Genetic and clinical basis for two distinct subtypes of primary Sjogren's syndrome.

ABSTRACT:

Objectives

Clinical presentation of primary Sjögren's syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach primary endpoints.

Methods

We performed a multicentre study to identify patient subgroups based on clinical, immunological and genetic features. Targeted DNA sequencing of 1853 autoimmune-related loci was performed. After quality control, 918 patients with pSS, 1264 controls and 107 045 single nucleotide variants remained for analysis. Replication was performed in 177 patients with pSS and 7672 controls.

Results

We found strong signals of association with pSS in the HLA region. Principal component analysis of clinical data distinguished two patient subgr

SUBMITTER: Thorlacius GE 

PROVIDER: S-EPMC7850528 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature