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Sökning: WFRF:(d'Alfonso S) > (2010-2014) > Genetic association...

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FältnamnIndikatorerMetadata
00005207naa a2200601 4500
001oai:lup.lub.lu.se:84e11d93-4011-4636-ba63-ba43b57a05be
003SwePub
008160401s2012 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-166899
009oai:prod.swepub.kib.ki.se:124435513
0247 a https://lup.lub.lu.se/record/25710912 URI
0247 a https://doi.org/10.1038/gene.2011.842 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1668992 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1244355132 URI
040 a (SwePub)lud (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Löfgren, Sara Eu Uppsala universitet,Medicinsk genetik,Department of Pediatrics and Health Center,University of Szeged, H-6725, Szeged, Hungary4 aut0 (Swepub:uu)sarlo957
2451 0a Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene
264 c 2012-01-05
264 1b Springer Science and Business Media LLC,c 2012
520 a A recent genome-wide association study revealed a variant (rs2431697) in an intergenic region, between the pituitary tumor-transforming 1 (PTTG1) and microRNA (miR-146a) genes, associated with systemic lupus erythematosus (SLE) susceptibility. Here, we analyzed with a case-control design this variant and other candidate polymorphisms in this region together with expression analysis in order to clarify to which gene this association is related. The single-nucleotide polymorphisms (SNPs) rs2431697, rs2910164 and rs2277920 were genotyped by TaqMan assays in 1324 SLE patients and 1453 healthy controls of European ancestry. Genetic association was statistically analyzed using Unphased. Gene expression of PTTG1, the miRNAs miR-3142 and primary and mature forms of miR-146a in peripheral blood mononuclear cells (PBMCs) were assessed by quantitative real-time PCR. Of the three variants analyzed, only rs2431697 was genetically associated with SLE in Europeans. Gene expression analysis revealed that this SNP was not associated with PTTG1 expression levels, but with the microRNA-146a, where the risk allele correlates with lower expression of the miRNA. We replicated the genetic association of rs2341697 with SLE in a case-control study in Europeans and demonstrated that the risk allele of this SNP correlates with a downregulation of the miRNA 146a, potentially important in SLE etiology.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng
653 a autoimmunity
653 a inflammation
653 a microRNAs
653 a miR146a
653 a systemic lupus
653 a erythematosus
653 a Genetics
7001 a Frostegard, J.u Karolinska Institutet4 aut
7001 a Truedsson, Lennartu Lund University,Lunds universitet,Avdelningen för mikrobiologi, immunologi och glykobiologi - MIG,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Microbiology, Immunology and Glycobiology - MIG,Department of Laboratory Medicine,Faculty of Medicine,Department of Laboratory Medicine, section of M.I.G., Lund University4 aut0 (Swepub:lu)mmb-ltr
7001 a Pons-Estel, B. A.u Department of Rheumatology, Sanatorio Parque, Rosario, Argentina4 aut
7001 a D'Alfonso, S.u Department of Medical Sciences and IRCAD, University of Eastern Piedmont, 13100, Novara, Italy4 aut
7001 a Witte, T.u Hannover Medical School, 30625, Hannover, Germany4 aut
7001 a Lauwerys, B. R.u Cliniques Universitaires Saint-Luc, Université catholique de Louvain, B-1200, Bruxells, Belgium4 aut
7001 a Endreffy, E.u Andalucian Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, 18100, Armilla, Granada, Spain4 aut
7001 a Kovacs, L.u Department of Rheumatology, Albert Szent-Györgyi Clinical Centre, University of Szeged, H-6725, Szeged, Hungary4 aut
7001 a Vasconcelos, C.u Hospital Santo Antonio and ICBAS, 4099, Porto, Portugal4 aut
7001 a Martins da Silva, B.u UMIB/ICBAS, Immunogenetic, Largo Abel Salazar, 4050, Porto, Portugal4 aut
7001 a Kozyrev, Sergey Vu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)sekoz957
7001 a Alarcon-Riquelme, M. E.4 aut
7102 a Uppsala universitetb Medicinsk genetik4 org
7730 t Genes and Immunityd : Springer Science and Business Media LLCg 13:3, s. 268-274q 13:3<268-274x 1476-5470x 1466-4879
8564 u http://dx.doi.org/10.1038/gene.2011.84y FULLTEXT
8564 u https://www.nature.com/articles/gene201184.pdf
8564 8u https://lup.lub.lu.se/record/2571091
8564 8u https://doi.org/10.1038/gene.2011.84
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166899
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:124435513

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