抗原肽运载体基因多态性与Graves病关联性的初步探讨

目的　探讨抗原肽运载体 (TAP)基因在华南地区一组汉族人中的分布及其与Graves病的关联性。方法　采用扩增阻滞突变体系 (ARMS)检测TAP1及TAP2基因各多态性位点在 67例Graves病患者及 69例正常对照组中的分布。结果　TAP基因各多态性位点在本组华南地区健康汉族人中的分布与国内外其他组资料基本一致 ,但存在一定程度的差异 ,提示TAP1及TAP2基因可能有民族、地区分布的差异。TAP1基因的单倍体型TAP1D在正常人群中的分布频率显著高于Graves病组(RR =0 1 7,P <0 0 1 ) ,TAP1C在正常人群中的分布频率显著低于Graves病组 (RR =2 0 5 ,P <0 0 5) ;而TAP2基因的单倍体型TAP2A在正常人群中的分布频率显著高于Graves病组 (RR =0 46 ,P <0 0 5) ,TAP2F在正常人群中的分布频率显著低于Graves病组 (RR =9 95 ,P <0 0 5)。结论　TAP1D及TAP2A与Graves病的保护性相关 ,可能是Graves病的保护基因 ;TAP1C及TAP2F与Graves病的易感性相关 ,可能是Graves病的易感基因

Antigen transporter gene polymorphism and predisposition to Graves disease: a preliminary analysis

Objective To examine the distribution of transporter associated with antigen processing (TAP) gene polymorphism in a southern Chinese population and the association between TAP gene polymorphism and predisposition to Graves disease Methods We have performed TAP genotyping in 67 Graves disease patients and 69 healthy controls by amplification refractory mutation system (ARMS) Results Distribution of TAP genes in our healthy controls shows similar but some different findings as compared with studies in other countries and other regions of our country, suggesting that the distribution of TAP genes might have ethnic or regional differences The frequency of TAP1D haplotypes was significantly higher in the healthy controls than in the Graves disease patients ( RR =0 17, P <0 01), and the frequency of TAP1C haplotypes was significantly lower in the healthy controls than in the Graves disease patients( RR =2 05, P <0 05) The frequency of TAP2A haplotypes was significantly higher in the healthy controls than in the Graves disease patients ( RR =0 46, P <0 05), and the frequency of TAP2F haplotypes was significantly lower in the healthy controls than in the Graves disease patients ( RR =9 95, P <0 05) Conclusion TAP1D and TAP2A haplotypes might confer protection against Graves disease while TAP1C and TAP2F haplotypes might confer cause susceptibility to Graves disease