Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

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dc.contributor.author Wellcome Trust Case Control Consortium en
dc.contributor.author The Australo-Anglo-American Spondylitis Consortium (TASC) en
dc.date.accessioned 2011-12-06T22:12:54Z en
dc.date.issued 2007 en
dc.identifier.citation Nature Genetics 39:1329-1337 2007 en
dc.identifier.issn 1061-4036 en
dc.identifier.uri http://hdl.handle.net/2292/9827 en
dc.description.abstract We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases. en
dc.publisher Nature Publishing Group en
dc.relation.ispartofseries Nature Genetics en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. Details obtained from http://www.sherpa.ac.uk/romeo/issn/1061-4036/ en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.title Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants en
dc.type Journal Article en
dc.identifier.doi 10.1038/ng.2007.17 en
pubs.begin-page 1329 en
pubs.volume 39 en
dc.rights.holder Copyright: Nature Publishing Group en
dc.identifier.pmid 17952073 en
pubs.declined 2020-02-16T17:35:19.343+1300 en
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pubs.end-page 1337 en
dc.rights.accessrights http://purl.org/eprint/accessRights/RestrictedAccess en
pubs.subtype Article en
pubs.elements-id 254729 en
pubs.org-id Medical and Health Sciences en
pubs.org-id Medical Sciences en
pubs.org-id Molecular Medicine en
pubs.record-created-at-source-date 2011-12-07 en
pubs.dimensions-id 17952073 en


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