CD40-1C/T多态性（rs1883832）与粤西汉族人Graves病的关系  

Relationship between CD40-1C/T polymorphism（rs1883832） and Graves＇ disease of Han population in western region of Guangdong province

作　　者：陈晓铭[1] 胡卓清 李潍[1] 刘美莲[1] 吴美芬[1] 方烁[1] 武革[1] 

机构地区：[1]广东医学院附属医院内分泌科,湛江524001

出　　处：《国际内分泌代谢杂志》2015年第1期11-15,共5页International Journal of Endocrinology and Metabolism

基　　金：广东省社会发展领域科技计划项目（20128031800489）;广东省医学科研基金立项课题（A2013432）;湛江市非资助科技攻关计划项目（2013801030）

摘　　要：目的 探讨CD40基因单核苷酸多态性（rs1883832）与粤西汉族人群Graves病的关系.方法 选取Graves病患者219例（Graves病组）和健康体检人员200例（对照组）.收集相关资料,检测甲状腺激素（游离T3、游离T4）、促甲状腺激素（TSH）及促甲状腺激素受体抗体（TRAb）水平.应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对样本基因分型.分析基因多态性与Graves病遗传易感性、家族史、眼病和预后的关系,及TRAb水平在不同基因型携带者之间的差异.结果 （1）Graves病组等位基因C分布频率高于对照组（56.8％ vs.47.3％,χ2=7.722,P=0.005）;共性及隐性遗传模型均显示Graves病组CC基因型高于对照组（38.4％vs.25.5％,χ2=8.054,P共性=0.018;χ2=7.912,P隐性=0.005）;相对于等位基因T携带者,CC基因型增加Graves病发病风险[CC vs.TT：优势比（OR）=1.89,CC vs.CT：OR=1.77,CC vs.CT＋ TT：OR=1.83）.（2）等位基因与基因型分布频率在有/无家族史、伴/不伴眼病及初发/复发亚组中差异均无统计学意义（P均＞0.05）.（3）在Graves病组中,C等位基因携带者TRAb水平较TT基因型者高[（18.23 ±0.96）vs.（12.65±1.68） IU/L,F=4.576,P=0.002].结论 CD40-1C/T多态性（rs1883832）可能与粤西汉族人群Graves病及TRAb水平相关,与甲状腺眼病、家族史及预后无关.Objective To investigate the association between the single nucleotide polymorphism （SNP,rs1883832） of CD40 gene and Graves＇disease（GD） of Han population in western Guangdong.Methods A set of subjects including 219 patients with GD （GD group） and 200 healthy controls（control group） were recruited.Related informations were collected,and levels of thyroid hormones （free T3,free T4）,thyroid stimulating hormone （TSH） and thyrotropin receptor antibodies （TRAb） were tested.SNPs were genotyped by the method of polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）.The association between polymorphism and the susceptibility of GD,family history,ophthalmopathy and prognosis of GD were analyzed.Meanwhile,the levels of TRAb among different genotypes were compared.Results （1） Higher allele C frequency was observed in GD group than control group（56.8% vs.47.3%,χ2 =7.722,P =0.005）.Compared with control group,additive and recessive genetic models showed the frequency of CC genotype were higher in GD group （38.4% vs.25.5%,χ2 =8.054,PAdditive =0.018 ;χ2 =7.912,PRessive =0.005）.Compared with patients carried allele T,GD risk of the individuals who carried CC genotype was significantly increased[CC vs.TT：odd ratio （OR） =1.89,CC vs.CT：OR =1.77,CC vs.CT ＋ TT：OR =1.83].（2） There was no significant difference in allele or genotype frequency of CD40 SNP between patients with and without GD family history,with and without ophthalmopathy,GD onset and relapse subgroup（all P 〉0.05）.（3）In GD group,the levels of TRAb were significant higher in those with CC or CT genotype than other genotype[（18.23 ±0.96） vs.（12.65 ± 1.68） IU/L,F=4.576,P=O.O02].Conclusion CD40-1C/T polymorphism（rs1883832） is associated with GD and TRAb level of Han population in western Guangdong.No correlation is found between CD40-1C/T polymorphism and ophthalmopathy,family history and prognosis of GD.

关 键 词：GRAVES病 CD40 基因多态性 

分 类 号：R581.1[医药卫生—内分泌]