Health-related quality of life (HRQoL) is a critical patient-reported outcome in systemic lupus erythematosus (SLE). We aimed to evaluate longitudinal trajectories of HRQoL and identify associated clinical and demographic determinants. This longitudinal cohort study included 1005 patients with SLE from the Asia Pacific Lupus Collaboration. HRQoL was assessed using the Short Form-36 (SF-36) at baseline, 12, and 24 months. Disease activity and organ damage were recorded using validated composite indices (SLEDAI-2 K and SLICC damage index). Generalized estimating equations (GEE) analyzed longitudinal trajectories of Physical Component Summary (PCS) and Mental Component Summary (MCS) scores. Among 915 women (91.0

OBJECTIVE:To characterise the age-related impact of organ damage patterns on health-related quality of life (HRQoL) in patients with SLE and to identify specific damage patterns affecting physical and mental health outcomes across different age groups. METHODS:In this cross-sectional study, 1149 patients with SLE from the Asia Pacific Lupus Collaboration cohort were stratified by age. HRQoL was assessed using the Short Form-36 questionnaire. Clinical characteristics and organ damage (Systemic Lupus International Collaborating Clinics (SLICC) Damage Index) were evaluated. Multiple linear regression analyses identified factors associated with the Physical (PCS) and Mental Component Summary (MCS) scores. RESULTS:Significant age-related differences were observed in physical HRQoL, with the age group ≥50 years showing lower PCS scores (median 52.6) than the age groups <20 years (56.9) and 20-50 years (57.5) (p<0.001). In multivariable models, higher SLICC Damage Index (β=-1.39), lower educational attainment (β=-7.02) and prednisolone use (β=-1.85) were independently associated with lower PCS scores. MCS scores were positively associated with male gender (β=4.40) and secondary education (β=2.46), but negatively impacted by higher damage index (β=-0.90) and cyclophosphamide use (β=-5.44). Specific damage patterns, such as avascular necrosis, particularly impaired bodily pain and physical functioning domains. CONCLUSION:Age-related differences in SLE predominantly affect physical rather than mental aspects of HRQoL. Cumulative organ damage remains a central modifiable factor associated with poorer outcomes across all ages. These findings emphasise the importance of age-specific management strategies and early damage prevention to optimise long-term HRQoL in patients with SLE.

AIM:This study aimed to identify indicators for the early diagnosis and management of pulmonary arterial hypertension (PAH) in patients with connective tissue disease (CTD). METHOD:This retrospective study included patients with CTD who met the criteria for right heart catheterization (RHC) according to contemporary guidelines for pulmonary hypertension (PH) with an intermediate to high echocardiographic probability of PH at a medical center in Taiwan. The data collected was analyzed. RESULTS:This study enrolled 92 patients, comprising 21 with systemic sclerosis (SSc) and 71 without SSc (non-SSc). PH and PAH were diagnosed in 67 (72.8%) and 55 (59.8%) patients, respectively, and 41 (44.6%) patients required PAH-specific medications. A high echocardiographic probability of PH significantly predicted both PH and PAH in all patients (adjusted odds ratio [OR] 7.30, 95% confidence interval [CI] 2.34-22.76 and OR 6.02, 95% CI 1.65-21.93), as well as in the non-SSc subgroup (adjusted OR 20.51 [4.41-95.45] and 15.95 [2.62-96.92]). N-terminal pro-B-type natriuretic peptide (NT-proBNP) ≥ 300 pg/mL predicted PH in the overall cohort and non-SSc subgroup (adjusted OR 3.55 [1.15-10.96] and 5.22 [1.15-23.66]). Pericardial effusion was associated with PH and PAH in the overall cohort (adjusted OR 11.99 [1.35-106.62] and 11.13 [1.23-101.07]) but not in the non-SSc subgroup. None of the aforementioned parameters significantly associated with the need for PAH-specific medications. CONCLUSIONS:A high echocardiographic probability of PH and NT-proBNP ≥ 300 pg/mL predict PH in CTD patients. Pericardial effusion may further aid in PH/PAH detection, though not in the non-SSc subgroup. RHC remains essential to confirm treatment eligibility.

OBJECTIVE:To identify associated and protective factors of rapid spinal radiographic progression in axial spondyloarthritis (axSpA) using artificial intelligence (AI). METHODS:We conducted a hospital-based retrospective cohort study involving 242 axSpA patients taken ≥2 lateral spine radiographs between 2002 and 2024. Spinal damage was assessed with modified Stoke Ankylosing Spondylitis Spine Score (mSASSS) by a deep learning model. Each pair of consecutive radiographs defined an observational interval (total 379 intervals); annual mSASSS progression rate was calculated for each interval. Demographics, clinical features, baseline mSASSS, activity indices, cumulative dosage of prescriptions, and laboratory recordings were collected. Time-dependent generalized estimating equations (GEE) were applied to identify associated or protective factors of rapid spinal radiographic progression (ΔmSASSS/year >1), accounting for within-patient correlation. RESULTS:For recorded intervals, mean mSASSS progression was 0.5/year; 26.7% of intervals showed progression >1/year. For enrolled patients, mean mSASSS progression was 0.6/year; 27.3% of intervals showed progression >1/year. Conditional multivariable GEE analysis revealed age at baseline mSASSS, especially ≥40 years, was independently associated with rapid mSASSS progression [adjusted odds ratio (aOR), 1.03; 95% confidence interval (CI), 1.003-1.06]. Higher cumulative dosage of non-steroidal anti-inflammatory drugs (NSAIDs) during the intervals was negatively associated with rapid mSASSS progression (aOR, 0.38; 95% CI, 0.19-0.75). Cumulative dosage of tumor necrosis factor inhibitors and secukinumab during the intervals was independent of rapid mSASSS progression. CONCLUSIONS:Using AI-assisted mSASSS scoring, this retrospective cohort study identified older age at assessment as an associated factor and full-dose NSAIDs use as protective factor for rapid spinal radiographic progression.

PT018 / #183 Topic: AS12 - Genetics, Epigenetics, Transcriptomics POSTER TOUR 05: SLE PATHOGENESIS 24-05-2025 10:00 AM - 10:20 AM Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by complex immunological disturbances. Early detection is challenging due to heterogeneous clinical manifestations. Understanding cellular and molecular changes from preclinical (pre-SLE) to clinical stages is essential for early intervention. Polygenic risk score (PRS) has been widely used to identify subjects at risk. However, the immune dysregulation of subjects with high SLE-PRS has never been demonstrated. This study aims to delineate the cellular transcriptomic landscapes of healthy controls, pre-SLE, and SLE patients using single-cell RNA sequencing (scRNA-seq) to identify molecular signatures associated with disease progression. Peripheral blood mononuclear cells (PBMCs) were collected from 10 healthy controls, 23 pre-SLE patients with top 5% SLE-PRS without previous diagnosis of SLE, and 12 SLE patients. scRNA-seq was performed using the BD Rhapsody. Data was processed and analyzed with Seurat and other bioinformatics tools to identify differentially expressed genes and pathway enrichments across cell types and patient groups. The analysis revealed distinct transcriptional profiles among the 3 groups. PBMCs (peripheral blood mononuclear cells) were clustered and annotated into 5 major cell types: B cells, CD4+ T cells, CD8+ T cells, monocytes, and NK cells, as shown by UMAP (Uniform Manifold Approximation and Projection). Additionally, the cells were further categorized into myeloid and lymphoid lineages. The myeloid-to-lymphoid (M/L) ratio progressively increased in the healthy controls to pre-SLE and SLE patients, indicating an elevated myeloid cell presence as the disease progresses (Figure 1). To identify key immune cell types within the lymphoid subsets, further clustering and analysis of immune cell were performed to resolve immune subpopulations (Figure 2). Differential gene expression between pre-SLE patients and healthy controls was visualized using volcano plots across key immune cell populations (Figure 3). Notably, pre-SLE patients exhibited significant upregulation of genes associated with early immune activation and dysregulation, such as IFI44L and IGKC, suggesting that these genes may act as potential molecular drivers in the pathogenesis of SLE. Figure 1. UMAP clustering of immune cells from healthy controls, pre-SLE, and SLE patients with distinct color-coded cell types. The accompanying table and scatter plot demonstrate an elevated myeloid-to-lymphoid ratio in pre-SLE and SLE, highlighting immune composition shifts. Figure 2. UMAP with subcluster analysis of immune cell types, displaying specific populations such as memory B cells and T cell subsets. Figure 3. Volcano plots show differentially expressed genes in various immune cell populations between pre-SLE and healthy controls. Our findings demonstrate progressive immune dysregulation at the single-cell level from pre-SLE to SLE patients. The identified molecular signatures, altered cell subsets, and immune composition shifts provide insights into SLE pathogenesis and suggest potential biomarkers for early diagnosis and therapeutic targets.

To the Editor: Dupilumab has induced significant reduction of the disease burden in patients with atopic dermatitis (AD). However, the comparative efficacy of dupilumab versus conventional treatments in patients with AD has not been evaluated. We conducted a study based on the Taichung Veterans General Hospital AD cohort. Consecutive adult patients (age ≥20 years) who were diagnosed with AD according to the criteria provided by Hanifin and Rajka1 were enrolled in this cohort. Patients who had been treated for at least 3 months were analyzed in December 2022.

OBJECTIVE:Lupus nephritis (LN), a common manifestation of systemic lupus erythematosus, is associated with a higher risk of kidney failure and death. The renal pathology of LN helps elucidate the severity of inflammation and the extent of irreversible damage. We aimed to identify histologic variables that correlate with risks of kidney failure and mortality.METHODS:Between 2006 and 2019, a total of 526 patients with LN were enrolled. Renal pathology was classified according to the International Society of Nephrology/Renal Pathology Society classification. Components of activity and chronicity indices were analyzed to determine which variables correlated with an increased risk of kidney failure and death, with the adjustment of potential confounders.RESULTS:During the follow-up period (median 7.5, IQR 3.5-10.7 years), 58 patients progressed to kidney failure and 64 died. In the multivariate Cox regression analysis, tubular atrophy (hazard ratio [HR] 2.28, 95% CI 1.66-3.14) and tubulointerstitial inflammation (HR 3.13, 95% CI 1.34-7.33) predicted kidney failure. The renal outcome was even worse if tubular atrophy and tubulointerstitial inflammation coexisted (10-year kidney survival rate: 63.22%). The presence of cellular crescents was associated with an increased risk of death in male patients with LN (HR 1.91, 95% CI 1.02-3.57), whereas the presence of fibrous crescents predicted death in female patients with LN (HR 5.70, 95% CI 1.61-20.25).CONCLUSION:Histologic variables of renal biopsy in LN could be regarded as prognostic indicators for kidney failure and mortality.

To investigate the impact of an electronic medical record management system (EMRMS) on disease activity and the frequency of outpatient visits among patients with ankylosing spondylitis (AS). We identified 652 patients with AS who were followed up for at least 1 year before and after the first Ankylosing Spondylitis Disease Activity Score (ASDAS) assessment and compared the number of outpatient visits and average visit time within 1 year before and after the initial ASDAS assessment. Finally, we analyzed 201 patients with AS who had complete data and received ≥ 3 continuous ASDAS assessments at an interval of 3 months, and we compared the results of the second and third ASDAS assessments with those of the first. The number of annual outpatient visits increased after ASDAS assessment (4.0 (4.0, 7.0) vs. 4.0 (4.0, 8.0), p < 0.001), particularly among those with a high initial disease activity. The average visit time was reduced within 1 year after ASDAS assessment (6.4 (8.5, 11.2) vs. 6.3 (8.3, 10.8) min, p = 0.073), especially among patients whose with an inactive disease activity was < 1.3 (ASDAS C-reactive protein (CRP) 6.7 (8.8, 11.1) vs. 6.1 (8.0, 10.3) min, p = 0.033; ASDAS erythrocyte sedimentation rate (ESR) 6.4 (8.7, 11.1) vs. 6.1 (8.1, 10.0) min, p = 0.027). Among patients who received at least three ASDAS assessments, the third ASDAS-CRP tended to be lower than the first (1.5 (0.9, 2.1) vs. 1.4 (0.8, 1.9), p = 0.058). The use of an EMRMS increased the frequency of ambulatory visits among AS patients with high and very high disease activity and reduced the visit time among those with an inactive disease. Continual ASDAS assessments may help control the disease activity of patients with AS.

Elderly-onset rheumatoid arthritis (EORA) is associated with an increased mortality risk; however, the effect of conventional synthetic, biologics or targeted synthetic disease-modifying anti-rheumatic drugs (csDMARDs, bDMARDs or tsDMARDs) on the EORA-specific mortality risk is unknown. In this study, we investigated the risk factors for all-cause mortality of patients with EORA. Data of EORA patients diagnosed with RA at age > 60 years between January 2007 and June 2021 were extracted from the electronic health record of Taichung Veterans General Hospital, Taiwan. Multivariable Cox regression was used to calculate the hazard ratio (HR) and 95

Several factors have been found to be predictors of a good response following omalizumab treatment in patients with severe allergic asthma (SAA). However, it remains unclear whether clinical characteristics can predict a minimal clinically important difference (MCID) following omalizumab treatment in this population. Therefore, the aim of this study was to investigate the features associated with an MCID following omalizumab treatment in adult patients with SAA. Of the 124 participants enrolled in this retrospective, cross-sectional study, 94, 103, 20 and 53 achieved the MCID following treatment with omalizumab and were considered to be responders of exacerbation reduction (no exacerbation during the 1-year follow-up period or ≧50% reduction in exacerbations from baseline), oral corticosteroid (OCS) sparing (no use of OCS to control asthma during the study period or a reduction of the monthly OCS maintenance dose to <50% of baseline), lung function (an increase of ≧230 ml in the forced expiratory volume in 1 s from baseline) and asthma control (an increase of ≧3 points in the asthma control test score from baseline), respectively. Normal weight [<25 vs. ≧30 kg/m2, odds ratio (OR) = 3.86, p = 0.024] was predictive of a responder of reduction in exacerbations following omalizumab treatment while subjects with a blood eosinophil level of <300 cells/μL (<300 vs. ≧300 cells/μL, OR = 5.81, p = 0.001) were more likely to exhibit an MCID in OCS sparing. No factor was found to be a predictor of lung function or asthma control. When choosing treatment for adult patients with SAA, our findings may help to select those who may benefit the most from omalizumab treatment.

Objectives To investigate the differences between the vector vaccine ChAdOx1 nCoV-19/AZD1222 (Oxford-AstraZeneca) and mRNA-based vaccine mRNA-1273 (Moderna) in patients with autoimmune rheumatic diseases (AIRD), and to explore the cell-cell interactions between high and low anti-SARS-CoV-2 IgG levels in patients with rheumatic arthritis (RA) using single-cell RNA sequencing (scRNA-seq). Methods From September 16 to December 10, 2021, we consecutively enrolled 445 participants (389 patients with AIRD and 56 healthy controls), of whom 236 were immunized with AZD1222 and 209 with mRNA-1273. The serum IgG antibodies to the SARS-CoV-2 receptor-binding domain was quantified by electrochemiluminescence immunoassay at 4-6 weeks after vaccination. Moreover, peripheral blood mononuclear cells (PBMCs) were isolated from RA patients at 4-6 weeks after vaccination for scRNA-seq and further analyzed by CellChat. ScRNA-seq of PBMCs samples from GSE201534 in the Gene Expression Omnibus (GEO) database were also extracted for analysis. Results The anti-SARS-CoV-2 IgG seropositivity rate was 85.34% for AIRD patients and 98.20% for healthy controls. The anti-SARS-CoV-2 IgG level was higher in patients receiving mRNA-1273 than those receiving AZD1222 (β: 35.25, 95% CI: 14.81-55.68, p=0.001). Prednisolone-equivalent dose >5 mg/day and methotrexate use in AIRD patients, and non-anti-tumor necrosis factor-α biologics and Janus kinase inhibitor use in RA patients were associated with inferior immunogenicity. ScRNA-seq revealed CD16-monocytes were predominant in RA patients with high anti-SARS-CoV2-IgG antibodies, and enriched pathways related to antigen presentation via MHC class II were found. HLA-DRA and CD4 interaction was enhanced in high anti-SARS-CoV2-IgG group. Conclusions mRNA-1273 and AZD1222 vaccines exhibited differential immunogenicity in AIRD patients. Enriched pathways related to antigen presentation via MHC class II in CD16-monocytes might be associated with higher anti-SARS-CoV2-IgG level in RA patients and further study is warranted.

Objectives:The Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) has been widely utilized to evaluate disease activity in patients with ankylosing spondylitis (AS) by an arbitrary cut-off of ≥4 to indicate high disease activity and initiate biological therapy. The Ankylosing Spondylitis Disease Activity Score (ASDAS) is a new composite index to assess AS disease activity states that have been defined and validated. ASDAS ≥2.1 was selected as a criterion to start biological therapy. The purpose of this study was to estimate the corresponding BASDAI and ASDAS cut-off in a Taiwanese AS cohort.Methods:From November 2016 to October 2018, we assessed the ASDAS and the BASDAI regularly and recorded demographic data for 489 AS patients in Taichung Veterans General hospital (TCVGH) using an electronic patient-reported data system linked to electronic medical records. We used receiver operating characteristic curves with Youden's J statistic to determine the BASDAI values that correspond to ASDAS disease activity cut-offs (i.e., 1.3, 2.1, and 3.5).Results:In our population, the best trade-off BASDAI values corresponding to ASDAS -C-reactive protein (CRP) 1.3, 2.1, and 3.5 were 2.1, 3.1, and 3.7, respectively. The optimal BASDAI values corresponding to ASDAS-erythrocyte sedimentation rates 1.3, 2.1, and 3.5 were 2.0, 2.6, and 4.8, respectively.Conclusion:We propose a revised BASDAI cut-off based on our data, as BASDAI scores are commonly used globally. A more reasonable, lower BASDAI cut-off to initiate or change biological therapy will bring us closer to better decisions to treat AS patients.

Abstract Background To investigate the impact of an electronic medical record management system (EMRMS) on disease activity and the frequency of outpatient visits among patients with ankylosing spondylitis (AS). Methods We identified 652 patients with AS who were followed up for at least 1 year before and after the first Ankylosing Spondylitis Disease Activity Score (ASDAS) assessment and compared the number of outpatient visits and average visit time within 1 year before and after the initial ASDAS assessment. Finally, we analyzed 201 patients with AS who had complete data and received ≥ 3 continuous ASDAS assessments at an interval of 3 months, and we compared the results of the second and third ASDAS assessments with those of the first. Results The number of annual outpatient visits increased after ASDAS assessment (5.8 ± 3.4 vs. 5.4 ± 3.4, p < 0.001), particularly among those with a high initial disease activity. The average visit time was reduced within 1 year after ASDAS assessment (8.7 ± 3.8 vs. 9.2 ± 4.4 min, p = 0.030), especially among patients whose ASDAS-C-reactive protein (CRP) was < 1.3 (8.5 ± 3.3 vs. 9.2 ± 4.2 min, p = 0.022). Among patients who received at least three ASDAS assessments, the third ASDAS-CRP was significantly lower than the first (1.5 ± 0.8 vs. 1.6 ± 0.8, p = 0.049). Conclusion The use of an EMRMS increased the frequency of ambulatory visits among AS patients with high disease activity and reduced the visit time among those with an inactive disease. Continual ASDAS assessments may help control the disease activity of patients with AS. Trial registration Institutional Review Board (IRB) of Taichung Veterans General Hospital (TCVGH-IRB No.: CE20145B)

ObjectivesMAP4K3 (GLK) overexpression in T cells induces interleukin (IL)-17A production and autoimmune responses. GLK overexpressing T-cell population is correlated with severity of human systemic lupus erythematosus (SLE); however, it is unclear how GLK is upregulated in patients with SLE.MethodsWe enrolled 181 patients with SLE and 250 individuals without SLE (93 healthy controls and 157 family members of patients with SLE) in two independent cohorts from different hospitals/cities. Genomic DNAs of peripheral blood mononuclear cells were subjected to next-generation sequencing to identify GLK gene variants. The functional consequences of the identified GLK germline or somatic variants were investigated using site-directed mutagenesis and cell transfection, followed by reporter assays, mass spectrometry, immunoblotting, coimmunoprecipitation, and in situ proximity ligation assays.ResultsWe identified 58 patients with SLE from Cohort #1 and #2 with higher frequencies of a somatic variant (chr2:39 477 124 A>G) in GLK 3′-untranslated region (UTR); these patients with SLE showed increased serum anti-double-stranded DNA levels and decreased serum C3/C4 levels. This somatic variant in 3′-UTR enhanced GLK mRNA levels in T cells. In addition, we identified five patients with SLE with GLK (A410T) germline variant in Cohort #1 and #2, as well as two other patients with SLE with GLK (K650R) germline variant in Cohort #1. Another GLK germline variant, A579T, was also detected in one patient with SLE from Cohort #2. Both GLK (A410T) and GLK (K650R) mutants inhibited GLK ubiquitination induced by the novel E3 ligase makorin ring-finger protein 4 (MKRN4), leading to GLK protein stabilisation.ConclusionsMultiple GLK germline and somatic variants cause GLK induction by increasing mRNA or protein stability in patients with SLE.

BACKGROUNDAtopic dermatitis (AD) poses a significant disease burden in adults. Environmental factors are essential in its pathogenesis.OBJECTIVEGiven the possible role of air pollutants in allergic diseases, it is worthwhile to summarize the effects of outdoor air pollution on adult AD.METHODSWe undertook a systematic review based on PubMed and EMBASE as of August 16, 2021, and found 20 relevant studies. A random-effects meta-analysis was carried out.RESULTSRegarding long-term effects (within months to years), traffic-related air pollution and particulate matter < 2.5 μm in diameter (PM2.5, per 10 μg/m³ increment) are associated with the prevalence of adult AD (OR 1.40, 95%CI [1.24, 1.58] and 1.67, 95%CI [1.26, 2.21]). Exposures to PM2.5 and nitrogen dioxide are associated with incident AD, with ORs of 2.30 (95%CI: 1.25, 4.25) and 1.30 (95%CI: 1.04, 1.61) per 10 μg/m³ increment. In terms of short term effects (within days), exposure to particulate matter < 10 μm in diameter (PM10) and sulfur dioxide (SO₂) are associated with exacerbations of AD at lag day 0 based on those time-series studies, with an excessive risk of 2.9%, in particular, per 10 μg/m³ increment in SO₂ exposure. In addition, both short-term and long-term exposures to these air pollutants are associated with AD symptoms (eczema, pruritus, and sleep disturbance).CONCLUSIONSOutdoor air pollutants exert both short-term and long-term adverse effects on adult AD, contributing to its development, severity and exacerbation of symptoms. The influence of air pollution should be considered in the management of adult AD.

Background Mycophenolate mofetil (MMF) is extensively used for induction and maintenance therapy in patients with lupus nephritis (LN). Enteric-coated mycophenolate sodium (EC-MPS) was developed to reduce the adverse gastrointestinal effects of MMF. However, the therapeutic efficacy of MMF and EC-MPS in LN remains unclear. This study aimed to examine the treatment effects of EC-MPS in LN patients with prior MMF exposure. Methods In this medical records review study, we included 54 LN patients, of whom 34 converted from MMF to EC-MPS at equimolar doses in 2016-2018 (nonmedical switching group) and 20 received continuous MMF treatment. Patients achieving complete remission or partial remission before the conversion were categorized as responders, whereas those who had never achieved complete remission or partial remission were categorized as nonresponders. Results Baseline proteinuria was higher in the nonmedical switching group. Although elevation in proteinuria was observed after nonmedical switching, the serum creatinine concentration and estimated glomerular filtration rate both improved. Responders in the nonmedical switching group had lower proteinuria and higher complement 3 levels. In the subgroup analysis, albeit the modest increase in daily urine protein, anti-double-stranded DNA antibody levels, estimated glomerular filtration rate, and complements 3 and 4 seemed comparable after conversion. Conclusion Switching to EC-MPS demonstrated a similar short-term renal response to continuous MMF treatment in LN patients. Prospective randomized trials are required to verify our findings.

Adult-onset Still’s disease (AOSD) is a rare autoinflammatory disease, which has elevated autophagosome levels regulated by autophagy-related gene (ATG) expression. We investigated the associations of ATG polymorphisms with AOSD susceptibility, clinical manifestations, and disease course. The six-candidate single-nucleotide polymorphisms (SNPs) involved in autophagy were genotyped using direct sequencing on samples from 129 AOSD patients and 129 healthy participants. The differentially expressed gene products were quantified using PCR and ELISA. Significant linkage disequilibrium was noted in three SNPs of autophagy-related 16-like 1 (ATG16L1) gene (rs10210302, rs2241880, and rs1045100). Although the AA/CC/TT haplotype of ATG16L1 was not associated with the susceptibility of our AOSD patients compared with other haplotypes, those carrying this haplotype had lower mRNA expression levels of LC3-II, reflecting by autophagosome formation (p = 0.026). Patients carrying AA/CC/TT haplotype also have a significantly higher proportion of skin rash and a lower proportion of arthritis compared with other haplotypes. The AA/CC/TT haplotype was significantly associated with systemic pattern (odds ratio, 3.25; 95% confidence interval, 1.15–9.14; p = 0.026). In summary, the AA/CC/TT haplotype encoded lower levels of autophagosome formation and was associated with a higher proportion of skin rash and systemic pattern of AOSD compared with other haplotypes.