Sökning: onr:"swepub:oai:DiVA.org:uu-149082" > Identification of a...
Fältnamn | Indikatorer | Metadata |
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000 | 04622naa a2200853 4500 | |
001 | oai:DiVA.org:uu-149082 | |
003 | SwePub | |
008 | 110315s2011 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:121978756 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1490822 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2010.11.0142 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1219787562 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 a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study |
264 | 1 | b Elsevier BV,c 2011 |
338 | a print2 rdacarrier | |
520 | a Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not yet exceeding genome-wide significance (p < 5 x 10(-8)) identified in a genome-wide association study (GWAS). Our GWA scan identified two intergenic SNPs located between PDHX and CD44 showing suggestive evidence of association with SLE in cases of European descent (rs2732552, p = 0.004, odds ratio [OR] = 0.78; rs387619, p = 0.003, OR = 0.78). The replication cohort consisted of >15,000 subjects, including 3562 SLE cases and 3491 controls of European ancestry, 1527 cases and 1811 controls of African American (AA) descent, and 1265 cases and 1260 controls of Asian origin. We observed robust association at both rs2732552 (p = 9.03 x 10(-8), OR = 0.83) and rs387619 (p = 7.7 x 10(-7), OR = 0.83) in the European samples with p(meta) = 1.82 x 10(-9) for rs2732552. The AA and Asian SLE cases also demonstrated association at rs2732552 (p = 5 x 10(-3), OR = 0.81 and p = 4.3 x 10(-4), OR = 0.80, respectively). A meta-analysis of rs2732552 for all racial and ethnic groups studied produced p(meta) = 2.36 x 10(-13). This locus contains multiple regulatory sites that could potentially affect expression and functions of CD44, a cell-surface glycoprotein influencing immunologic, inflammatory, and oncologic phenotypes, or PDHX, a subunit of the pyruvate dehydrogenase complex. | |
653 | a MEDICINE | |
653 | a MEDICIN | |
700 | 1 | a Adrianto, Indra4 aut |
700 | 1 | a Kelly, Jennifer A.4 aut |
700 | 1 | a Kaufman, Kenneth M.4 aut |
700 | 1 | a Grundahl, Kiely M.4 aut |
700 | 1 | a Adler, Adam4 aut |
700 | 1 | a Williams, Adrienne H.4 aut |
700 | 1 | a Gallant, Caroline J.u Uppsala universitet,Genomik,Forskargrupp Alarcon4 aut |
700 | 1 | a Alarcon-Riquelme, Marta E.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 Criswell, Lindsey A.4 aut |
700 | 1 | a Edberg, Jeffrey C.4 aut |
700 | 1 | a Freedman, Barry I.4 aut |
700 | 1 | a Gregersen, Peter K.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 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 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 Bruner, Gail R.4 aut |
700 | 1 | a Langefeld, Carl D.4 aut |
700 | 1 | a Montgomery, Courtney4 aut |
700 | 1 | a Harley, John B.4 aut |
700 | 1 | a Scofield, R. Hal4 aut |
700 | 1 | a Gaffney, Patrick M.4 aut |
700 | 1 | a Moser, Kathy L.4 aut |
710 | 2 | a Uppsala universitetb Genomik4 org |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 88:1, s. 83-91q 88:1<83-91x 0002-9297x 1537-6605 |
856 | 4 | u http://www.cell.com/article/S0002929710006014/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-149082 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2010.11.014 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:121978756 |
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