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Genetic association...
Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene
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- Löfgren, Sara E (author)
- Uppsala universitet,Medicinsk genetik,Department of Pediatrics and Health Center,University of Szeged, H-6725, Szeged, Hungary
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- Frostegard, J. (author)
- Karolinska Institutet
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- Truedsson, Lennart (author)
- 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 University
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- Pons-Estel, B. A. (author)
- Department of Rheumatology, Sanatorio Parque, Rosario, Argentina
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- D'Alfonso, S. (author)
- Department of Medical Sciences and IRCAD, University of Eastern Piedmont, 13100, Novara, Italy
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- Witte, T. (author)
- Hannover Medical School, 30625, Hannover, Germany
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- Lauwerys, B. R. (author)
- Cliniques Universitaires Saint-Luc, Université catholique de Louvain, B-1200, Bruxells, Belgium
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- Endreffy, E. (author)
- Andalucian Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, 18100, Armilla, Granada, Spain
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- Kovacs, L. (author)
- Department of Rheumatology, Albert Szent-Györgyi Clinical Centre, University of Szeged, H-6725, Szeged, Hungary
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- Vasconcelos, C. (author)
- Hospital Santo Antonio and ICBAS, 4099, Porto, Portugal
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- Martins da Silva, B. (author)
- UMIB/ICBAS, Immunogenetic, Largo Abel Salazar, 4050, Porto, Portugal
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- Kozyrev, Sergey V (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
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Alarcon-Riquelme, M. E. (author)
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(creator_code:org_t)
- 2012-01-05
- 2012
- English.
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In: Genes and Immunity. - : Springer Science and Business Media LLC. - 1476-5470 .- 1466-4879. ; 13:3, s. 268-274
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Keyword
- autoimmunity
- inflammation
- microRNAs
- miR146a
- systemic lupus
- erythematosus
- Genetics
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Löfgren, Sara E
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Frostegard, J.
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Truedsson, Lenna ...
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Pons-Estel, B. A ...
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D'Alfonso, S.
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Witte, T.
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Lauwerys, B. R.
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Endreffy, E.
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Kovacs, L.
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Vasconcelos, C.
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Martins da Silva ...
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Kozyrev, Sergey ...
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Alarcon-Riquelme ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
- Articles in the publication
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Genes and Immuni ...
- By the university
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Lund University
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Uppsala University
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Karolinska Institutet