@misc{10481/54819,
year = {2018},
url = {http://hdl.handle.net/10481/54819},
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.},
organization = {Supported in part by the Proyecto de Excelencia
de la Junta de Andalucía (http://www.juntadeandalucia.es/, CTS-2548, MEAR), the Fundación Ramón Areces
(http://www.fundacionareces.es/, MEAR), the King Gustaf Vth −80th Jubilee Fund (http://www.kungahuset.se/
monarkinhovstaterna/kungligastiftelser/forskning/konunggustafvs80arsfond/, FAI-2015-0098, SVK and MEAR),
Clas Groschinskys Minnesfond (http://www.groschinsky.org/, M9 25, SVK), Olle Engkvist Byggmästare Fund
(http://engkviststiftelserna.se/, SOEB 210/226, SVK), Marcus Borgströms Foundation (SVK) and the Swedish
Rheumatism association (https://www.reumatikerforbundet.org/, R-548551, R-145981, R-230461, R-309971,
SVK and MEAR). The funders had no role in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.},
publisher = {Springer Nature Publishing AG},
title = {Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants},
author = {Delgado-Vega, Angélica M. and Martínez Bueno, Manuel and Oparina, Nina Y. and López Herráez, David and Kristjansdottir, Helga and Steinsson, Kristján and Kozyrev, Sergey V. and Alarcón Riquelme, Marta Eugenia},
}