Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Lessard, Christo ...; Adrianto, Indra; Kelly, Jennifer ...; Kaufman, Kenneth ...; Grundahl, Kiely ...; Adler, Adam; visa fler...; Williams, Adrien ...; Gallant, Carolin ...; Alarcon-Riquelme ...; Anaya, Juan-Manu ...; Bae, Sang-Cheol; Boackle, Susan A ...; Brown, Elizabeth ...; Chang, Deh-Ming; Criswell, Lindse ...; Edberg, Jeffrey ...; Freedman, Barry ...; Gregersen, Peter ...; Gilkeson, Gary S ...; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kimberly, Robert ...; Martin, Javier; Merrill, Joan T.; Niewold, Timothy ...; Park, So-Yeon; Petri, Michelle ...; Pons-Estel, Bern ...; Ramsey-Goldman, ...; Reveille, John D ...; Song, Yeong Wook; Stevens, Anne M.; Tsao, Betty P.; Vila, Luis M.; Vyse, Timothy J.; Yu, Chack-Yung; Guthridge, Joel ...; Bruner, Gail R.; Langefeld, Carl ...; Montgomery, Cour ...; Harley, John B.; Scofield, R. Hal; Gaffney, Patrick ...; Moser, Kathy L.; visa färre...

Artiklar i publikationen: American Journal ...

Av lärosätet: Uppsala universitet; Karolinska Institutet

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