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

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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

Authors: Harley, JB  Alarcon-Riquelme, ME  Criswell, LA  Jacob, CO  Kimberly, RP  Moser, KL  Tsao, BP  Vyse, TJ  Langefeld, CD  Nath, SK  Guthridge, JM  Cobb, BL  Mirel, DB  Marion, MC  Williams, AH  Divers, J  Wang, W  Frank, SG  Namjou, B  Gabriel, SB  Lee, AT  Gregersen, PK  Behrens, TW  Taylor, KE  Fernando, M  Zidovetzki, R  Gaffney, PM  Edberg, JC  Rioux, JD  Ojwang, JO  James, JA  Merrill, JT  Gilkeson, GS  Seldin, MF  Yin, H  Baechler, EC  Li, QZ  Wakeland, EK  Bruner, GR  Kaufman, KM  Kelly, JA  Kelly, Jennifer A 
Citation: Harley JB, etal., Nat Genet. 2008 Feb;40(2):204-10. Epub 2008 Jan 20.
RGD ID: 5147926
Pubmed: PMID:18204446   (View Abstract at PubMed)
PMCID: PMC3712260   (View Article at PubMed Central)
DOI: DOI:10.1038/ng.81   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumansystemic lupus erythematosus  IAGP DNA:SNP (human)RGD 
Fcgr2aRatsystemic lupus erythematosus  ISOFCGR2A (Homo sapiens)DNA:SNP (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fcgr2a  (Fc gamma receptor 2A)

Genes (Homo sapiens)
FCGR2A  (Fc gamma receptor IIa)


Additional Information