Sökning: WFRF:(Merrill Joan T.) > Genome-wide associa...
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000 | 04005naa a2200781 4500 | |
001 | oai:DiVA.org:uu-102292 | |
003 | SwePub | |
008 | 090506s2008 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1022922 URI |
024 | 7 | a https://doi.org/10.1038/ng.812 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Harley, John B.4 aut |
245 | 1 0 | a Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci |
264 | c 2008-01-20 | |
264 | 1 | b Springer Science and Business Media LLC,c 2008 |
338 | a print2 rdacarrier | |
520 | a 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. | |
653 | a MEDICINE | |
653 | a MEDICIN | |
700 | 1 | a Alarcón-Riquelme, Marta E.u Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)martaala |
700 | 1 | a Criswell, Lindsey A.4 aut |
700 | 1 | a Jacob, Chaim O.4 aut |
700 | 1 | a Kimberly, Robert P.4 aut |
700 | 1 | a Moser, Kathy L.4 aut |
700 | 1 | a Tsao, Betty P.4 aut |
700 | 1 | a Vyse, Timothy J.4 aut |
700 | 1 | a Langefeld, Carl D.4 aut |
700 | 1 | a Nath, Swapan K.4 aut |
700 | 1 | a Guthridge, Joel M.4 aut |
700 | 1 | a Cobb, Beth L.4 aut |
700 | 1 | a Mirel, Daniel B.4 aut |
700 | 1 | a Marion, Miranda C.4 aut |
700 | 1 | a Williams, Adrienne H.4 aut |
700 | 1 | a Divers, Jasmin4 aut |
700 | 1 | a Wang, Wei4 aut |
700 | 1 | a Frank, Summer G.4 aut |
700 | 1 | a Namjou, Bahram4 aut |
700 | 1 | a Gabriel, Stacey B.4 aut |
700 | 1 | a Lee, Annette T.4 aut |
700 | 1 | a Gregersen, Peter K.4 aut |
700 | 1 | a Behrens, Timothy W.4 aut |
700 | 1 | a Taylor, Kimberly E.4 aut |
700 | 1 | a Fernando, Michelle4 aut |
700 | 1 | a Zidovetzki, Raphael4 aut |
700 | 1 | a Gaffney, Patrick M.4 aut |
700 | 1 | a Edberg, Jeffrey C.4 aut |
700 | 1 | a Rioux, John D.4 aut |
700 | 1 | a Ojwang, Joshua O.4 aut |
700 | 1 | a James, Judith A.4 aut |
700 | 1 | a Merrill, Joan T.4 aut |
700 | 1 | a Gilkeson, Gary S.4 aut |
700 | 1 | a Seldin, Michael F.4 aut |
700 | 1 | a Yin, Hongu Uppsala universitet,Institutionen för genetik och patologi4 aut |
700 | 1 | a Baechler, Emily C.4 aut |
700 | 1 | a Li, Quan-Zhen4 aut |
700 | 1 | a Wakeland, Edward K.4 aut |
700 | 1 | a Bruner, Gail R.4 aut |
700 | 1 | a Kaufman, Kenneth M.4 aut |
700 | 1 | a Kelly, Jennifer A.4 aut |
710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 40:2, s. 204-10q 40:2<204-10x 1061-4036x 1546-1718 |
856 | 4 | u https://europepmc.org/articles/pmc3712260?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-102292 |
856 | 4 8 | u https://doi.org/10.1038/ng.81 |
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