{"entity": "publication", "iuid": "b619642dacb342078ca7175000185e33", "timestamp": "2026-09-23T15:28:18.610Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b619642dacb342078ca7175000185e33.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b619642dacb342078ca7175000185e33"}}, "title": "High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.", "authors": [{"family": "Reid", "given": "Sarah", "initials": "S", "orcid": "0000-0003-4065-6875", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dbb022bf9c044578923d23851f969208.json"}}, {"family": "Alexsson", "given": "Andrei", "initials": "A"}, {"family": "Frodlund", "given": "Martina", "initials": "M"}, {"family": "Morris", "given": "David", "initials": "D"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Bolin", "given": "Karin", "initials": "K"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2c44ebd4f33e46a1862877bce94be05b.json"}}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Bengtsson", "given": "Christine", "initials": "C"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Illescas Rodriguez", "given": "Vera", "initials": "V"}, {"family": "Bengtsson", "given": "Anders", "initials": "A"}, {"family": "Arve", "given": "Sabine", "initials": "S", "orcid": "0000-0002-3347-5550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d063b42c4af42efbba4afb26b9a9fd3.json"}}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c8c4d669b3942309a148980c1437b5d.json"}}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9fcc24622ec440bac6996072cceea0e.json"}}, {"family": "Vyse", "given": "Timothy James", "initials": "TJ"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7ec7a7befd44cc988091ba0858d3c0.json"}}, {"family": "Leonard", "given": "Dag", "initials": "D", "orcid": "0000-0002-6275-7282", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/444ae7021f634df8b55e61c85c81b28b.json"}}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "Ann. Rheum. Dis.", "issn": "1468-2060", "volume": "79", "issue": "3", "pages": "363-369", "issn-l": "0003-4967"}, "abstract": "To investigate associations between a high genetic disease risk and disease severity in patients with systemic lupus erythematosus (SLE).\n\nPatients with SLE (n=1001, discovery cohort and n=5524, replication cohort) and healthy controls (n=2802 and n=9859) were genotyped using a 200K Immunochip single nucleotide polymorphism array. A genetic risk score (GRS) was assigned to each individual based on 57 SLE risk loci.\n\nSLE was more prevalent in the high, compared with the low, GRS-quartile (OR 12.32 (9.53 to 15.71), p=7.9\u00d710-86 and OR 7.48 (6.73 to 8.32), p=2.2\u00d710-304 for the discovery and the replication cohorts, respectively). In the discovery cohort, patients in the high GRS-quartile had a 6-year earlier mean disease onset (HR 1.47 (1.22 to 1.75), p=4.3\u00d710-5), displayed higher prevalence of damage accrual (OR 1.47 (1.06 to 2.04), p=2.0\u00d710-2), renal disorder (OR 2.22 (1.50 to 3.27), p=5.9\u00d710-5), anti-dsDNA (OR 1.83 (1.19 to 2.81), p=6.1\u00d710-3), end-stage renal disease (ESRD) (OR 5.58 (1.50 to 20.79), p=1.0\u00d710-2), proliferative nephritis (OR 2.42 (1.30 to 4.49), p=5.1\u00d710-3), anti-cardiolipin-IgG (OR 1.89 (1.13 to 3.18), p=1.6\u00d710-2), anti-\u03b22-glycoprotein-I-IgG (OR 2.29 (1.29 to 4.06), p=4.8\u00d710-3) and positive lupus anticoagulant test (OR 2.12 (1.16 to 3.89), p=1.5\u00d710-2) compared with patients in the low GRS-quartile. Survival analysis showed earlier onset of the first organ damage (HR 1.51 (1.04 to 2.25), p=3.7\u00d710-2), first cardiovascular event (HR 1.65 (1.03 to 2.64), p=2.6\u00d710-2), nephritis (HR 2.53 (1.72 to 3.71), p=9.6\u00d710-7), ESRD (HR 6.78 (1.78 to 26.86), p=6.5\u00d710-3) and decreased overall survival (HR 1.83 (1.02 to 3.30), p=4.3\u00d710-2) in high to low quartile comparison.\n\nA high GRS is associated with increased risk of organ damage, renal dysfunction and all-cause mortality. Our results indicate that genetic profiling may be useful for predicting outcomes in patients with SLE.", "doi": "10.1136/annrheumdis-2019-216227", "pmid": "31826855", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7034364"}, {"db": "pii", "key": "S0003-4967(24)01473-0"}], "notes": [], "created": "2026-09-23T07:28:57.423Z", "modified": "2026-09-23T07:28:57.509Z"}