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

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

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

,John B Harley,Marta E ,Lindsey A Criswell,Chaim O Jacob,Robert P Kimberly,Kathy L Moser,Betty P Tsao,Timothy J Vyse,Carl D Langefeld, ,John B Harley,Marta E ,Lindsey A Criswell,Chaim O Jacob,Robert P Kimberly,Kathy L Moser,Betty P Tsao,Timothy J Vyse,Carl D Langefeld,Swapan K Nath,Joel M Guthridge,Beth L Cobb,Daniel B Mirel,Miranda C Marion,Adrienne H Williams,Jasmin Divers,Wei Wang,Summer G Frank,Bahram Namjou,Stacey B Gabriel,Annette T Lee,Peter K Gregersen,Timothy W Behrens,Kimberly E Taylor,Michelle Fernando,Raphael Zidovetzki,Patrick M Gaffney,Jeffrey C Edberg,John D Rioux,Joshua O Ojwang,Judith A James,Joan T Merrill,Gary S Gilkeson,Michael F Seldin,Hong Yin,Emily C Baechler,Quan-Zhen Li,Edward K Wakeland,Gail R Bruner,Kenneth M Kaufman,Jennifer A Kelly,

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.

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

,JB Harley,ME ,LA Criswell,CO Jacob,RP Kimberly,KL Moser,BP Tsao,TJ Vyse,CD Langefeld, ,JB Harley,ME ,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,

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

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Nature genetics

VOLUME: 40

Page Numbers: 204-10

Journal Abbreviation: Nat. Genet.

ISSN: 1546-1718

DAY: 20

MONTH: 01

YEAR: 2008

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

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LANGUAGE: eng

NlmUniqueID: 9216904

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

AFFILIATION: Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, Oklahoma 73104, USA. SLEGEN@wfubmc.edu

Country: United States

AGENCY: United States NCRR

GRANT: RR020278

ACRONYM: RR

MEDLINETA: Nat Genet

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