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Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants

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Authors
Delgado-Vega, Angélica M.
Martínez-Bueno, Manuel
Oparina, Nina Y.
López Herráez, David
Kristjansdottir, Helga
Steinsson, Kristján
Kozyrev, Sergey V.
Alarcón-Riquelme, Marta E.
Issue Date
2018-06-08

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Citation
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants 2018, 8 (1) Scientific Reports
Abstract
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.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files
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http://www.nature.com/articles/s41598-018-26274-y
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Archived with thanks to Scientific Reports
ae974a485f413a2113503eed53cd6c53
10.1038/s41598-018-26274-y
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English Journal Articles (Peer Reviewed)

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