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Approaches and advances in the genetic causes of autoimmune disease and their implications

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cam.issuedOnline2018-06-20
dc.contributor.authorInshaw, JRJ
dc.contributor.authorCutler, AJ
dc.contributor.authorBurren, OS
dc.contributor.authorStefana, MI
dc.contributor.authorTodd, JA
dc.contributor.orcidBurren, Oliver [0000-0002-3388-5760]
dc.date.accessioned2018-09-13T13:24:44Z
dc.date.available2018-09-13T13:24:44Z
dc.date.issued2018-06-20
dc.description.abstractGenome-wide association studies are transformative in revealing the polygenetic basis of common diseases, with autoimmune diseases leading the charge. Although the field is just over 10 years old, advances in understanding the underlying mechanistic pathways of these conditions, which result from a dense multifactorial blend of genetic, developmental and environmental factors, have already been informative, including insights into therapeutic possibilities. Nevertheless, the challenge of identifying the actual causal genes and pathways and their biological effects on altering disease risk remains for many identified susceptibility regions. It is this fundamental knowledge that will underpin the revolution in patient stratification, the discovery of therapeutic targets and clinical trial design in the next 20 years. Here we outline recent advances in analytical and phenotyping approaches and the emergence of large cohorts with standardized gene-expression data and other phenotypic data that are fueling a bounty of discovery and improved understanding of human physiology.
dc.identifier.doi10.17863/CAM.27625
dc.identifier.eissn1529-2916
dc.identifier.issn1529-2908
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/280256
dc.languageeng
dc.language.isoeng
dc.publisherSpringer Nature
dc.publisher.urlhttps://www.nature.com/articles/s41590-018-0129-8
dc.subjectAutoimmune Diseases
dc.subjectChromosome Mapping
dc.subjectGenetic Variation
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectInfections
dc.subjectMicrobiota
dc.subjectRandom Allocation
dc.subjectSample Size
dc.titleApproaches and advances in the genetic causes of autoimmune disease and their implications
dc.typeArticle
dcterms.dateAccepted2018-04-04
prism.endingPage684
prism.publicationDate2018
prism.publicationNameNature Immunology
prism.startingPage674
prism.volume19
pubs.funder-project-idWellcome Trust (107881/Z/15/Z)
rioxxterms.licenseref.startdate2018-06-20
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review
rioxxterms.versionAM
rioxxterms.versionofrecord10.1038/s41590-018-0129-8

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