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目的:探讨细胞毒性T淋巴细胞相关抗原4（CTLA4）基因rs231775位点多态性与新疆维吾尔族自身免疫性甲状腺疾病（AITD）的相关性。方法:选择2017年1月至2018年12月于新疆维吾尔自治区人民医院确诊AITD的维吾尔族患者382例为病例组[包括桥本甲状腺炎（HT）患者328例、Graves病（GD）患者54例]，并以同期的维吾尔族健康体检者383例为对照组。提取研究对象全血基因组DNA，采用Sequenom-质谱分析平台确定CTLA4基因单核苷酸多态性（SNP）位点rs231775的基因分型并进行遗传模型分析，比较不同遗传模型下rs231775位点多态性与AITD的相关性；logistic回归模型分析AITD发病的影响因素；比较不同基因型人群的甲状腺功能指标。结果:病例组和对照组CTLA4基因rs231775位点等位基因（A：41.88%、49.35%，G：58.12%、50.65%）、基因型频率（AA：17.80%、23.24%，AG：48.17%、52.22%，GG：34.03%、24.54%）比较，差异有统计学意义（χn 2=8.586、9.260，n P均< 0.05）；HT组rs231775位点基因型频率和GD组rs231775位点等位基因、基因型频率与对照组比较，差异有统计学意义（χn 2=5.997、11.130、10.210，n P均< 0.05）。CTLA4基因rs231775位点在加性和显性遗传模型下与AITD[比值比（n OR）= 0.67、0.55，0.63]、HT有相关性（n OR=0.69、0.62，0.67，n P均< 0.05），在加性、显性和隐性遗传模型下与GD有相关性（n OR=0.53、0.23，0.44，0.34，n P均< 0.05）。logistic回归分析结果显示，基因型、性别、年龄、促甲状腺激素（TSH）、游离甲状腺素（FTn 4）为AITD发病的独立影响因素（n P均< 0.05）。在所有研究对象中，CTLA4基因rs231775位点的隐性基因型（GG）人群较显性基因型（AA+AG）人群甲状腺球蛋白抗体（TgAb）水平更高（n P < 0.05）。n 结论:CTLA4基因rs231775位点多态性与新疆维吾尔族AITD显著相关，且该位点的GG基因型TgAb水平较其他基因型更高。“,”Objective:To explore the correlation between rs231775 polymorphism of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) gene and autoimmune thyroid disease (AITD) of Uygur in Xinjiang Uygur Autonomous Region.Methods:A total of 382 Uygur patients with AITD [including 328 Hashimoto's thyroiditis (HT) patients and 54 Graves' disease (GD) patients] diagnosed in the People's Hospital of Xinjiang Uygur Autonomous Region from January 2017 to December 2018 were selected as the case group, and 383 Uygur health physical examiners in the same period were selected as the control group. The whole blood genomic DNA of the study subjects was extracted, and the Sequenom-mass spectrometry analysis platform was used to determine the genotyping of CTLA4 gene single nucleotide polymorphism (SNP) locus rs231775 and analyze the genetic model, and the correlation between rs231775 polymorphism and AITD under different genetic models was compared. The logistic regression analysis model was used to analyze the influencing factors of AITD. And the thyroid function index of different genotype population was compared.Results:In the case group and the control group, the differences of CTLA4 gene rs231775 alleles (A: 41.88%, 49.35%; G: 58.12%, 50.65%) and genotype frequencies (AA: 17.80%, 23.24%; AG: 48.17%, 52.22%; GG: 34.03%, 24.54%) were statistically significant (χn 2=8.586, 9.260, n P < 0.05). Compared with the control group, the genotype frequency of rs231775 in HT group, the alleles and genotype frequencies of rs231775 in GD group were significantly different (χ n 2=5.997, 11.130, 10.210, n P < 0.05). Under the additive and dominant models, the CTLA4 gene rs231775 was correlated with AITD [odds ratio ( n OR)=0.67, 0.55, 0.63] and HT (n OR=0.69, 0.62, 0.67, n P < 0.05); and correlated with GD under the additive, dominant and recessive genetic models ( n OR=0.53, 0.23, 0.44, 0.34, n P < 0.05). The logistic regression analysis showed that genotype, gender, age, thyroid stimulating hormone (TSH) and free thyroxine (FT n 4) were independent influencing factors of AITD (n P < 0.05). Among all the subjects, the level of thyroglobulin antibody(TgAb) in the population with the recessive genotype (GG) at the rs231775 of the CTLA4 gene was higher than that in the dominant genotype (AA+AG) population ( n P < 0.05).n Conclusion:The CTLA4 gene rs231775 polymorphism is significantly related to AITD of Uygur in Xinjiang Uygur Autonomous Region, and the level of TgAb in GG genotype is higher than that in other genotypes.