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

THRESHOLD:

<= 0.05

GENES IN THRESHOLD:

10

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

JB Harley, ME Alarcón-Riquelme, LA Criswell, CO Jacob, RP Kimberly, KL Moser, BP Tsao, TJ Vyse, CD Langefeld, SK Nath, JM Guthridge, BL Cobb, DB Mirel, MC Marion, AH Williams, J Divers, W Wang, SG Frank, B Namjou, SB Gabriel, AT Lee, PK Gregersen, TW Behrens, KE Taylor, M Fernando, R Zidovetzki, PM Gaffney, JC Edberg, JD Rioux, JO Ojwang, JA James, JT Merrill, GS Gilkeson, MF Seldin, H Yin, EC Baechler, QZ Li, EK Wakeland, GR Bruner, KM Kaufman, JA Kelly

TITLE:

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

JOURNAL:

Nature genetics Feb 2008, Vol 40, pp. 204-10

ABSTRACT:

Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families (lambda(S) = approximately 30). We performed a genome-wide association scan using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337 controls, and we genotyped consistently associated SNPs in two additional independent sample sets totaling 1,846 affected women and 1,825 controls. Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). We also found evidence for association (P < 1 x 10(-5)) at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at > or =9 other loci (P < 2 x 10(-7)). Our results show that numerous genes, some with known immune-related functions, predispose to SLE. PUBMED: 18204446
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