内蒙地区汉族AITD与VitD受体基因多态性相关性分析

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

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。

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.