A phenotypic and genomics approach in a multi-ethnic cohort to subtype systemic lupus erythematosus.

ABSTRACT: Systemic lupus erythematous (SLE) is a heterogeneous autoimmune disease in which outcomes vary among different racial groups. Here, we aim to identify SLE subgroups within a multiethnic cohort using an unsupervised clustering approach based on the American College of Rheumatology (ACR) classification criteria. We identify three patient clusters that vary according to disease severity. Methylation association analysis identifies a set of 256 differentially methylated CpGs across clusters, including 101 CpGs in genes in the Type I Interferon pathway, and we validate these associations in an external cohort. A cis-methylation quantitative trait loci analysis identifies 744 significant CpG-SNP pairs. The methylation signature is enriched for ethnic-associated CpGs suggesting that genetic and n

SUBMITTER: Lanata CM 

PROVIDER: S-EPMC6715644 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature