当前位置: X-MOL 学术J. Autoimmun. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
The amino acid variants in HLA II molecules explain the major association with adult-onset Still's disease in the Han Chinese population
Journal of Autoimmunity ( IF 12.8 ) Pub Date : 2020-11-06 , DOI: 10.1016/j.jaut.2020.102562
Jia-Lin Teng 1 , Xia Chen 1 , Jianhua Chen 2 , Ting Zeng 3 , Lin He 4 , Meihang Li 5 , Cai-Nan Luo 6 , Shuang Liu 7 , Ting-Ting Ding 8 , Kuerbanjiang Yimaiti 6 , Xingwang Li 9 , Yonghe Ding 5 , Xiao-Bing Cheng 1 , Juan Zhou 9 , Jun-Na Ye 1 , Jue Ji 9 , Yu-Tong Su 1 , Hui Shi 1 , Yue Sun 1 , Chengwen Gao 5 , Qiong-Yi Hu 1 , Hui-Hui Chi 1 , Xuan Yuan 5 , Zhuo-Chao Zhou 1 , Dong Wang 9 , Ke Wang 9 , Dong Feng 5 , Changgui Li 5 , Yuanchao Sun 5 , Yujuan Niu 5 , Xiaolei Xu 5 , Lin-Jie Chen 8 , Jian Xu 7 , Li-Jun Wu 6 , Zhaowei Zhou 9 , Dun Pan 9 , Haitao Niu 10 , Cheng-de Yang 1 , Yongyong Shi 11 , Zhiqiang Li 12 , Hong-Lei Liu 1
Affiliation  

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.

更新日期:2020-11-06
down
wechat
bug