HLA-DQB1等位基因多态性与新疆人群重症肌无力的相关性研究

Study of association between HLA-DQB1 allele gene polymorphism and myasthenia gravis in Xinjiang populations

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 approach the association between HLA-DQB1 allele gene polymorphism and myasthenia gravis（ MG） in Xinjiang populations. Methods The HLA-DQB1 genotypes of the 120 patients with MG and 120 healthy controls came from Xinjiang were determined by sequencing-based typing（ SBT） method. The frequencies of the DQB1 alleles were conpared between the two groups. Results A total of 14 DQB1 alleles genes were identified. The frequency of the DQB1＊ 05： 03 allele gene in MG group was siginificantly higher than that in the healthy control group（ OR = 2. 818,P = 0. 002）,the frequency of DQB1＊ 02： 01： 01 and DQB1＊ 06： 02 allele gene in the MG group were siginificantly lower than those in the healthy control group（ OR = 0. 179,P = 0. 006; OR =0. 511,P〈0. 001） The frequency of the DQB1 ＊ 04： 01： 01、DQB1 ＊ 05： 03 allele gene in Han Chinese MG group were siginificantly higher than those in the healthy control group（ OR = 4. 000,P = 0. 009; OR = 3. 077,P = 0. 006）.The frequency of DQB1＊ 02： 01： 01 and DQB1＊ 06： 02 allele gene in the Han Chinese MG group were siginificantly lower than those in control group（ OR = 0. 358,P = 0. 002; OR = 0. 207,P〈0. 001）. However,the HLA-DQB1 gene had no difference between Uighur MG patients and the healthy control group. Conclusions MG in Xinjiang populations is associated with HLA-DQB1＊ 05 allele gene,which in the Han Chinese MG group is associated with DQB1＊ 04： 01： 01. While those patients are absence of the DQB1＊ 06： 02 and DQB1＊ 02： 01： 01,which might play a protective role in Xinjiang populations.