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Whole Exome Sequenc...
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants
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- Delgado-Vega, Angélica M. (författare)
- Uppsala universitet,Medicinsk genetik och genomik
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- Martinez-Bueno, M (författare)
- Univ Granada, Pfizer, Andalusian Govt Ctr Genom & Oncol Res GENYO, Granada, Spain
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- Oparina, Nina Y. (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Inst Environm Med, Solna, Sweden
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- Herraez, DL (författare)
- UFZ Helmholtz Ctr Environm Res, Dept Effect Directed Anal, Leipzig, Germany
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- Kristjansdottir, H (författare)
- Landspitalinn, Unit Rheumatol, Reykjavik, Iceland
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- Steinsson, K (författare)
- Landspitalinn, Unit Rheumatol, Reykjavik, Iceland
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- Kozyrev, Sergey V. (författare)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Alarcon-Riquelme, ME (författare)
- Karolinska Institutet,Univ Granada, Pfizer, Andalusian Govt Ctr Genom & Oncol Res GENYO, Granada, Spain;Karolinska Inst, Inst Environm Med, Solna, Sweden
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(creator_code:org_t)
- 2018-06-08
- 2018
- Engelska.
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1, s. 8775-
- Relaterad länk:
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https://www.nature.c...
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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http://kipublication...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
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- In an effort to identify rare alleles associated with SLE, we have performed whole exome sequencing of the most distantly related affected individuals from two large Icelandic multicase SLE families followed by Ta targeted genotyping of additional relatives. We identified multiple rare likely pathogenic variants in nineteen genes co-segregating with the disease through multiple generations. Gene co-expression and protein-protein interaction analysis identified a network of highly connected genes comprising several loci previously implicated in autoimmune diseases. These genes were significantly enriched for immune system development, lymphocyte activation, DNA repair, and V(D)J gene recombination GO-categories. Furthermore, we found evidence of aggregate association and enrichment of rare variants at the FAM71E1/EMC10 locus in an independent set of 4,254 European SLE-cases and 4,349 controls. Our study presents evidence supporting that multiple rare likely pathogenic variants, in newly identified genes involved in known disease pathogenic pathways, segregate with SLE at the familial and population level.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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