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Sökning: WFRF:(Milani Lili) > An insertion-deleti...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003396naa a2200457 4500
001oai:DiVA.org:uu-12816
003SwePub
008080116s2007 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128162 URI
0247 a https://doi.org/10.1093/hmg/ddm2592 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Dideberg, Vincianeu Uppsala universitet,Molekylär medicin4 aut
2451 0a An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases
264 c 2007-09-12
264 1b Oxford University Press (OUP),c 2007
338 a print2 rdacarrier
520 a The interferon regulatory factor 5 (IRF5) gene encodes a transcriptionfactor that plays an important role in the innate as well asin the cell-mediated immune responses. The IRF5 gene has beenshown to be associated with systemic lupus erythematosus andrheumatoid arthritis. We studied whether the IRF5 gene is alsoassociated with inflammatory bowel diseases (IBD), Crohn disease(CD) and ulcerative colitis (UC). Twelve polymorphisms in theIRF5 gene were genotyped in a cohort of 1007 IBD patients (748CD and 241 UC) and 241 controls from Wallonia, Belgium. Thesame polymorphisms were genotyped in a confirmatory cohort of311 controls and 687 IBD patients (488 CD and 192 UC) from Leuven,Belgium. A strong signal of association (p = 1.9 x 10–5,OR: 1.81 (1.37-2.39)) with IBD was observed for a 5bp indel(CGGGG) polymorphism in the promoter region of the IRF5 gene.The association was detectable (p = 6.8 x 10–4) also inCD patients, and was particularly strong among the UC patients(p = 5.3 x 10–8, OR 2.42 (1.76 -3.34)). The associationof the CGGGG indel was confirmed in the second cohort (p = 3.2x 10–5, OR 1.59 (1.28 - 1.98)). The insertion of one CGGGGunit is predicted to create an additional binding site for thetranscription factor SP1. Using an electrophoretic mobilityshift assay we show allele-specific differences in protein bindingto this repetitive DNA-stretch, which suggest a potential functionrole for the CGGGG indel.
653 a MEDICINE
653 a MEDICIN
7001 a Kristjansdottir, Gudlaugu Uppsala universitet,Molekylär medicin4 aut
7001 a Milani, Liliu Uppsala universitet,Molekylär medicin4 aut0 (Swepub:uu)livoj956
7001 a Libioulle, C.4 aut
7001 a Sigurdsson, Snaevaru Uppsala universitet,Molekylär medicin4 aut
7001 a Louis, E.4 aut
7001 a Wiman, Ann-Christinu Uppsala universitet,Molekylär medicin4 aut
7001 a Vermeire, S.4 aut
7001 a Rutgeerts, P.4 aut
7001 a Belaiche, J.4 aut
7001 a Franchimont, D.4 aut
7001 a Van Gossum, A.4 aut
7001 a Bours, V.4 aut
7001 a Syvänen, Ann-Christineu Uppsala universitet,Molekylär medicin4 aut0 (Swepub:uu)anncsyva
7102 a Uppsala universitetb Molekylär medicin4 org
7730 t Human Molecular Geneticsd : Oxford University Press (OUP)g 16:24, s. 3008-3016q 16:24<3008-3016x 0964-6906x 1460-2083
8564 u https://academic.oup.com/hmg/article-pdf/16/24/3008/17243966/ddm259.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-12816
8564 8u https://doi.org/10.1093/hmg/ddm259

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