Polymorphism of the SLC7A11-PCDH18 locus may be a novel genetic risk factor for juvenile idiopathic arthritis
Bibliographic record
Abstract
Полиморфизм T>C rs13128867, расположенный между генами SLC7A11 и PCDH18, первоначально описан как новый локус предрасположенности к болезни Кавасаки (БК) в китайской популяции. Частью нашего исследования по идентификации аллелей риска ювенильных аутоиммунных ревматических заболеваний был анализ связи между полиморфизмом rs13128867 и БК, ювенильным идиопатическим артритом (ЮИА), ювенильной системной красной волчанкой (ЮСКВ) у представителей европеоидной расы, проживающих в Беларуси. В исследование было включено 675 детей и подростков, в том числе 289 пациентов в возрасте до 17 лет на момент начала заболеваний и 386 человек, которые не имели аутоиммунных, воспалительных или суставных заболеваний и служили клиническим контролем. Образцы геномной ДНК были генотипированы методом ПЦР в реальном времени. Сравнение случай-контроль было скорректировано по полу с целью уменьшения неравномерности гендерного распределения между группами, а значения p были скорректированы с использованием метода Бенджамини-Хохберга. Частота минорного аллеля C rs13128867 в контрольной группе составила 17,6%, что соответствует другим европейским популяциям. Результаты анализа ассоциации полиморфизма rs13128867 с БК не совпали с данными, полученными в китайской популяции. Дальнейший анализ выявил ассоциацию минорного аллеля rs13128867 с ЮИА (OR = 1,50; 95% ДИ 1,11-2,03; padj = 0,027) и олигоартритом - наиболее распространенным подтипом ЮИА (OR = 1,67; 95% ДИ 1,17-2,39; padj = 0,016). Также наблюдалась тенденция к ассоциации минорного аллеля rs13128867 с ЮСКВ. Таким образом, результаты исследования впервые продемонстрировали, что полиморфизм rs13128867 SLC7A11-PCHD18 может быть новым генетическим фактором риска ЮИА у пациентов европеоидной расы, однако для подтверждения этого факта необходимы дальнейшие исследования. The rs13128867 (T>C) polymorphism located between SLC7A11 and PCDH18 genes was originally described as a new susceptibility locus for Kawasaki disease (KD) in the Chinese population. Focusing on the identification of risk alleles for juvenile-onset autoimmune rheumatic diseases, the presented paper aims to demonstrate the results of the study undertaken to investigate an association between the rs13128867 polymorphism and KD, juvenile idiopathic arthritis (JIA), and juvenile systemic lupus erythematosus (JSLE) in Caucasians living in Belarus. In total, 675 children and adolescents under 17 at the onset of the disease were included in the study performed, and 386 out of them were without any autoimmune, inflammatory, or joint disorders and served as the clinical control. Genomic DNA samples were genotyped using the real-time PCR technique. Case-control comparison was adjusted for sex with a view of reducing uneven gender distribution between the groups, and p-values were adjusted with the Benjamini-Hochberg procedure. The rs13128867 minor C allele frequency in the control group was found to be 17.6% that is close to other European populations. At the same time, an associative analysis of the rs13128867 polymorphism with KD did not replicate the data known for the Chinese population. Further analysis revealed an association between the rs13128867 minor allele with JIA (OR = 1.50, 95% CI 1.11-2.03, padj = 0.027) and oligoarthritis - the most common JIA subtype (OR = 1.67, 95% CI 1.17-2.39, padj = 0.016). A tendency to association of the rs13128867 minor allele and JSLE was also observed. Thus, the study results demonstrated for the first time that the SLC7A11-PCHD18 rs13128867 polymorphism may be a novel genetic risk factor for JIA in Caucasian patients. However, a further investigation into the rs13128867 polymorphism is strongly required.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| 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 | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 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".