Article
A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren's disease.
Rheumatology (Oxford, England) - 1 Jul 2025
Fugmann Cecilia, Reid Sarah, Pucholt Pascal, Kvarnström Marika, Björk Albin, Mofors Johannes, Sjöwall Christopher, Eriksson Per, Olsson Peter, Mandl Thomas, Forsblad-d'Elia Helena, Magnusson Bucher Sara, Johnsen Svein Joar, Norheim Katrine Brække, Appel Silke, Hammenfors Daniel, Jensen Janicke Liaaen, Palm Øyvind, Omdal Roald, Jonsson Roland, Baecklund Eva, Wahren-Herlenius Marie, Leonard Dag, Imgenberg-Kreuz Juliana, Nordmark Gunnel
Abstract excerpt
OBJECTIVES: To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sjögren's disease (SjD) with genome-wide significance and determine the genetic risk for SjD stratified by antibodies, sex and age at diagnosis. METHODS: Patients with SjD (n = 1065) were genotyped using Illumina OmniExpressExome chip. Control genotype data were available (n = 7742)....
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