细胞毒T淋巴细胞抗原4基因Ala 17 Thr变异与上海地区自身免疫性甲状腺病的相关性  

Association of Ala17Thr variant in cytotoxic T lymphocyte antigen gene 4 inautoimmune thyroid disease among Chi-nese residents

作　　者：石毅[1] 项坤三[1] 丁虹[1] 翁青[1] 李杰[1] 

机构地区：[1]上海市糖尿病研究所

出　　处：《上海医学》2003年第1期28-30,共3页Shanghai Medical Journal

摘　　要：目的　探讨细胞毒T淋巴细胞抗原 4 (CTLA 4 )基因Ala 17Thr变异与上海地区自身免疫性甲状腺病的关系。方法　收集自身免疫性甲状腺病 (AITD)患者 14 3例 ,其中甲状腺素受体抗体 (TRAb)阳性者 4 9例 ,TRAb阴性但甲状腺球蛋白抗体 (TgAb)、甲状腺微粒体抗体 (TMAb)、甲状腺过氧化物酶抗体 (TpoAb)中至少有一项阳性者 94例 ;14 8名健康人为对照组 ;两组所有入选者均为无亲缘关系的上海地区汉族人。采用PCR RFLP法检测CTLA 4基因Ala 17Thr变异 (第 4 9位核苷酸G→A变异 )。结果　中国人 (A 0 .33,G 0 .6 7)与白种人CTLA 4基因 4 9(A/G)等位基因频率分布的差异有显著性 (P <0 .0 0 0 1)。AITD亚组间基因型及等位基因频率分布的差异有显著性 (P均 <0 .0 1) ,TgAb及TMAb抗体 (+)亚组AA基因型频率显著高于抗体 (- )亚组(P <0 .0 1)。结论　CTLA 4基因AlaObjective To investigate the Ala17Thr variant in cytotoxic T lymphocyte antigen gene 4(CTLA 4) and its association with AITD among chinese residents. Methods By means of PCR RFLP assay,the Ala17Thr variant in the blood CTLA 4 gene were genotyped in 291 unrelated chinese residents,including 143 patients with AITD and 148 normal individuals,the former group was further subdivided into two subgroups:49 subjects with positive TRAb and 94 subjects with negative TRAb but positive for at least one of the thyroid antibodies,i.e. TgAb,MCAb or TpoAb. Results Significant difference ( P <0.0001)of allele frequencies of 49(A/G) in CTLA 4 gene was observed between chinese and white people (in Chinese,A 0.33 and G 0.67), in the frequencies of genotype and allele between subgroups of AITD .There was also significant difference ( P <0.01),patients positive for TgAb or MCAb had higher frequency of AA genotype than those negative ones( P <0.05). Conclusion Ala17Thr variant in CTLA 4 gene may contaibute to the production of certain thyroid antibodies.

关 键 词：细胞毒T淋巴细胞抗原4 基因变异 自身免疫病 甲状腺疾病 

分 类 号：R581[医药卫生—内分泌]