Response to: 'Questions on 'Sequencing of the MHC region defines HLA-DQA1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population' by Guo et al' by Regueiro and Gonzalez

ANNALS OF THE RHEUMATIC DISEASES(2022)

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摘要
We appreciate Dr Gonzalez’s interest and comments on our recent publication ‘Sequencing of the major histocompatibility complex (MHC) region defines human leukocyte antigen (HLA)-DQA1 as the major genetic risk for seropositive rheumatoid arthritis in Han Chinese population’.1 2 Dr Gonzalez’s comments provide us with an opportunity to clarify and discuss the frequencies of amino-acids at position DQα1:160 and the protective association of DRβ1:37N in rheumatoid arthritis (RA), and to improve our study.\n\nOne of the concerns Dr Gonzalez expressed is the frequencies of three amino-acids (Asp (D), Ala (A) and Ser (S)) at DQα1:160 do not sum up to 1.0, that is, 0.20, 0.22 and ≈0.02 in controls; 0.36, 0.37 and ≈0.01 in RA patients. The explanation is that the ‘minor frequencies’ was set as default …
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关键词
epidemiology,gene polymorphism,rheumatoid arthritis
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