FcRL3基因启动子-169A/G多态性与Graves病的关联研究  

Association of FcRL3 gene promoter-169A/G polymorphism with Graves' disease

作　　者：郑瑞芝[1] 李蓉[1] 张素华[1] 汪志红[1] 汪茂荣[1] 梁松[1] 

机构地区：[1]重庆医科大学附属第一医院内分泌科,重庆400016

出　　处：《免疫学杂志》2008年第4期448-451,共4页Immunological Journal

基　　金：重庆市卫生局科学基金资助项目(04-2-111)

摘　　要：目的了解重庆地区汉族人群FcRL3基因启动子-169A/G的基因型分布;探讨该基因多态性与Graves病(GD)的相关性;探讨其基因型与甲状腺自身抗体、发病年龄、家族史和眼征的关系。方法采用PCR-DNA直接测序技术对128例GD患者,120例正常人FcRL3基因启动子-169A/G位点进行多态性研究,同时进行甲状腺功能和自身抗体的检测。结果GD组患者GG基因型和G等位基因频率明显高于对照组(分别为31.3%vs21.7%,P<0.05;54.7%vs43.3%,P<0.05)。甲状腺疾病家族史在GG、AG、AA三种基因型之间相比,其差异有统计学意义(P<0.05),甲状腺自身抗体、发病年龄和眼征在3种基因型之间相比,其差异均无统计学意义。结论FcRL3基因启动子-169GG基因型和G等位基因可能为重庆地区汉族人GD患者的易感基因,该位点多态性可能与甲状腺疾病家族史有关,而与自身抗体的产生、发病年龄和眼征无明显相关性。Objective To study the genotype distribution of FcRL3 promoter-169A/G polymorphism in Han population from Chongqing area, and to discuss its association with the TRAb, TgAb, TPOAb, age of onset, family history, and ophthalmic signs in Graves＇ disease （GD） patients. Methods Total of 128 GD patients and 120 control subjects were screened for the presence of the polymorphism by PCR-DNA direct sequencing. Meanwhile, the IRISH, F13, FF4, 333, TT4, TSH receptor antibody （TRAb）, TgAb, and TPOAb were measured. Results The GG gene type and G allele frequencies in GD patients were significantly higher than those of the controls （31.3 % vs 21.7 %, P 〈 0.05; 54.7% vs 43.3%, P 〈 0.05, respectively）. Family history among GG, AG, and AA genotypes showed significant difference （P= 0.034）, but TRAb, TgAb, TPOAb, age of onset, and ophthalmic signs show no significant difference. Conclusion FcRL3 gene promoter-169 GG genotype and G allele may be the susceptible gene of GD; the pelymorphism might be associated with family history but not with the production of TRAb, TgAb, TPOAb, the age of onset, and the ophthalmic signs in Han nationality of Chongqing.

关 键 词：GRAVES病 FcRL3 TSH受体抗体 单核苷酸多态性 

分 类 号：R581.1[医药卫生—内分泌]