大多功能蛋白酶2基因Arg60His变异与上海地区自身免疫性甲状腺病的相关性  

Large multifunctional proteasome 2 gene Arg60His variant in autoimmune thyroid disease in Shanghai Chinese

作　　者：丁虹[1] 石毅[1] 项坤三[1] 翁青[1] 李杰[1] 

机构地区：[1]上海市第六人民医院内分泌代谢科,200233

出　　处：《中华内科杂志》2002年第7期465-467,共3页Chinese Journal of Internal Medicine

摘　　要：目的　探讨大多功能蛋白酶 2 (LMP2 )基因Arg60His变异与上海地区中国人自身免疫性甲状腺病 (AITD)的关系。方法　运用限制性片段长度多态性PCR(PCR RFLP)技术在 367例无亲缘关系的上海地区中国人 [正常对照 1 62例 ;AITD者 2 0 5例 ,其中促甲状腺激素受体抗体 (TRAb)阳性者 78例 ,TRAb阴性但在甲状腺球蛋白抗体 (TGAb)、甲状腺微粒体抗体 (TMAb)或甲状腺过氧化物酶抗体(TPOAb)中至少有 1项阳性者 1 2 7例 ]中检测LMP2基因Arg60His变异。结果　上海地区汉族人 (R0 89,H 0 1 1 )与白种人 (R 0 2 9,H 0 71 )LMP2基因R/H 60等位基因频率分布有显著差异 (P =0 0 0 0 )。AITD中TRAb阳性亚组与正常对照组间基因型及等位基因分布频率均有显著差异 ,TRAb阳性亚组RH基因型和H等位基因频率显著高于正常对照组 (P值分别为 0 0 37,0 0 4 7)。AITD其他抗体阳性亚组与抗体阴性亚组间基因型及等位基因频率分布无显著差异。Objective To investigate the relationship between Arg60His variant in the large multifunctional proteasome 2(LMP2) gene and autoimmunune thyroid disease (AITD) in Shanghai Chinese Methods By means of PCR restriction fragment length polymorphisms(RFLP) assay, the genotypes of Arg60His variant in the LMP2 gene were determined in 367 unrelated Shanghai Chinese, including 205 patients with AITD and 162 normal control individuals The former group was further divided into two subgroups:78 subjects with positive thyrotrophin receptor antibody(TRAb) and 127 subjects with negative TRAb but positive either thyroglobulin antibody(TGAb),thyoid microsomal antibody(TMAb) or thyroid peroxidase antibody(TPOAb) Results Significant difference ( P =0 000)of allele frequencies of R/H 60 in the LMP2 gene was observed between Shanghai Chinese (R 0 89,H 0 11) and white Caucasians (R 0 29, H 0 71)and was also observed between TRAb positive subgroup in AITD and normal controls The frequencies of RH genotype and H allele in TRAb positive subgroup is significantly higher than those in normal controls( P =0 037,0 047,respectively) In AITD group, the genotype and allele frequencies of Arg60His variant in the LMP2 gene showed no significant difference between other antibody(+) subgroups and antibody(-) subgroups Conclusion Arg60His variant in the LMP2 gene may be associated with the pathogenesis of AITD in Shanghai Chinese

关 键 词：大多功能蛋白酶2基因 Arg60His变异 上海 自身免疫性甲状腺病 

分 类 号：R581[医药卫生—内分泌]