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Contribution of IKB...
Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
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- Wang, Chuan (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Molmed,Uppsala University, Sweden
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- Ahlford, Annika (author)
- Uppsala universitet,Molekylär medicin,Uppsala University, Sweden,Lund University, Sweden
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- Laxman, Navya (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden
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- Nordmark, Gunnel (author)
- Uppsala universitet,Reumatologi,Uppsala University, Sweden
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- Eloranta, Maija-Leena (author)
- Uppsala universitet,Reumatologi,Uppsala University, Sweden
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- Gunnarsson, Iva (author)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Svenungsson, Elisabet (author)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Padyukov, Leonid (author)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Sturfelt, Gunnar (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University, Sweden
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- Jönsen, Andreas (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Bengtsson, Anders (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
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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,Lund University, Sweden
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- Rantapää-Dahlqvist, Solbritt (author)
- Umeå universitet,Reumatologi,Umeå University, Sweden
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- Sjöwall, Christoffer (author)
- Östergötlands Läns Landsting,Linköpings universitet,Reumatologi,Hälsouniversitetet,Reumatologiska kliniken i Östergötland
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- Sandling, Johanna K (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden Wellcome Trust Sanger Institute, England
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- Rönnblom, Lars (author)
- Uppsala universitet,Reumatologi,Uppsala University, Sweden
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Molmed
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(creator_code:org_t)
- 2013-03-28
- 2013
- English.
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In: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 14:4, s. 217-222
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- The type I interferon system genes IKBKE and IFIH1 are associated with the risk of systemic lupus erythematosus (SLE). To identify the sequence variants that are able to account for the disease association, we resequenced the genes IKBKE and IFIH1. Eighty-six single-nucleotide variants (SNVs) with potentially functional effect or differences in allele frequencies between patients and controls determined by sequencing were further genotyped in 1140 SLE patients and 2060 controls. In addition, 108 imputed sequence variants in IKBKE and IFIH1 were included in the association analysis. Ten IKBKE SNVs and three IFIH1 SNVs were associated with SLE. The SNVs rs1539241 and rs12142086 tagged two independent association signals in IKBKE, and the haplotype carrying their risk alleles showed an odds ratio of 1.68 (P-value=1.0 × 10−5). The risk allele of rs12142086 affects the binding of splicing factor 1 in vitro and could thus influence its transcriptional regulatory function. Two independent association signals were also detected in IFIH1, which were tagged by a low-frequency SNV rs78456138 and a missense SNV rs3747517. Their joint effect is protective against SLE (odds ratio=0.56; P-value=6.6 × 10−3). In conclusion, we have identified new SLE-associated sequence variants in IKBKE and IFIH1, and proposed functional hypotheses for the association signals.
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)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Keyword
- IKBKE
- IFIH1
- resequencing
- association study
- systemic lupus erythematosus
- IKBKE
- IFIH1
- resequencing
- association study
- systemic lupus
- erythematosus
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wang, Chuan
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Ahlford, Annika
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Laxman, Navya
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Nordmark, Gunnel
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Eloranta, Maija- ...
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Gunnarsson, Iva
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Svenungsson, Eli ...
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Padyukov, Leonid
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Sturfelt, Gunnar
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Jönsen, Andreas
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Bengtsson, Ander ...
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Truedsson, Lenna ...
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Rantapää-Dahlqvi ...
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Sjöwall, Christo ...
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Sandling, Johann ...
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Rönnblom, Lars
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Syvänen, Ann-Chr ...
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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 Medical Genetics
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MEDICAL AND HEAL ...
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Genes and Immuni ...
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Uppsala University
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Lund University
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Karolinska Institutet
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Umeå University
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Linköping University