文章摘要
李尧，孙金梅，陈彬，姜彬，王淑辉，张拥波.TNFAIP3基因rs5029939位点与重症肌无力相关研究[J].神经损伤功能重建,2023,(4):205-207
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 Gra⁃vis
  
DOI：
中文关键词: 重症肌无力  肿瘤坏死因子ɑ诱导蛋白3  单核苷酸多态性
英文关键词: myasthenia gravis  tumor necrosis factor ɑ induced protein 3  single nucleotide polymorphism
基金项目:国家自然科学基金 （No. 81801334）
作者单位
李尧，孙金梅，陈彬，姜彬，王淑辉，张拥波 首都医科大学附属 北京友谊医院神经 科 
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中文摘要:
      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。
英文摘要:
      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 anti-acetylcholine 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.
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