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  • Title: The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population.
    Author: Teng JL, Chen X, Chen J, Zeng T, He L, Li M, Luo CN, Liu S, Ding TT, Yimaiti K, Li X, Ding Y, Cheng XB, Zhou J, Ye JN, Ji J, Su YT, Shi H, Sun Y, Gao C, Hu QY, Chi HH, Yuan X, Zhou ZC, Wang D, Wang K, Feng D, Li C, Sun Y, Niu Y, Xu X, Chen LJ, Xu J, Wu LJ, Zhou Z, Pan D, Niu H, Yang CD, Yongyong Shi, Li Z, Liu HL.
    Journal: J Autoimmun; 2021 Jan; 116():102562. PubMed ID: 33168359.
    Abstract:
    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-DRβ1 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.
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