OBJECTIVE: Our aim was to investigate the correlation between onset age, clinical features and HLA-DQA1/DQB1 genetic variability in myasthenia gravis (MG) patients in Southern Han Chinese. METHODS: 205 MG patients and 100 controls were genotyped for HLA-DQA1 and -DQB1 using sequence-based typing (SBT) and analyzed for haplotype frequencies. Anti-acetylcholine receptor (AChR) autoantibodies were measured in all, and muscle-specific tyrosine kinase (MuSK) antibodies were tested in AChR antibody negative patients. RESULTS: HLA-DQA1/DQB1 haplotypes showed association only with childhood-onset MG. Haplotype DQA1*03:02/DQB1*03:03:02 (DQ9) was positively associated with the childhood-onset MG, while haplotype DQA1*02:01/DQB1*02:02 and DQA1*05:01:01/DQB1*02:01:01 (DQ2) were negatively associated with this group. Childhood-onset ocular MG patients had an extremely high phenotype frequency of DQ9 haplotype (90.1% of patients, 34.0% of controls, p≤0.0001, OR=17.8). CONCLUSIONS: The childhood-onset ocular MG in Southern Han Chinese may present a particular subgroup of distinct genetic background. Its correlation to the HLA haplotype DQA1*03:02/DQB1*03:03:02 might explain the phenotypic difference of MG between Han Chinese and Caucasians.
OBJECTIVE: Our aim was to investigate the correlation between onset age, clinical features and HLA-DQA1/DQB1 genetic variability in myasthenia gravis (MG) patients in Southern Han Chinese. METHODS: 205 MGpatients and 100 controls were genotyped for HLA-DQA1 and -DQB1 using sequence-based typing (SBT) and analyzed for haplotype frequencies. Anti-acetylcholine receptor (AChR) autoantibodies were measured in all, and muscle-specific tyrosine kinase (MuSK) antibodies were tested in AChR antibody negative patients. RESULTS:HLA-DQA1/DQB1 haplotypes showed association only with childhood-onset MG. Haplotype DQA1*03:02/DQB1*03:03:02 (DQ9) was positively associated with the childhood-onset MG, while haplotype DQA1*02:01/DQB1*02:02 and DQA1*05:01:01/DQB1*02:01:01 (DQ2) were negatively associated with this group. Childhood-onset ocular MGpatients had an extremely high phenotype frequency of DQ9 haplotype (90.1% of patients, 34.0% of controls, p≤0.0001, OR=17.8). CONCLUSIONS: The childhood-onset ocular MG in Southern Han Chinese may present a particular subgroup of distinct genetic background. Its correlation to the HLA haplotype DQA1*03:02/DQB1*03:03:02 might explain the phenotypic difference of MG between Han Chinese and Caucasians.
Authors: Ann M Dixon; Lisa Drake; Kelly T Hughes; Elizabeth Sargent; Danielle Hunt; Jonathan A Harton; James R Drake Journal: J Biol Chem Date: 2014-03-11 Impact factor: 5.157
Authors: Maria Salvado; Jose Luis Caro; Cecilia Garcia; Francesc Rudilla; Laura Zalba-Jadraque; Eva Lopez; Elia Sanjuan; Josep Gamez; Jose Manuel Vidal-Taboada Journal: Neurol Sci Date: 2022-05-06 Impact factor: 3.830
Authors: Hongling Wang; Guoying Zhou; Linjie Luo; J Bart A Crusius; Anlong Yuan; Jiguang Kou; Guifang Yang; Min Wang; Jing Wu; B Mary E von Blomberg; Servaas A Morré; A Salvador Peña; Bing Xia Journal: Medicine (Baltimore) Date: 2015-10 Impact factor: 1.817