Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Lessard, Christo ...; Adrianto, Indra; Ice, John A.; Wiley, Graham B.; Kelly, Jennifer ...; Glenn, Stuart B.; visa fler...; Adler, Adam J.; Li, He; Rasmussen, Astri ...; Williams, Adrien ...; Ziegler, Julie; Comeau, Mary E.; Marion, Miranda; Wakeland, Benjam ...; Liang, Chaoying; Ramos, Paula S.; Grundahl, Kiely ...; Gallant, Carolin ...; Alarcon-Riquelme ...; Alarcon, Graciel ...; Anaya, Juan-Manu ...; Bae, Sang-Cheol; Boackle, Susan A ...; Brown, Elizabeth ...; Chang, Deh-Ming; Cho, Soo-Kyung; Criswell, Lindse ...; Edberg, Jeffrey ...; Freedman, Barry ...; Gilkeson, Gary S ...; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kimberly, Robert ...; Kim, Jae-Hoon; Martin, Javier; Merrill, Joan T.; Niewold, Timothy ...; Park, So-Yeon; Petri, Michelle ...; Pons-Estel, Bern ...; Ramsey-Goldman, ...; Reveille, John D ...; Scofield, R. Hal; Song, Yeong Wook; Stevens, Anne M.; Tsao, Betty P.; Vila, Luis M.; Vyse, Timothy J.; Yu, Chack-Yung; Guthridge, Joel ...; Kaufman, Kenneth ...; Harley, John B.; Wakeland, Edward ...; Langefeld, Carl ...; Gaffney, Patrick ...; Montgomery, Cour ...; Moser, Kathy L.; visa färre...

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