TPO rs2071400位点基因多态性与自身免疫性甲状腺疾病的相关性研究n

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目的:探讨甲状腺过氧化物酶(thyroid peroxidase,TPO)基因rs2071400位点基因多态性与自身免疫性甲状腺疾病(autoimmune thyroid diseases,AITD)的关系。方法:对171例AITD患者和150例健康体检者的n TPO基因rs2071400位点的基因多态性进行分型检测。用基因计数法计算各组的基因和等位基因频率,采用卡方分析进行统计分析;对于血清硒水平、甲状腺功能和TPOAb血清水平,采用独立样本n t检验进行统计分析。n 结果:AITD患者中n TPO基因rs2071400位点CC基因型频率为38.60%(66/171),CT基因型为50.29%(86/171),TT基因型为11.11%(19/171);健康体检者中分布频率分别为42.00%(63/150)、50.67%(76/150)和7.33%(11/150),健康体检者与AITD患者之间n TPO基因rs2071400位点基因型分布频率差异无明显统计学意义(n P > 0.05),其频率分布符合Hardy-Weinberg遗传平衡定律。在未接受I131治疗的AITD患者中, n TPO基因rs2071400位点携带T等位基因(CT + TT基因型)患者的甲状腺功能指标(FT3、TT3、FT4、TT4和TPOAb)高于CC基因型患者,但差异无统计学意义。而在毒性弥漫性甲状腺肿患者(Graves disease,GD)亚组分析中发现,T等位基因的血清TPOAb水平(193.85±312) IU/mL显著高于CC基因型患者(82.71±148.46.43)IU/mL(n P = 0.03)。n 结论:中国汉族人群中基因rs2071400位点基因多态性可能与AITD的发生无明显相关性,该位点携带T基因型的GD患者TPOAb血清水平显著高于CC基因型患者,但该位点多态性改变是否可用于预测GD发生的风险,还需进一步的临床验证。“,”Objective:To investigate the relationship between the polymorphism of thyroid per-oxidase (TPO) gene rs2071400 and autoimmune thyroid disease (AITD) .Methods:We tested and anal-yzed the n TPO rs2071400 polymorphism in 171 patients with AITD and 150 healthy volunteers (control su-bjects) by use of Taqman probe PCR. We used the n χ2 test to evaluate the significance of the differences in the frequencies of genotypes and alleles among the groups. The individual sample n t test was used to analy-ze the differences in serum TPOAb titers. The data were analyzed with SPSS22 software. The probability values of 0.05) . Moreov-er, in the AITD patients who did not receive I131 treatment, the average levels of T carriers (CT + TT) bio-markers, such as free T3, total T3, free T4, total T4 and TPOAb, were higher than that of CC patients, but with no significance. However, in Grave’s disease (GD) patients, the serum TPOAb level (193.85±312 IU/mL) of T carriers was significantly higher than that of CC patients (82.71±148.46.43 IU/ml, n P = 0.03) .n Conclusion:The genot-ype of n TPO rs2071400 is not likely associated with AITD susceptibility in Chinese Han population, and the serum TPOAb level of T carriers in GD patients is significantly higher than that of CC patients, but it remains to evaluate the function of n TPO rs2071400 genotype in predicting the GD risk.n
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