TNFAIP3基因rs5029939位点与重症肌无力相关研究  

Correlation between rs5029939 Locus Polymorphism of TNFAIP3 Gene and Myasthenia Gravis

作　　者：李尧[1] 孙金梅[1] 陈彬[1] 姜彬[1] 王淑辉[1] 张拥波[1] LI Yao;SUN Jin-mei;CHEN Bin;JIANG Bin;WANG Shu-hui;ZHANG Yong-bo(Department of Neurology,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院神经科,北京100050

出　　处：《神经损伤与功能重建》2023年第4期205-207,共3页Neural Injury and Functional Reconstruction

基　　金：国家自然科学基金(No.81801334)。

摘　　要：目的:探讨肿瘤坏死因子ɑ诱导蛋白3(TNFAIP3)基因rs5029939位点多态性与重症肌无力(MG)的相关性。方法:98例中国北方成年MG患者(MG组)和87例健康对照(对照组)纳入研究。采用SNPscanTM多重SNP分型试剂盒检测MG组和对照组rs5029939基因位点的基因型,并进行组间和组内基因型的比较。结果:MG患者TNFAIP3基因rs5029939位点C/C、C/G、G/G基因型及等位基因G出现的频率与对照组比较差异无统计学差异(P>0.05)。将病例组按照性别、发病年龄、是否伴发胸腺瘤、抗AChR抗体是否阳性及临床分型进行亚组分析,结果显示抗乙酰胆碱受体抗体阴性患者rs5029939位点的G基因频率显著低于抗乙酰胆碱受体阳性患者(P=0.046,OR=0.328,95%CI 0.115-0.935),其余各亚组比较差异均无统计学意义(P>0.05)。结论:TNFAIP3基因rs5029939位点多态性与MG患者抗AChR抗体表达相关。Objective:To analyze the correlation between rs5029939 locus polymorphism of the tumor necrosis factor ɑ-induced protein 3(TNFAIP3)gene and myasthenia gravis(MG).Methods:Ninety-eight adult MG patients from northern China(MG group)and 87 healthy controls(control group)were recruited.The polymorphisms were determined by SNPscanTM technique,and results were compared between and within the two groups.Results:There was no statistical difference in the TNFAIP3 rs5029939 locus C/C,C/G,and G/G genotypes nor in frequency of the G allele between the MG group and control group(P>0.05).MG group patients were divided into subgroup according to gender,onset age,concurrent thymoma,anti-acetylcholine receptor(AChR)antibody,and clinical classification,and data analysis showed that the frequency of the G allele in patients negative for the anti-acetylcholine receptor was significant lower than that in patients positive for the antiacetylcholine receptor(P=0.046,OR=0.328,95%CI 0.115-0.935).Comparisons between all other subgroups revealed no significant difference(P>0.05).Conclusion:Our result indicate that rs5029939 polymorphism of the TNFAIP3 gene is associated with the expression of the anti-AChR antibody in MG patients.

关 键 词：重症肌无力 肿瘤坏死因子ɑ诱导蛋白3 单核苷酸多态性 

分 类 号：R741[医药卫生—神经病学与精神病学] R741.02[医药卫生—临床医学] R746