摘要
目的探讨Tg基因rs180195位点多态性与甲状腺自身免疫性抗体相关性。方法基于课题组既往自身免疫性甲状腺疾病病例对照目标区域二代测序得到的基因变异位点,此次选取代表性位点扩大样本量再验证。根据纳入排除标准选取AITD维吾尔族患者中自身抗体阳性者391例及对照组354例,使用Sequenom SNP检测平台(质谱法)确定代表性SNP位点rs180195的基因型,用SPSS 21.0软件进行相关性分析、连锁分析。结果 (1)Tg基因的rs180195位点抗体阳性组G等位基因频率较对照组高,GG基因型与GA基因型占比均比对照组高,但差异无统计学意义(P> 0.05)。分别以性别及不同年龄段分组,发现女性组、<45岁组,≥45岁组G等位基因频率较对照组高,GG基因型占比均比对照组高,但差异无统计学意义(P> 0.05)。(2)在总体研究对象中GG基因型受试者TgAb水平较其他基因型高,但差异无统计学意义(P> 0.05)。抗体阳性组受试者中,比较不同基因型间甲状腺功能异常率,发现GG基因型TSH异常率与FT4异常率较其他基因型高,但差异无统计学意义(P> 0.05)。结论 Tg基因的rs180195位点可能与甲状腺自身免疫性抗体及甲状腺功能相关性不明显,需扩大样本量进一步验证并深入探讨其机制。
Objective To investigate the relationship between rs180195 polymorphism of Tg gene and thyroid autoimmune antibody.Methods Based on the genetic variation sites obtained by the second-generation sequencing of the target control area of the previous autoimmune thyroid disease case control group, the representative sites were selected to expand the sample size for verification. According to the inclusion and exclusion criteria, 391 AITD Uyghur patients with positive autoantibodies and 354 control groups were selected. The Sequenom SNP detection platform(mass spectrometry)was used to determine the genotype of the representative SNP locus rs180195, and the correlation analysis and chain analysis was performed using SPSS 21.0. Results(1)The frequency of G allele in rs180195 of Tg gene in antibody positive group was higher than that in control group, and the proportion of GG genotype and GA genotype were higher than that in control group, but the difference was not statistically significant(P > 0.05). All cases were grouped by gender and ages, it was found that the frequency of G alleles in the female group, <45 years old group, ≥45 years old group were higher than those in the control group, and the proportion of GG genotypes was higher than that in the control group, but the difference was not statistically significant(P > 0.05).(2)Tg Ab level of GG genotype subjects were higher than that of other genotypes in the overall study subjects, but the difference was not statistically significant(P > 0.05). In the antibody-positive group, the abnormal thyroid function rate among different genotypes was compared, and it was found that the abnormal rate of GG genotype TSH and FT4 were higher than that in other genotypes, but the difference was not statistically significant(P > 0.05). Conclusion The rs180195 locus of the Tg gene may not be significantly correlated with thyroid autoimmune antibodies and thyroid function. The sample size needs to be expanded to further verify and further explore its mechanism.
作者
热那姑丽·艾克拜尔
王新玲
迪丽达尔·依马木
古再丽努尔·居来提
杜丹阳
董玲玲
郭艳英
Renaguli Aikebaier;WANG Xin-ling;Dilidaer Yimamu;Guzailinuer Julaiti;DU Dan-yang;DONG Ling-ling;GUO Yan-ying(Department of endocrinology,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi,830001,China)
出处
《新疆医学》
2020年第8期763-767,共5页
Xinjiang Medical Journal
基金
国家自然科学基金(项目编号:81860148)
新疆维吾尔自治区自然科学基金(项目编号:2017D01C105)。
