Journal
NATURE GENETICS
Volume 47, Issue 12, Pages 1457-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.3434
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Funding
- George Koukis Foundation
- Arthritis Research UK Special Strategic Award [19289]
- Instituto de Salud Carlos III [PS09/00129]
- FEDER funds of the European Union
- Consejeria de Salud de Andalucia [PI0012]
- Swedish Research Council of Medicine
- European Science Foundation
- Arthritis Research UK Special Strategic Award
- Canadian Institutes of Health Research [94825]
- Wellcome Trust grant [085492]
- China Scholarship Council [201406380127]
- National Institute for Health Research (NIHR) Biomedical Research Centre
- King's College London
- National Institute on Aging [U01AG009740, RC2AG036495, RC4AG039029]
- US National Institutes of Health (NIH) [3P50CA093459, 5P50CA097007, 5R01ES011740, 5R01CA133996]
- Genes and Blood Clotting Study was provided through the US NIH/National Heart, Lung, and Blood Institute (NHLBI) [R37HL039693]
- US NIH/NHLBI [R37HL039693]
- Howard Hughes Medical Institute
- Academy of Medical Sciences (AMS) [AMS-SGCL13-Fairfax] Funding Source: researchfish
- National Institute for Health Research [CL-2012-13-004] Funding Source: researchfish
- Versus Arthritis [19289] Funding Source: researchfish
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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.
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