中国华东地区多发性肌炎/皮肌炎患者肿瘤坏死因子-α基因多态性研究

目的 研究中国华东地区中多发性肌炎/皮肌炎(PM/DM)患者肿瘤坏死因子(TNF)-α基因多态性.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)测定69例PM/DM患者与57名健康对照TNF-α基因启动子区-238、-308、-1031位点的基因型,比较各位点的基因型、等位基因及单倍体型频率在2组中差异有无统计学意义.2组比较采用x2或者Fisher exact检验.结果 -238、-308、-1031位点基因型及等位基因频率在PM/DM组或DM组与健康对照组之间比较差异无统计学意义.单倍体型AGT在PM/DM组和DM组中的频率都为0,在健康对照组中的频率为5.6%,差异具有统计学意义(P值分别为0.01,0.02).单倍体型AGC在PM/DM组中的频率为4.3%,在DM组中的频率为5.80%,在健康对照组中的频率为0.6%,DM组与对照组相比,差异具有统计学意义(P=0.04,0R=9.84,95%CI 1.39～69.57),PM/DM组与对照组相比,差异无统计学意义(P=0.09,OR=7.22,95%CI 1.02～50.90).单倍体型GGC在PM/DM组中的频率为14.6%,在DM组中的频率为12.3%,在健康对照组中的频率为23.5%,DM组与健康对照组相比,差异有统计学意义(P=0.04,OR=0.47,95%CI 0.23～0.99).结论 TNF-α基因-238、-308、-1031位点单倍体型AGC是DM的易感因素.

The study of tumor necrosis factor-alpla single nucleotide polymorphism in Chinese Han patients with polymyositis/dermatomyositis

Objective To investigate the tumor necrosis factor alpha gene single nucleotide polymorphism (SNP) in Chinese Han polymyositis/dennatomyositis (PM/DM) patients. Methods A casecontrol study of three TNF-α SNPs were undertaken and comparison between cases of PM/DM (n=69) and DM patients ( n=52 ) with normal subjects ( n=57 ) was performed. The genotype of every subject was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results There was no significant difference in the genotypes and alleles frequencies of the three TNF-α SNPs(-238,-308, and -1031)between PM/DM or DM and normal subjects. The haplotype AGT (-238, -308, -1031 ) significantly increased in controls vs PM/DM and DM (PM/DM, P=0.01; DM, P=0.02) subjects. The haplotype AGC was a significant risk factor for DM (P=0.04, 0R=9.84, 95%CI 1.39～69.57 ). The haplotype AGC increased in PM/DM (4.3%)vs controls(0.6% ), but the difference was not significant (P=0.09, OR 7.22, 95%CI 1.02～50.90). The haplotype GGC was significantly decreased in the DM subgroup vs healthy control subjects (P=0.04, OR=0.47,95%CI 0.23～0.99). Conclusion The TNF gene (-238,-308,-1031) haplotype AGC is a risk factor for DM.