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WFRF:(Jimenez Enrique)
 

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003405naa a2200457 4500
001oai:DiVA.org:uu-122916
003SwePub
008100421s2009 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1229162 URI
0247 a https://doi.org/10.1093/hmg/ddp3012 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Sánchez, Elena4 aut
2451 0a Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus
264 c 2009-07-07
264 1b Oxford University Press (OUP),c 2009
338 a print2 rdacarrier
520 a Interleukin-18 (IL-18) is a proinflammatory cytokine that plays an important role in chronic inflammation and autoimmune disorders. In this study, we aimed to determine the potential role of the IL18 gene in SLE. To define the genetic association of the IL18 and SLE, we have genotyped nine SNPs in an independent set of Spanish cases and controls. The IL18 polymorphisms were genotyped by PCR, using a predeveloped TaqMan allele discrimination assay. Two SNPs were still significant after fine mapping of the IL18 gene. The SNP (rs360719) surviving correction for multiple tests was genotyped in two replication cohorts from Italy and Argentina. After the analysis, a significance with rs360719 C-allele remained across the sets and after the meta-analysis (Pooled OR = 1.37, 95% CI 1.21-1.54, combined P = 3.8E-07, Pc = 1.16E-06). Quantitative real-time PCR was performed to assess IL18 mRNA expression in PBMC from subjects with different IL18 rs360719 genotypes. We tested the effect of the IL18 rs360719 polymorphism on the transcription of IL18 by electrophoretic mobility shift assay and western blot. We found a significant increase in the relative expression of IL18 mRNA in individuals carrying the rs360719 C-risk allele; in addition we show that the polymorphism creates a binding site for the transcriptional factor OCT-1. These findings suggest that the novel IL18 rs360719 variant may play an important role in determining the susceptibility to SLE and it could be a key factor in the expression of the IL18 gene.
653 a MEDICINE
653 a MEDICIN
7001 a Palomino-Morales, Rogelio J.4 aut
7001 a Ortego-Centeno, Norberto4 aut
7001 a Jiménez-Alonso, Juan4 aut
7001 a González-Gay, Miguel A.4 aut
7001 a López-Nevot, Miguel A.4 aut
7001 a Sánchez-Román, Julio4 aut
7001 a de Ramón, Enrique4 aut
7001 a González-Escribano, M. Francisca4 aut
7001 a Pons-Estel, Bernardo A.4 aut
7001 a D'Alfonso, Sandra4 aut
7001 a Sebastiani, Gian Domenico4 aut
7001 a Alarcón-Riquelme, Marta E.u Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)martaala
7001 a Martín, Javier4 aut
7102 a Uppsala universitetb Institutionen för genetik och patologi4 org
7730 t Human Molecular Geneticsd : Oxford University Press (OUP)g 18:19, s. 3739-3748q 18:19<3739-3748x 0964-6906x 1460-2083
8564 u https://academic.oup.com/hmg/article-pdf/18/19/3739/17247188/ddp301.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-122916
8564 8u https://doi.org/10.1093/hmg/ddp301

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