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18204446
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

Nat Genet, 2008/2;40(2):204-10.

International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)[1], Harley JB, Alarcón-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

Affiliations

PMID: 18204446DOI: 10.1038/ng.81

Impact factor: 41.307

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.
MeSH terms
Alleles; Area Under Curve; CD11b Antigen; Case-Control Studies; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 6; Cohort Studies; Confidence Intervals; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Genome, Human; HLA Antigens; Haplotypes; Humans; Interferon Regulatory Factors; Intracellular Signaling Peptides and Proteins; Linkage Disequilibrium; Logistic Models; Lupus Erythematosus, Systemic; Nerve Tissue Proteins; Odds Ratio; Polymorphism, Single Nucleotide; Protein Serine-Threonine Kinases; Protein Tyrosine Phosphatase, Non-Receptor Type 22; ROC Curve; Risk Factors; STAT4 Transcription Factor; White People
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