OPHTHALMIC INVOLVEMENT IN SYSTEMIC LUPUS ERYTHEMATOSUS IS ASSOCIATED WITH INTERFERON-ALPHA GENE SIGNATURE: A CROSS-SECTIONAL STUDY
Bibliographic record
Abstract
PV102 / #625 Poster Topic: AS12 - Genetics, Epigenetics, Transcriptomics Background/Purpose Interferon Pathways studies have highlighted the role of type I interferons, especially interferon-alpha (IFN-α), in driving inflammatory pathways in lupus. Elevated levels of IFN-α are often associated with disease activity. However, few studies have been performed to clarify the role of IFN-α in ocular involvement, including dry eye and retinal changes in Systemic Erythematosus Lupus (SLE). We aimed to assess the association between IFN-α genes signature and ophthalmological involvement in SLE patients. Methods We evaluated patients aged 18 years or older at the Rheumatology unit of Professor Alberto Antunes University Hospital – Federal University of Alagoas, Brazil, who fulfilled 2019 EULAR/ACR criteria for SLE and attended medical routine consultation. A retinal specialist performed Clinical Ophthalmologic evaluation. In this analysis, we excluded eye problems related to treatment, such as cataracts or Hydroxychloroquine retinopathy. We utilized SLEDAI-2K to measure disease activity and blood samples were obtained from patients on the same day of clinical evaluation. Isolation of mononuclear cells (PBMC) and RNA extraction were performed, followed by cDNA synthesis. The expression of the IFI27, IFI44L, IFIT1, ISG15, RSAD2, and SIGLEC1 genes was performed via real-time PCR, using the reference genes RPLP0 and EEF1A1 for normalization. The median of the normalized relative quantity (NRQ) of the genes of each patient was used to calculate the fold change (FC) of the “Interferon Score.” Statistical analysis was performed with GraphPad Prism® 8.0, using the Mann-Whitney test for group comparisons and the Spearman test for correlation analysis. Results The group sample consisted of 38 SLE patients. We identified SLE eye involvement in 57.89% (22/38). Of these, 36.6% (8/22) had lupus retinopathy, 68% (14/22) dry eye, and 18% (4/22) Lupus choroidopathy. 65% of the patients had active disease measured by SLEDAI-2K. We verified higher expression levels of IFN-a gene signature in SLE patients with eye involvement (FC= 2,52 ±1,96; p=0,0027). Conclusions Upregulation of Interferon-alpha genes was observed in SLE patients with ocular involvement, supporting the hypothesis that Interferon-alpha may be an important factor in the inflammatory ophthalmic conditions associated with SLE.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".