摘要
目的:探讨CD40基因5'非翻译区(5'untranslated region,5'UTR)_1位点C/T单核苷酸多态性与山东青岛地区汉族人群Graves病(Graves disease,GD)及药物治疗停药后复发的相关性。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定198例GD患者(其中GD初发组80例,GD早期复发组84例,GD晚期复发组34例)和110例正常对照者CD40基因5'UTR_1位点的基因型,并计算其基因型及等位基因频率。结果:①CD40基因5'UTR_1位点的基因型及等位基因频率在GD组和正常对照组中的分布有显著性差异(χ2=23.133,P=0.000;χ2=13.372,P=0.000),GD组CC基因型频率明显高于正常对照组(23.7%vs11.8%),TT基因型频率明显低于正常对照组(7.6%vs26.4%),GD组C等位基因频率明显高于正常对照组(58.1%vs42.7%);②CD40基因5'UTR_1位点的基因型频率在GD初发组与GD复发组的分布有显著性差异(χ2=7.926,P=0.019);GD复发组TT基因型频率明显低于GD初发组(3.4%vs13.8%),但C等位基因频率在两组间的分布无显著性差异(χ2=0.665,P=0.415);③CD40基因5'UTR_1位点的基因型频率在GD早期复发组与晚期复发组的分布有显著性差异(χ2=11.278,P=0.004),早期复发组CC基因型频率明显高于晚期复发组(26.2%vs14.7%),但C等位基因频率在两组间的分布无显著性差异(χ2=2.272,P=0.099)。结论:CD40基因5'UTR_1位点的C等位基因多态性可能与山东青岛地区汉族人群GD的发病及药物治疗停药后的复发相关。
To investigate the relationship between the C/T polymorphism in the CD40 gene position_1 site and the relapse of Grave＇s disease （GD） after antithyroid withdrawal in Han population from Qingdao Shandong, we analyzed 198 patients （including 80 GD initial onset patients, 84 early relapse and 34 late relapse patients, and 110 healthy controls） by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） for the genotype and allele frequencies. Significant differences were observed in CD40 gene between GD and control group （χ^2= 23.133, P = 0.000; χ^2= 13.372, P = 0.000）. The CC genotype frequency was significantly higher in GD group than that in control （23.7% vs 11.8%）; the TT genotype frequency was significantly lower in GD group than that in control （7.6% vs 26.4%）; the C allele frequency was significantly higher in GD group than that in control （58.1% vs 42.7%）. As for the gene frequency, significant differences were observed in CD40 genotype frequencies between GD onset and relapse group （χ^2= 7.926, P = 0.019）. The TT genotype frequency was significantly lower in GD relapse group than that in onset （3.4% vs 13.8%）. But the significant differences in allele frequencies were not observed （χ^2= 0.665, P = 0.415）. Significant differences were also observed in CD40 gene genotype frequencies between GD early relapse and late relapse group （χ^2= 11.278, P = 0.004）. However, the significant differences in allele frequencies were not observed （χ^2= 2.272, P = 0.099）. All these results indicate that the polymorphism of C allele in CD40 gene position _1 site is associated with the susceptibility to the development and relapse of GD in Han population of Qingdao Shandong.
出处
《免疫学杂志》
CAS
CSCD
北大核心
2010年第6期517-520,526,共5页
Immunological Journal
