重庆地区FcγRⅡB基因多态性与Graves病的相关性研究

Studies on the correlation between FcγRⅡB gene polymorphism and Graves' disease in Chongqing area

目的了解重庆地区汉族人群FcγRⅡB基因多态性位点rs17416919(703A>T,204Tyr>Phe)的基因型分布,探讨该基因多态性与Graves病(GD)的相关性以及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。方法选取重庆地区562例GD患者列入病例组,以260例正常人作为对照。采用聚合酶链反应-限制片段长度多态性分析方法(PCR-RFLP),对FcγRⅡB基因外显子4区单核苷酸多态性(SNP)位点rs17416919(703A>T,204Tyr>Phe)进行基因分型,对受试者进行甲状腺功能和自身抗体的检测。对rs17416919位点不同基因型与GD及其发病年龄、甲状腺自身抗体、家族史、甲状腺肿和突眼体征进行相关性分析。结果FcγRⅡB多态性位点rs17416919的三种基因型TT、AT、AA频率在病例组分别为0.7%、22.1%、77.2%,在对照组分别为0.4%、20.4%、79.2%,经非条件Logistic回归校正年龄和性别因素后计算,在共显性、显性和隐性3种模式下比较,两组差异均无统计学意义(P>0.05)。病例组和对照组等位基因频率分布差异亦无统计学意义(χ2=0.480,P>0.05)。除甲状腺疾病家族史(χ2=5.349,P<0.05)外,余甲状腺自身抗体、发病年龄和眼征在TT+AT和TT基因型之间相比,其差异均无统计学意义(P>0.05)。结论重庆地区汉族人群FcγRⅡB基因多态性位点rs17416919(703A>T,204Tyr>Phe)与GD遗传易感性无相关性。

Objective To investigate the genotype polymorphism of FcγRⅡB rs17416919 （703A〉T, 204Tyr〉Phe） in Han population in Chongqing area, and discuss the correlation between FcγRⅡB gene polymorphism and the TRAb, TgAb, TPOAb, age of onset, family history, goiter and ophthalmic signs in patients with Graves＇ disease （GD）. Methods Five hundred and sixty-two patients with GD （case group） and two hundred and sixty normal subjects （control group） in Chongqing area were enrolled in the present study. All subjects were genotyped for a single nucleotide polymorphism （SNP） rs17416919 （703A〉T, 204Tyr〉Phe） located in the exon-4 region of FcγRⅡB using PCR-RFLP. uTSH, FT3, FT4 and/or TT3, TT4, TSH receptor antibody （TRAb）, thyroglobulin antibody （TgAb） and thyroid peroxidase antibody （TPOAb） were measured. The relationship between the SNP of rs17416919 and GD and TRAb, TgAb, TPOAb, age of onset, family history, goiter and ophthalmic signs in GD patients were analyzed. Results The frequencies of TT, AT and AA genotypes in case group were 0. 7%, 22. 1% and 77. 2%, respectively, and 0. 4%, 20. 4% and 79. 2% in control group, respectively. No significant differences existed between case group and control group under additive, dominant and recessive model after adjustment of age and sex factors by the non-conditional logistic regression analysis （P〉0. 05）. And no significant difference was found in allele frequencies between the subjects in the both groups （χ^2 =0. 480, P〉0. 05）. With exception of family history （χ^2 =5. 349, P〈0. 05）, no significant differences were found in TRAb, TgAb and TPOAb, age of onset, goiter and ophthalmic signs between TT＋AT and AA genotypes of patients in case group. Condusion There is no correlation between FcγRⅡB rs17416919 （703A〉T, 204Tyr〉Phe） polymorphism and GD in Han population of Chongqing area.