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Contributions of de...
Contributions of de novo variants to systemic lupus erythematosus
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- Carlsson Almlöf, Jonas (author)
- Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Nystedt, Sara (author)
- Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Mechtidou, Aikaterini (author)
- Uppsala University,Uppsala Univ, Sweden
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- Leonard, Dag, 1975- (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Eloranta, Maija-Leena (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Grosso, Giorgia (author)
- Karolinska Institutet
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- Sjöwall, Christopher (author)
- Linköpings universitet,Linköping University,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland
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- Bengtsson, Anders A. (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Lund Univ, 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,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Lund Univ, Sweden
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- Gunnarsson, Iva (author)
- Karolinska Institutet
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- Svenungsson, Elisabet (author)
- Karolinska Institutet
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- Rönnblom, Lars (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Sandling, Johanna K. (author)
- Uppsala University,Uppsala universitet,Reumatologi,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Syvänen, Ann-Christine, 1950- (author)
- Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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(creator_code:org_t)
- 2020-07-28
- 2021
- English.
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In: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438. ; 29:1, s. 184-193
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https://urn.kb.se/re...
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Abstract
Subject headings
Close
- By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic lupus erythematosus (SLE, OMIM 152700), we investigated the contribution of de novo variants to risk of SLE. We found de novo single nucleotide variants (SNVs) to be significantly enriched in gene promoters in SLE patients compared with healthy controls at a level corresponding to 26 de novo promoter SNVs more in each patient than expected. We identified 12 de novo SNVs in promoter regions of genes that have been previously implicated in SLE, or that have functions that could be of relevance to SLE. Furthermore, we detected three missense de novo SNVs, five de novo insertion-deletions, and three de novo structural variants with potential to affect the expression of genes that are relevant for SLE. Based on enrichment analysis, disease-affecting de novo SNVs are expected to occur in one-third of SLE patients. This study shows that de novo variants in promoters commonly contribute to the genetic risk of SLE. The fact that de novo SNVs in SLE were enriched to promoter regions highlights the importance of using whole-genome sequencing for identification of de novo variants.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Medical Science
- Medicinsk vetenskap
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Carlsson Almlöf, ...
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Nystedt, Sara
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Mechtidou, Aikat ...
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Leonard, Dag, 19 ...
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Eloranta, Maija- ...
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Grosso, Giorgia
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Sjöwall, Christo ...
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Bengtsson, Ander ...
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Jönsen, Andreas
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Gunnarsson, Iva
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Svenungsson, Eli ...
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Rönnblom, Lars
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Sandling, Johann ...
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Syvänen, Ann-Chr ...
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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 Clinical Medicin ...
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and Rheumatology and ...
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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
- Articles in the publication
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European Journal ...
- By the university
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Uppsala University
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Lund University
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Linköping University
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Karolinska Institutet