转化生长因子-β1＋869T/C基因的多态性与自身免疫性甲状腺疾病的关系  

Association of transforming growth factor-β1 gene ＋869T/C polymorphism with autoimmune thyroid disease

作　　者：李俊峰[1] 魏枫[2] 张永红[2] 闫斌[2] 王艳良[2] 赵彦飞[2] 封凯[2] 陈涛[2] 王家宏[2] 

机构地区：[1]天津市第一中心医院内分泌科,300193 [2]内蒙古科技大学包头医学院第一附属医院内分泌科

出　　处：《中国地方病学杂志》2011年第6期623-626,共4页Chinese Jouranl of Endemiology

基　　金：内蒙古自然科学基金（2009MS153）

摘　　要：目的观察转化生长因子β1（TGF-β1）＋869T／C基因多态性与自身免疫性甲状腺疾病疾病严重程度的关系。方法重型桥本甲状腺炎患者158例，轻型桥本患者125例；重型Graves病患者129例，轻型Graves病患者130例；健康对照组144例。人组患者及健康对照均选自包头医学院第一附属医院就诊患者及体检健康人群，取肘静脉血，采用序列特异性引物聚合酶链反应（PCR—sequence specific primers．PCR—SSP）方法检测血中TGF-β1＋869T／C基因多态性。结果在桥本甲状腺炎组、Graves病组，TGF-β1＋869T／C基因型、等位基因频率分布变化不明显，与对照组比较差异无统计学意义（χ^2值分别为1．488、0．439，0．626、0．005；P均〉0．05）。重型桥本甲状腺Tr基因型及T等位基因频率[34．81％（55／158）、58．86％（186／316）]显著高于轻症病例组[17．60％（22／125）、43．60％（109／250）]，组间比较差异有统计学意义（χ^2值分别为14．040、13．026，P均〈0．05）。重型Graves病CC基因型及C等位基因频率[（21．03％（31／129）、51．16％（132／258）]显著高于轻症病例组[（13．85％（18／130）、40．38％（105／260）]，组间比较差异有统计学意义（×。值分别为12．225、6．061，P均〈0．05）。TGF-β1＋869T／C基因型与桥本甲状腺炎、Graves病组中重型病例存在相关性，C等位基因会增加Graves病的疾病严重程度[比值比（OR）=1．546，95％可信区间（CI）=0．192～2．190]，而T等位基因则会使桥本甲状腺炎加重（OR=1．851，95％CI=1．323～2．589）。结论TGF-β1＋869T／C基因多态性与重度自身免疫性甲状腺病存在相关性．Objective To clarify whether the ＋869T/C polymorphism in the transforming growth factor-β1 （TGF-β1） gene is associated with TGF-β1 expression, and involved in the severity of Graves disease（GD） and Hashimoto＇s thyroiditis（HT）. Methods The TGF-β1＋869T/C polymorphism was genotyped by using PCR- sequence specific primers（PCR-SSP） in genomic DNA samples in blood from 158 patients with HT who developed hypothyroidism before they were 45 years old （severe HT） and 125 untreated, euthyroid patients with HT who were older than 45（mild HT）. Using the same method, 129 euthyroid patients with GD who had been under treatment and were still positive for anti-thyrotropin receptor antibodies（intractable GD） and 130 euthyroid patients with GD in remission and 144 healthy controls were examined. Results It had no difference between GD, HT groups and control group （χ^2= 1.488, 0.439; 0.626, 0.005; all P 〉 0.05）. The frequency of the TT genotype and the T allele were higher in group with severe HT[34.81%（55/158）, 58.86%（186/316）] than in those with mild HT[17.60% （22/125）,43.60% （109/250）; X2 = 14.040, 13.026, all P 〈 0.05]. In contrast, the frequency of the CC genotype was higher in group with intractable GD[ （21.03%（31/129）, 51.16%（132/258）] than in group with GD in remission[13.85% （18/130）, 40.38%（105/260）; χ^2 = 12.225, 6.061, all P 〈 0.05]. TGF-β1＋869 T/C genotype had the correlation with severe groups of lit and GD. C allele would increase in severity of GD（OR = 1.546, 95% CI= 0.192 - 2.190）, and T allele would increase in severity of HT（OR = 1.851, 95% CI = 1.323 - 2.589）. Conclusion The ＋869T/C polymorphism in the TGF-β1 gene is associated with the severity and intractability of autoimmune thyroid disease.

关 键 词：甲状腺疾病 转化生长因子Β1 多因子遗传 等位基因 基因频率 

分 类 号：R581[医药卫生—内分泌]