Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity

Panousis, Nikolaos; Bertsias, George K; Ongen, Halit; Gergianaki, Irini; Tektonidou, Maria G; Trachana, Maria; Romano, Luciana; Bielser, Deborah; Howald, Cédric; Pamfil, Cristina; Fanouriakis, Antonis; Kosmara, Despoina; Repa, Argyro; Sidiropoulos, Prodromos; Dermitzakis, Emmanouil; Boumpas, Dimitrios T

doi:10.1136/annrheumdis-2018-214379

Scientific article

English

Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity

ContributorsPanousis, Nikolaos; Bertsias, George K; Ongen, Halit; Gergianaki, Irini; Tektonidou, Maria G; Trachana, Maria; Romano, Luciana; Bielser, Deborah; Howald, Cédric; Pamfil, Cristina; Fanouriakis, Antonis; Kosmara, Despoina; Repa, Argyro; Sidiropoulos, Prodromos; Dermitzakis, Emmanouil; Boumpas, Dimitrios T

Published inAnnals of the Rheumatic Diseases, vol. 78, no. 8, p. 1079-1089

Publication date2019

Abstract

Systemic lupus erythematosus (SLE) diagnosis and treatment remain empirical and the molecular basis for its heterogeneity elusive. We explored the genomic basis for disease susceptibility and severity.

Keywords

Adult
Case-Control Studies
Disease Progression
Female
Gene Expression Profiling/methods
Genetic Predisposition to Disease/epidemiology
Genetic Variation
Genome-Wide Association Study
Genotype
Humans
Interferon Type I/genetics
Lupus Erythematosus
Systemic/genetics/immunology
Male
Middle Aged
Phenotype
RNA
Messenger/genetics
Reference Values
Transcriptome/genetics
Young Adult

Affiliation entities

Research groups

Population Genomics and Genetics of Complex Traits (892)

Funding

Swiss National Science Foundation - Elucidating the effects of germ-line and somatic regulatory DNA sequence variants in health and disease [170096]
European Commission - PRECISION CARE IN SYSTEMIC AUTOIMMUNITY: AN INTEGRATED MULTI-TISSUE/LEVEL APPROACH FOR SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) [742390]
European Commission - A Systems medicine approach to chronic inflammatory disease [733100]

Citation (ISO format)

PANOUSIS, Nikolaos et al. Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity. In: Annals of the Rheumatic Diseases, 2019, vol. 78, n° 8, p. 1079–1089. doi: 10.1136/annrheumdis-2018-214379