抗原处理相关运载体等位基因与1型糖尿病及自身抗体的相关性研究

目的　探讨抗原处理相关运载体 (TAP)等位基因与 1型糖尿病 (DM 1)及胰岛素自身抗体 (IAA)、胰岛细胞抗体 (ICA)和谷氨酸脱羧酶抗体 (GADA)的相关性。方法　用PCR -SSO技术 ,对 5 2例DM 1患者及 61例正常对照人群进行TAP1、TAP2等位基因变异位点氨基酸表型频率分析。用ELISA法测定DM 1患者血清中IAA、ICA、GADA。结果　DM 1患者的TAP13 3 3位Ile/Ile、63 7位Asp/Asp、TAP2 3 79位Val/Val纯合子表型频率显著低于对照 (P<0 .0 0 5 ) ,具有上述纯合子表型的患者中ICA阳性率显著低于阴性率 (P <0 .0 5 )。TAP13 3 3位Ile/Val、63 7位Asp/Gly、TAP2 3 79位于Ile/Val杂合子表型频率明显高于对照 (P <0 .0 0 5 ) ,具有上述杂合子表型的患者中ICA阳性率显著高于阴性率 (P <0 .0 5 )。等位基因为TAP2 3 79位点Ile/Val杂合子表型的患者中GADA阳性率显著高于阴性率 (P <0 .0 5 )。结论　TAP13 3 3位Ile/Ile、63 7位Asp/Asp、TAP2 3 79位Val/Val纯合子表型可能是DM 1的保护基因 ,并对ICA的产生起阻碍作用。TAP13 3 3位Ile/Val、63 7位Asp/Gly、TAP2 3 79位Ile/Val杂合子表型可能是DM 1的易感基因 ,并对ICA、GADA的产生可能起允许作用

Study on the association of transporter associated with antigen processing gene with type- 1 diabetes mellitus and autoantibodies

Objective To investigate the association of transporter associated with antigen processing (TAP) genes with type-1 diabetes mellitus(DM1) and autoantibodies.Methods The polymorphism of TAP genes was identified by PCR-SSO in 52 DM1 patients and 61 healthy controls.ELISA was performed for IAA,ICA and GADA,in 52 DM1 patients.Results compared with the controls,the DM1 patients had a higher frequency of TAP1-Iocus 333 Ile/Val( P <0.005),637 Asp/Gly( P <0.005),TAP2-locus 379 Ile/Val( P <0.005) and a lower frequency of TAPI-Iocus 333 Ile/Ile( P <0.005),637 Asp/Asp( P <0.005),TAP2-locus 379 Val/Val( P <0.005),the frequencies of other TAP Variant amino acids in the DM1 patients had no significant difference from those in the controlsp( P <0.005).In the DM1 patients with TAP1-Iocus 333 Ile/Val,637 Asp/Gly,the prevalence of ICA positivity was significantly higher than that of ICA negativity,opposite results in the DM1 patients with TAP1-Iocus 333 Ile/Ile.637 Asp/Asp.In the DM1 patients with TAP2-Iocus 379 Ile/Val,The prevalences of ICA and GADA positivity were significantly higher than those of ICA and GADA negativity.Conclusion The TAP1-Iocus 333 Ile/Val,637 Asp/Gly,TAP2-Iocus 379 Ile/Val are susceptible gene.The TAP1-Iocus 333 Ile/Ile,637 Asp/Asp,TAP2-Iocus 379 Val/Val are protective gene.The TAP susceptible gene of DM1 are consistent with the express of autoantibodies.