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• W2970952976 abstract "Adult-onset Still's disease (AOSD) is a rare autoinflammatory condition with unclear aetiology and highly heterogeneous manifestations, such as spiking fever, skin rash and arthralgia (or arthritis).1 2 AOSD is usually the result of both genetic and environmental factors. However, only a few genetic loci have been associated with AOSD, and none of them have reached the threshold for genome-wide significance (GWS) of p<5×10−8.2 3 For example, HLA-DRB1 was strongly associated with AOSD in previous studies (the p value for the most significant association was 8.60×10−6).3 HLA-DRB1 also influences the risk of systemic juvenile idiopathic arthritis (JIA),4 which presents similarly to AOSD but differs in age of onset. In addition, functional variations in periodic fever syndrome genes have been identified in some AOSD patients (Bonferroni corrected p values ranged from 2.34×10−3 to 2.40×10−4).5In this study, for the first time, we conducted a genome-wide association study (GWAS) to systematically screen genetic factors influencing susceptibility to AOSD (online supplementary text). Principal component analysis was adopted to evaluate population stratification between cases and controls and to detect outliers for removal (online supplementary figure S1). After quality control and imputation, a total of 3 547 931 variants in 264 AOSD cases and 2420 controls (discovery: 247 cases vs 2163 controls; replication: 17 cases vs 257 controls; online supplementary text and table S1) from China …" @default.
• W2970952976 created "2019-09-05" @default.
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• W2970952976 date "2019-08-30" @default.
• W2970952976 modified "2023-10-15" @default.
• W2970952976 title "Both <i>HLA</i> class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still's disease in Chinese individuals" @default.
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• W2970952976 doi "https://doi.org/10.1136/annrheumdis-2019-215239" @default.
• W2970952976 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6937403" @default.
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