Altered <i>CTLA-4</i> Expression and Genetic Variation Drive Autoimmune Susceptibility in Turner Syndrome
Bibliographic record
Abstract
Background: Patients with Turner syndrome (TS) exhibit an increased susceptibility to autoimmune and chronic inflammatory diseases compared to the general female population. Recent studies have implicated immune regulatory genes, including cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), a key player in immunosuppression, in this predisposition. This study investigated the CTLA-4 rs3087243 (G>A) polymorphism and gene expression profiles in patients with TS to assess their potential association with immunological dysregulation. Methods: A genetic association study was conducted in 112 patients with TS (with and without autoimmune/inflammatory diseases) and compared to 241 healthy women using TaqMan genotyping. Additionally, CTLA-4 mRNA levels were quantified via quantitative polymerase chain reaction (qPCR) in 15 TS patients and 15 controls, including TS subgroups with (n = 9) and without (n = 10) autoimmune/inflammatory conditions. Results: The G allele was more prevalent in TS patients with autoimmune diseases (P = 0.047; odds ratio (OR) = 0.51; 95% confidence interval (CI) = 0.25 - 1.02), while the GA genotype appeared protective in controls (P < 0.001; OR = 0.14; 95% CI = 0.06 - 0.3). No association was found between CT60 and inflammatory diseases in TS. Notably, CTLA-4 expression was significantly downregulated in patients with TS compared to controls (-19.38-fold change; P < 0.001), although no differences were detected between TS subgroups with and without immune-related conditions (P = 0.8413). Conclusions: These findings highlight a possible role of CTLA-4 in TS-associated immune dysregulation, particularly through reduced expression, which may contribute to altered immune responses. Although the rs3087243 polymorphism showed limited clinical association, its differential distribution in patients with TS versus healthy controls underscores the genetic complexity of immune regulation in TS. Further research is needed to elucidate the mechanistic links between CTLA-4 variants, expression patterns, and autoimmune susceptibility in TS.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 |
| Science and technology studies | 0.000 | 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".