Sökning: onr:"swepub:oai:DiVA.org:uu-174377" > Identification of I...
Fältnamn | Indikatorer | Metadata |
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000 | 05447naa a2200985 4500 | |
001 | oai:DiVA.org:uu-174377 | |
003 | SwePub | |
008 | 120515s2012 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:124418557 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1743772 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2012.02.0232 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1244185572 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Lessard, Christopher J.4 aut |
245 | 1 0 | a Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study |
264 | 1 | b Elsevier BV,c 2012 |
338 | a print2 rdacarrier | |
520 | a Systemic lupus erythematosus (SLE) is a chronic heterogeneous autoimmune disorder characterized by the loss of tolerance to self-antigens and dysregulated interferon responses. The etiology of SLE is complex, involving both heritable and environmental factors. Candidate-gene studies and genome-wide association (GWA) scans have been successful in identifying new loci that contribute to disease susceptibility; however, much of the heritable risk has yet to be identified. In this study, we sought to replicate 1,580 variants showing suggestive association with SLE in a previously published GWA scan of European Americans; we tested a multiethnic population consisting of 7,998 SLE cases and 7,492 controls of European, African American, Asian, Hispanic, Gullah, and Amerindian ancestry to find association with the disease. Several genes relevant to immunological pathways showed association with SLE. Three loci exceeded the genome-wide significance threshold: interferon regulatory factor 8 (IRF8; rs11644034; p(meta-Euro) = 2.08 x 10(-10)), transmembrane protein 39A (TMEM39A; rs1132200; p(meta-all) 8.62 x 10(-9)), and 17q21 (rs1453560; p(meta-all) = 3.48 x 10(-10)) between IKAROS family of zinc finger 3 (AIOLOS; IKZF3) and zona pellucida binding protein 2 (ZPBP2). Fine mapping, resequencing, imputation, and haplotype analysis of IRF8 indicated that three independent effects tagged by rs8046526, rs450443, and rs4843869, respectively, were required for risk in individuals of European ancestry. Eleven additional replicated effects (5 x 10(-8) < p(meta-Euro) < 9.99 x 10(-5)) were observed with CFHR1, CADM2, LOC730109/IL12A, LPP, LOC63920, SLU7, ADAMTSL1, C10orf64, OR8D4 FAM19A2, and STXBP6. The results of this study increase the number of confirmed SLE risk loci and identify others warranting further investigation. | |
700 | 1 | a Adrianto, Indra4 aut |
700 | 1 | a Ice, John A.4 aut |
700 | 1 | a Wiley, Graham B.4 aut |
700 | 1 | a Kelly, Jennifer A.4 aut |
700 | 1 | a Glenn, Stuart B.4 aut |
700 | 1 | a Adler, Adam J.4 aut |
700 | 1 | a Li, He4 aut |
700 | 1 | a Rasmussen, Astrid4 aut |
700 | 1 | a Williams, Adrienne H.4 aut |
700 | 1 | a Ziegler, Julie4 aut |
700 | 1 | a Comeau, Mary E.4 aut |
700 | 1 | a Marion, Miranda4 aut |
700 | 1 | a Wakeland, Benjamin E.4 aut |
700 | 1 | a Liang, Chaoying4 aut |
700 | 1 | a Ramos, Paula S.4 aut |
700 | 1 | a Grundahl, Kiely M.4 aut |
700 | 1 | a Gallant, Caroline J.u Uppsala universitet,Molekylära verktyg4 aut0 (Swepub:uu)carga920 |
700 | 1 | a Alarcon-Riquelme, Marta E.4 aut |
700 | 1 | a Alarcon, Graciela S.4 aut |
700 | 1 | a Anaya, Juan-Manuel4 aut |
700 | 1 | a Bae, Sang-Cheol4 aut |
700 | 1 | a Boackle, Susan A.4 aut |
700 | 1 | a Brown, Elizabeth E.4 aut |
700 | 1 | a Chang, Deh-Ming4 aut |
700 | 1 | a Cho, Soo-Kyung4 aut |
700 | 1 | a Criswell, Lindsey A.4 aut |
700 | 1 | a Edberg, Jeffrey C.4 aut |
700 | 1 | a Freedman, Barry I.4 aut |
700 | 1 | a Gilkeson, Gary S.4 aut |
700 | 1 | a Jacob, Chaim O.4 aut |
700 | 1 | a James, Judith A.4 aut |
700 | 1 | a Kamen, Diane L.4 aut |
700 | 1 | a Kimberly, Robert P.4 aut |
700 | 1 | a Kim, Jae-Hoon4 aut |
700 | 1 | a Martin, Javier4 aut |
700 | 1 | a Merrill, Joan T.4 aut |
700 | 1 | a Niewold, Timothy B.4 aut |
700 | 1 | a Park, So-Yeon4 aut |
700 | 1 | a Petri, Michelle A.4 aut |
700 | 1 | a Pons-Estel, Bernardo A.4 aut |
700 | 1 | a Ramsey-Goldman, Rosalind4 aut |
700 | 1 | a Reveille, John D.4 aut |
700 | 1 | a Scofield, R. Hal4 aut |
700 | 1 | a Song, Yeong Wook4 aut |
700 | 1 | a Stevens, Anne M.4 aut |
700 | 1 | a Tsao, Betty P.4 aut |
700 | 1 | a Vila, Luis M.4 aut |
700 | 1 | a Vyse, Timothy J.4 aut |
700 | 1 | a Yu, Chack-Yung4 aut |
700 | 1 | a Guthridge, Joel M.4 aut |
700 | 1 | a Kaufman, Kenneth M.4 aut |
700 | 1 | a Harley, John B.4 aut |
700 | 1 | a Wakeland, Edward K.4 aut |
700 | 1 | a Langefeld, Carl D.4 aut |
700 | 1 | a Gaffney, Patrick M.4 aut |
700 | 1 | a Montgomery, Courtney G.4 aut |
700 | 1 | a Moser, Kathy L.4 aut |
710 | 2 | a Uppsala universitetb Molekylära verktyg4 org |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 90:4, s. 648-660q 90:4<648-660x 0002-9297x 1537-6605 |
856 | 4 | u http://www.cell.com/article/S0002929712001085/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-174377 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2012.02.023 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:124418557 |
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