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Genetic association...
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
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Bentham, James (author)
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Morris, David L (author)
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Cunninghame Graham, Deborah S (author)
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Pinder, Christopher L (author)
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Tombleson, Philip (author)
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Behrens, Timothy W (author)
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Martín, Javier (author)
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Fairfax, Benjamin P (author)
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Knight, Julian C (author)
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Chen, Lingyan (author)
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Replogle, Joseph (author)
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab
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- Rönnblom, Lars (author)
- Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab
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Graham, Robert R (author)
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Wither, Joan E (author)
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Rioux, John D (author)
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Alarcón-Riquelme, Marta E (author)
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Vyse, Timothy J (author)
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(creator_code:org_t)
- 2015-10-26
- 2015
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 47:12, s. 1457-1464
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new GWAS, a meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including ten new associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n = 16) of transcription factors among SLE susceptibility genes. This finding supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Bentham, James
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Morris, David L
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Cunninghame Grah ...
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Pinder, Christop ...
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Tombleson, Phili ...
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Behrens, Timothy ...
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show more...
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Martín, Javier
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Fairfax, Benjami ...
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Knight, Julian C
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Chen, Lingyan
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Replogle, Joseph
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Syvänen, Ann-Chr ...
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Rönnblom, Lars
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Graham, Robert R
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Wither, Joan E
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Rioux, John D
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Alarcón-Riquelme ...
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Vyse, Timothy J
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Uppsala University