GeneSet Information

Tier I GS268483 • GWAS Catalog Data for systemic lupus erythematosus in 5,201 European ancestry cases, 9,066 European ancestry controls

DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Systemic lupus erythematosus. The EFO term systemic lupus erythematosus was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: systemic lupus erythematosus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

J Bentham, DL Morris, DS Cunninghame Graham, CL Pinder, P Tombleson, TW Behrens, J Martín, BP Fairfax, JC Knight, L Chen, J Replogle, AC Syvänen, L Rönnblom, RR Graham, JE Wither, JD Rioux, ME Alarcón-Riquelme, TJ Vyse

TITLE:

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

JOURNAL:

Nature genetics Dec 2015, Vol 47, pp. 1457-64

ABSTRACT:

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. PUBMED: 26502338
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systemic lupus erythematosus (EFO:0002690)

Gene List • 111 Genes

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