内蒙地区汉族AITD与VitD受体基因多态性相关性分析

目的：探讨VitD受体（VDR）基因BsmI位点多态性与自身免疫性甲状腺疾病（AITD）的关系。方法：运用聚合酶链式反应-限制性片段长度多态性分析（PCR-RFLP）技术检测120例Graves’病（GD）患者,115例桥本氏甲状腺炎（HT）患者,80例甲状腺相关性眼病（TAO）患者及120例正常对照组的VDR-BsmI位点基因型,分析比较各组间等位基因及基因型分布频率差异。结果：①GD组的VDR-BsmI基因型及等位基因频率显著高于正常对照组,差异存在统计学意义（均P〈0.05）;HT组、TAO组与正常对照组间无显著差异（均P〉0.05）。②女性GD患者VDR-BsmI基因型及等位基因频率显著高于正常对照组,差异存在统计学意义（均P〈0.05）,男性GD组与正常对照组间均无显著性差异（P〉0.05）。③GD组不同基因型间的年龄、血清FT3、FT4、TT3、TT4、TSH、TGA、TPO-Ab水平均无显著差异（均P〉0.05）。结论：VDR-BsmI基因可能与GD尤其是女性GD患者发病相关而与HT发病无关,＂B＂等位基因是GD发病的易感因素。VDR-BsmI基因型的变化不影响GD患者的发病年龄、血清FT3、FT4、TT3、TT4、TSH、TGA、TPO-Ab的水平。

Association of Vitamin D Receptor Gene-Bsm I Polymorphism with Autoimmune Thyroid Disease in Innermongolia People of the Han Nationality

Objective To investigate the association of vitamin D receptor（VDR） gene-bsmI polymorphism with autoimmune thyroid disease（AITD）.Methods VDR gene polymorphism at position-bsmI was determined with PCR-RFLP in 120 patients with GD,115 patients with HT,80 patients with TAO and 120 controls.Results ① The distribution of BB＋Bb genotype and allele B frequencies in GD group were significantly higher than those in control group（P0.05）.Allele B and genotype frequencies of VDR-BsmI in patients with TAO,HT were hot significantly different from those in controls（P0.05）.② The distribution of BB＋Bb genotype and allele B frequencies in female GD group were significantly higher than those in controls group（P0.05）,No significant difference was found in male GD patients（P0.05）.③ Age serum levels of FT3,FT4,TT3,TT4,TSH,TGA,TPO are not significantly different in different genotypes of GD.Conclusion VDR-BsmI polymorphism may be associated with GD especially in female patients,but no associations with HT or TAO was found.Allele B may confer genetic susceptibility to GD.VDR-BsmI genotype changes are not associated with changes of Age,serum levels of FT3,FT4,TT3,TT4,TSH,TGA,TPO-Ab in GD patients.