated following the genotyping of large immune disease sample sets on a shared SNP array: the 'Immunochip'. Here, we systematically analyse loci shared among major immune-mediated diseases. This reveals that several diseases share multiple susceptibility loci, but there are many nuances. The most associated variant at a given locus frequently differs and, even when shared, the same allele often has opposite associations. Interestingly, risk alleles conferring the largest effect sizes are usually disease-specific. These factors help to explain why early evidence of extensive 'sharing' is not always reflected in epidemiological overlap. © 2013 Macmillan Publishers Limited. All rights reserved. |
Identificador | |
Publicador |
Nature Publishing Group |
Relação |
DOI:10.1038/nrg3502 Parkes, M., Cortes, A., Van Heel, D. A., & Brown, M. A. (2013) Genetic insights into common pathways and complex relationships among iImmune-mediated diseases. Nature Reviews Genetics, 14(9), pp. 661-673. |
Direitos |
© 2013 Macmillan Publishers Limited |
Fonte |
School of Biomedical Sciences; Faculty of Health; Institute of Health and Biomedical Innovation |
Palavras-Chave | #HLA antigen class 2 #I kappa B #interferon regulatory factor #interleukin 23 #allele #ankylosing spondylitis #autoimmune disease #bioinformatics #celiac disease #Crohn disease #effect size #enteritis #environmental exposure #ethnicity #gene frequency #gene linkage disequilibrium #gene locus #genetic association #genetic susceptibility #genotype #heritability #HLA system #insulin dependent diabetes mellitus #lymphocyte activation #multiple sclerosis #priority journal #psoriasis #review #rheumatoid arthritis #single nucleotide polymorphism #systemic lupus erythematosus #Alleles #Animals #Chromosome Mapping #Environment #Gene-Environment Interaction #Genetic Predisposition to Disease #Genome-Wide Association Study #Humans #Immune System Diseases #Quantitative Trait Loci #Signal Transduction |
Tipo |
Journal Article |