The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population.

Adult-onset Still's disease (AOSD) is a rare autoinflammatory disease with systemic involvement, and its pathophysiology remains unclear. Genome-wide association studies (GWAS) in the Chinese population have revealed an association between AOSD and the major histocompatibility complex (MHC) locus; however, causal variants in the MHC remain undetermined. In the present study, we identified independent amino-acid polymorphisms in human leukocyte antigen (HLA) molecules that are associated with Han Chinese patients with AOSD by fine-mapping the MHC locus. Through conditional analyses, we identified position 34 in HLA-DQα1 (p = 1.44 × 10-14) and Asn in HLA-DRß1 position 37 (p = 5.12 × 10-11) as the major determinants for AOSD. Moreover, we identified the associations for three main HLA class II alleles: HLA-DQB1*06:02 (OR = 2.70, p = 3.02 × 10-14), HLA-DRB1*15:01 (OR = 2.44, p = 3.66 × 10-13), and HLA-DQA1*01:02 (OR = 1.97, p = 1.09 × 10-9). This study reveals the relationship between functional variations in the class II HLA region and AOSD, implicating the MHC locus in the pathogenesis of AOSD.

Clinical features and current treatments of adult-onset Still's disease: a multicentre survey of 517 patients in China.

OBJECTIVES: As a rare systemic autoinflammatory disease, adult-onset Still's disease (AOSD) has heterogeneous clinical manifestations, response to treatment and outcome. This study tried to assess the clinical characteristics, laboratory tests, and treatments of Chinese AOSD patients, and make a retrospective analysis. METHODS: We collected from 7 hospitals in China a total of 517 Chinese patients with AOSD who satisfied the Yamaguchi criteria. We retrospectively evaluated their clinical features, laboratory tests, treatments and compared them with published data from different studies. All the data in this study were from medical records and further statistic analyses. RESULTS: We evaluated a total of 517 AOSD patients, 72% female, average age of onset was 37.7; spiking fever, rash and arthralgia occurred in 472 (91.3%), 413 (79.9%), 378 (73.1%) cases, respectively. There were 439/513 (85.6%) cases with leukocytosis and 456/476 (95.8%) cases with raised serum ferritin. The highest frequently used medications and regimens for remission were glucocorticoids (498/517, 96.3%), methotrexate (273/517, 52.8%) and hydroxychloroquine (174/517, 33.7%). 84.4%. 357/423 of AOSD cases were able to achieve initial remission with different regimens, mostly including glucocorticoids, methotrexate or hydroxychloroquine. 47.2% of them (244/517) received 30

The value of anti-C1q antibody test in lupus nephritis patients / 中华风湿病学杂志

Objective@#To assess the association between lupus nephritis disease activity and anti-C1q antibodies.@*Methods@#The study analyzed the medical records of 98 patients with lupus nephritis (LN), 35 patients without lupus nephritis. LN disease activity was measured by the systemic lupus international collaborating clinics (SLICC) renal activity score of 2008. All biopsied tissues were scored based on the International society of nephrology/Renal pathology society (ISN/RPS) 2003 LN pathological typing standards, acute and chronic index scores were used to evaluate the activities of lupus. All patients were test for the levels of anti-dsDNA and anti-C1q antibodies using the enzyme-linked immuno sorbent assay (ELISA), C3, C4, 24-hour urinary protein performed in parallel. For normally distributed quantitative parameters, the differences between groups were assessed by t test. Mann-Whitney U test was performed for non-normally distributed data. The cut-off values were evaluated by using receiver operating characteristic (ROC). The Spearman methods were used to test correlations.@*Results@#Patients with LN had a higher levels of anti-C1q antibodies than patients without lupus nephritis [3.94 (10.2, 91.3) AU/ml与6.9 (2.0, 15.4) AU/ml; Z=-4.299, P<0.01]. Patients with inactive lupus nephritis had higher levels of C1q, C3, C4 than active LN (t=2.393, 3.777, 2.557; P<0.05). Patients with active lupus nephritis had higher levels of anti-C1q antibodies than inactive LN (Z=-4.632, P<0.01). Anti-C1q antibody levels were positively correlated with levels of 24-hour urinary protein, AI score (r=0.327, P<0.01) and SLICC score (r=0.493, P<0.01), and were negatively correlated with serum C1q (r=-0.373, P<0.01), C3 (r=-0.532, P<0.01) and C4 (r=-0.463, P<0.01). The optimal cutoff value of Anti-C1q for a diagnosis of active LN was 48.9 RU/ml, and the sensitivity and specificity were 62.5% and 80%, respectively. The area under the curve (AUC) was 0.771.@*Conclusion@#Anti-C1q antibodies are more closely correlated with renal disease activity, and anti-C1q antibody is an important serum marker for monitoring LN activity, but its pathological mechanism in the pathogenesis of LN still needs to be further explored.