2q33区基因多态性与Graves病发病风险的研究

Association between 2q33 gene polymorphism and Graves＆#39; disease

目的 观察2q33区rs1024161（C./T）,rs231726（C/T）和rs10197319（G/A）位点基因多态性与Graves病发病及甲状腺自身抗体间的关系.方法 收集Graves病患者600例及686名正常对照者.采集病史,包括年龄、症状、甲状腺肿、突眼,测定甲状腺激素及甲状腺自身抗体[促甲状腺激素受体抗体（TRAb）、甲状腺过氧化物酶抗体（TPOAb）].同时留取血标本,抽提DNA,用TagMan-MGB探针法进行基因分型.再分析不同基因型与甲状腺自身抗体（TRAb,TPOAb）的水平,及其与Graves病发病风险的关系.结果 Graves病患者rs1024161和rs231726的TT基因型频率（53.67％ vs.43.44％,P=0.003和46.67％ vs.38.05％,P=0.002）,rs10197319的GG基因型频率（60.17％vs.54.08％,P=0.028）均高于对照者.rs1024161（C/T）,rs231726（C/T）和rs10197319（G/A）位点基因多态性与性别、TRAb和TPOAb水平无明显相关性.结论 rs1024161,rs231726和rs10197319位点基因多态性与Graves病的发病相关,2q33为Graves病的易感区段.

Objective Tostudytheassociationofthers1024161（C/T）,rs231726（C/T）andrs10197319 （G/A） gene polymorphism with Graves＆#39;disease（GD）.Methods Patients with GD （n =600） and normal control subjects （n =686） were enrolled.History,including age,signs,thyromegaly,and exophthalmos were collected.Meanwhile,the levels of thyrotropin receptor antibody （TRAb） and thyroid peroxidase antibody （TPOAb） were tested.Blood samples were collected to extract DNA,and the genotypes were determined by TagMan-MGB probe.The relationship between different genotypes and the levels of thyroid autoimmune antibodies （TRAb,TPOAb）,and the risk of GD were analyzed.Results The frequencies of genotype TT of rs 1024161,rs231726 （53.67% vs.43.44%,P =0.003 ;46.67% vs.38.05%,P =0.002） and genotype GG of rs10197319 （60.17% vs.54.08%,P =0.028） in patients with GD were higher than those in control subjects.There was no association between the rs1024161 （C/T）,rs231726（C/T） and rs10197319（G/A） polymorphism with gender,TRAb and TPOAb levels.Conclusion Rs1024161,rs231726 and rs10197319 polymorphism might have association with GD,and 2q33 region is a susceptible loci of GD.