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目的探讨HLA-DQB1基因多态性与新疆人群重症肌无力(MG)的相关性。方法采用基因测序的方法对120例新疆地区MG患者及120例健康对照者进行HLA-DQB1等位基因的检测,并比较MG组与对照组之间等位基因型频率的差异。结果共检测出14种HLA-DQB1等位基因片段,其中DQB1*05:03等位基因频率MG组显著高于健康对照组(OR=2.818,P=0.002),而DQB1*02:01:01、DQB1*06:02等位基因频率显著低于对照组(OR=0.179,P=0.006;OR=0.511,P<0.001)。DQB1*04:01:01、DQB1*05:03等位基因频率在MG汉族组显著高于对照汉族组(OR=4.000,P=0.009;OR=3.077,P=0.006),DQB1*02:01:01、DQB1*06:02等位基因频率MG汉族组显著低于对照汉族组(OR=0.358,P=0.002;OR=0.207,P<0.001)。MG维吾尔族组与对照维吾尔族组相比DQB1等位基因频率差异无统计学意义。结论新疆MG患者可能和HLA-DQB1*05等位基因有关,DQB1*04:01:01可能与汉族人群MG相关。MG患者中缺乏DQB1*06:02、DQB1*02:01:01,可能在新疆人群中起保护作用。
Objective To investigate the association between HLA-DQB1 gene polymorphism and myasthenia gravis (MG) in Xinjiang. Methods The HLA-DQB1 alleles were detected in 120 cases of MG patients and 120 healthy controls by using gene sequencing method. The differences of allele frequencies between MG group and control group were compared. Results A total of 14 HLA-DQB1 alleles were detected. The frequency of DQB1 * 05: 03 allele in MG group was significantly higher than that in healthy control group (OR = 2.818, P = 0.002), while DQB1 * 02: 01: 01 , The allele frequency of DQB1 * 06: 02 was significantly lower than that of the control group (OR = 0.179, P = 0.006; OR = 0.511, P <0.001). The allele frequencies of DQB1 * 04: 01: 01 and DQB1 * 05: 03 were significantly higher in the MG Han population than in the control Han population (OR = 4.000, P = 0.009; OR = 3.077, P = 0.006) : 01, DQB1 * 06: 02 allele frequency was significantly lower in the MG Han group than in the control Han group (OR = 0.358, P = 0.002; OR = 0.207, P <0.001). There was no significant difference in the frequencies of DQB1 alleles between MG Uygur group and control Uygur group. Conclusion The MG patients in Xinjiang may be related to HLA-DQB1 * 05 allele. DQB1 * 04: 01: 01 may be related to MG in Han population. The lack of DQB1 * 06: 02, DQB1 * 02: 01: 01 in MG patients may play a protective role in the Xinjiang population.