Genetics of rheumatoid arthritis: GWAS and beyond

Kate McAllister, Stephen Eyre, Gisela OrozcoArthritis Research United Kingdom Epidemiology Unit, Manchester Academic Health Science Centre, University of Manchester, UKAbstract: The study of complex genetics in autoimmune diseases has progressed at a tremendous pace over the last 4 years, as a direc...

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Autores principales: McAllister KM, Eyre S, Orozco G
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Publicado: Dove Medical Press 2011
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spelling oai:doaj.org-article:53f6db705e124916984eb0f1cf128df62021-12-02T05:48:25ZGenetics of rheumatoid arthritis: GWAS and beyond1179-156Xhttps://doaj.org/article/53f6db705e124916984eb0f1cf128df62011-06-01T00:00:00Zhttp://www.dovepress.com/genetics-of-rheumatoid-arthritis-gwas-and-beyond-a7595https://doaj.org/toc/1179-156XKate McAllister, Stephen Eyre, Gisela OrozcoArthritis Research United Kingdom Epidemiology Unit, Manchester Academic Health Science Centre, University of Manchester, UKAbstract: The study of complex genetics in autoimmune diseases has progressed at a tremendous pace over the last 4 years, as a direct result of the enormous gains made by genome wide association studies (GWAS). Novel genetic findings are continuously being reported alongside the rapid development of genetic technologies, sophisticated statistical analysis, and larger sample collections. It is now becoming clear that multiple genes contribute to disease risk in many complex genetic disorders including rheumatoid arthritis (RA) and that there are common genetic risk factors that underlie a spectrum of autoimmune diseases. This review details the current genetic landscape of RA, and describes what GWAS has taught us in terms of missing heritability, subsets of disease, existence of genetic heterogeneity, and shared autoimmune risk loci. Finally, this review addresses the initial challenges faced in translating the wealth of genetic findings into determining the biological mechanisms that contribute to the relationship between genotype and phenotype. Unraveling the mechanism of how genes directly influence the cause of RA will lead to a better understanding of the disease and will ultimately have a direct clinical impact, informing the development of new therapies that can be utilized in the treatment of RA.Keywords: rheumatoid arthritis, GWAS, fine mapping, immunochip, bioinformaticsMcAllister KMEyre SOrozco GDove Medical PressarticleDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol 2011, Iss default, Pp 31-46 (2011)
institution DOAJ
collection DOAJ
language EN
topic Diseases of the musculoskeletal system
RC925-935
spellingShingle Diseases of the musculoskeletal system
RC925-935
McAllister KM
Eyre S
Orozco G
Genetics of rheumatoid arthritis: GWAS and beyond
description Kate McAllister, Stephen Eyre, Gisela OrozcoArthritis Research United Kingdom Epidemiology Unit, Manchester Academic Health Science Centre, University of Manchester, UKAbstract: The study of complex genetics in autoimmune diseases has progressed at a tremendous pace over the last 4 years, as a direct result of the enormous gains made by genome wide association studies (GWAS). Novel genetic findings are continuously being reported alongside the rapid development of genetic technologies, sophisticated statistical analysis, and larger sample collections. It is now becoming clear that multiple genes contribute to disease risk in many complex genetic disorders including rheumatoid arthritis (RA) and that there are common genetic risk factors that underlie a spectrum of autoimmune diseases. This review details the current genetic landscape of RA, and describes what GWAS has taught us in terms of missing heritability, subsets of disease, existence of genetic heterogeneity, and shared autoimmune risk loci. Finally, this review addresses the initial challenges faced in translating the wealth of genetic findings into determining the biological mechanisms that contribute to the relationship between genotype and phenotype. Unraveling the mechanism of how genes directly influence the cause of RA will lead to a better understanding of the disease and will ultimately have a direct clinical impact, informing the development of new therapies that can be utilized in the treatment of RA.Keywords: rheumatoid arthritis, GWAS, fine mapping, immunochip, bioinformatics
format article
author McAllister KM
Eyre S
Orozco G
author_facet McAllister KM
Eyre S
Orozco G
author_sort McAllister KM
title Genetics of rheumatoid arthritis: GWAS and beyond
title_short Genetics of rheumatoid arthritis: GWAS and beyond
title_full Genetics of rheumatoid arthritis: GWAS and beyond
title_fullStr Genetics of rheumatoid arthritis: GWAS and beyond
title_full_unstemmed Genetics of rheumatoid arthritis: GWAS and beyond
title_sort genetics of rheumatoid arthritis: gwas and beyond
publisher Dove Medical Press
publishDate 2011
url https://doaj.org/article/53f6db705e124916984eb0f1cf128df6
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AT eyres geneticsofrheumatoidarthritisgwasandbeyond
AT orozcog geneticsofrheumatoidarthritisgwasandbeyond
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