Evidence map›Paper›PMID 41200769›Full record

ArticleJournal of internal medicine2026

Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large-scale analysis of genetic predisposition and disease subtypes.

Sarah Reid, Johanna K Sandling, Pascal Pucholt, Ahmed Sayadi, Martina Frodlund, Karoline Lerang, Iva Gunnarsson, Andreas Jönsen, Ann-Christine Syvänen, Øyvind Molberg and 7 more

Abstract read
In one paragraph

Article in Journal of internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Sarah ReidRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Johanna K SandlingRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0003-1382-2321
Pascal PucholtRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Ahmed SayadiRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Martina FrodlundDepartment of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden.
Karoline LerangDepartment of Rheumatology, Oslo University Hospital, Oslo, Norway.
Iva GunnarssonRheumatology Unit, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Andreas JönsenRheumatology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Ann-Christine SyvänenRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Øyvind MolbergDepartment of Rheumatology, Oslo University Hospital, Oslo, Norway.
Solbritt Rantapää-DahlqvistDepartment of Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden.ORCID https://orcid.org/0000-0001-8259-3863
Anna RudinDepartment of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy of University of Gothenburg, Gothenburg, Sweden.ORCID https://orcid.org/0000-0002-4137-1276
Christopher SjöwallDepartment of Biomedical and Clinical Sciences, Division of Inflammation and Infection/Rheumatology, Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0003-0900-2048
Elisabet SvenungssonRheumatology Unit, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-3396-3244
Anders A BengtssonRheumatology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Lars RönnblomRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0001-9403-6503
Dag LeonardRheumatology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-6275-7282

Funding

the Swedish Society for Medical Research S20-0127
6 · The paper itself

Abstract

backgroundSystemic lupus erythematosus (SLE) is an autoimmune disease with a heterogenous clinical picture. This study aimed to link genetic SLE predisposition with relevant clinical manifestations.

methodDatasets best corresponding to the 11 American College of Rheumatology 1982 (ACR-82) classification criteria for SLE in a large, public database (FinnGen consortium, >218,000 individuals) were identified. Mendelian randomization analysis was conducted to evaluate the effect of a high genetic SLE predisposition on each manifestation. Next, validation was conducted in a clinical SLE cohort comprising 1487 genotyped Scandinavian patients with detailed clinical data. Based on the public datasets, genetic risk scores (GRSs) for each relevant manifestation were constructed for each patient. Associations between each GRS and the corresponding ACR-82 criterion were evaluated using logistic regression.

resultsIn the FinnGen biobank, the cumulative effect of the 57 SLE risk SNPs was associated with an increased risk of rosacea, OR 1.09 (1.03-1.16), polyarthropathies, OR 1.10 (1.06-1.14), pleural effusions, OR 1.09 (1.04-1.14), and hemolytic anemia, OR 1.32 (1.10-1.58). In the clinical cohort, 5 of the 11 GRSs generated from the public datasets were associated with their corresponding ACR-82 criterion: arthritis, OR 1.15 (1.02-1.31), renal disorder, OR 1.15 (1.04-1.29), neurologic disorder, OR 1.24 (1.04-1.47), hematologic disorder, OR 1.12 (1.00-1.24), and immunologic disorder, OR 1.37 (1.22-1.56).

conclusionThe findings demonstrate that known SLE risk gene variants play a role in the development of at least half of the ACR-82 criteria for SLE, indicating a future possibility of using genetics to predict a variety of disease sub-phenotypes in SLE.

Indexed as

Genetic Predisposition to DiseaseLupus Erythematosus, SystemicAdultFemaleHumansMaleMendelian Randomization AnalysisMiddle AgedPolymorphism, Single NucleotideRisk Factorsautoimmunitydisease subtypesFinnGen consortiumgenetic risk scoreMendelian randomizationsystemic lupus erythematosus

Identifiers

PMID41200769
PMCPMC12678220

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.