甲状腺球蛋白基因多态性与甲状腺球蛋白抗体的相关性

Association of thyroglobulin gene polymorphisms with thyroglobulin autoantibody in patients with autoimmune thyroid disease

分析陕西地区汉族自身免疫性甲状腺疾病（AITD）患者体内甲状腺球蛋白（Tg）外显子10、12及33的单核苷酸多态性与甲状腺球蛋白抗体（TgAb）产生的相关性.对222例AITD患者依据TgAb滴度进行分组,采用PCR-RFLP方法 检测甲状腺球蛋白基因外显子10、12和33的单核苷酸多态性,并对其进行单体型分析.4个位点的等位基因及基因型在TgAb阳性组和TgAb阴性组两组分布频率差异无统计学意义;但单体型分析结果提示：在TgAb阳性组中,单体型G-C-A-C所占频率明显增高（P=0.028,OR=3.34）,而单体型G-C-G-C的频率明显降低（P=0.048,OR=0.62）,提示单体型G-C-A-C增多与单体型 G-C-G-C 的减少可能与AITD患者体内TgAb的产生有关.甲状腺球蛋白的基因多态性可能是导致TgAb产生的重要机制之一.

To identify association between the presence of previously reported four single nucleotide polymorphisms（SNPs） at exon 10, 12 and 33 of thyroglobulin（Tg） gene with autoimmune thyroid disease（AITD） patients whose TgAb is positive. In this case-control association study, the Tg gene polymorphisms at exon 10, 12, and 33 were determined by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）method in 222 patients with AITD. According to the titers of the Tg autoantibodies（TgAb） in serum, they were divided into two subgroups： TgAb positive group and TgAb negtive group. And a haplotype case-control analysis was also done in two groups.The difference of their frequencies was analyzed by Chi-square test. No differences in alleles and genotypes frequencies were observed in all patients whose TgAb iseither positive or negative（P〉0.05）. But there was a significant association of G-C-A-C haplotype with the patients whose TgAb was positive（P=0.028,OR=3.34）. There is association of thyroglobulin gene polymorphisms with TgAb in patients with AITD.