Gong Jing, Jiang Shu-Jun, Wang Ding-Kun, Dong Hui, Chen Guang, Fang Ke, Cui Jin-Rui, Lu Fu-Er
Institute of Integrated Traditional Chinese and Western Medicine, Huazhong University of Science and Technology, Wuhan, 430030, China.
Department of Nursing Care, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
J Huazhong Univ Sci Technolog Med Sci. 2016 Aug;36(4):473-479. doi: 10.1007/s11596-016-1611-x. Epub 2016 Jul 28.
The polymorphisms of thyroid stimulating hormone receptor (TSHR) intron 1 rs179247 and rs12101255 have been found to be associated with Graves' disease (GD) in genetic studies. In the present study, we conducted a meta-analysis to examine this association. Two reviewers systematically searched eligible studies in PubMed, Web of Science, Embase and China Biomedical Literature Database (CBM). A meta-analysis on the association between GD and TSHR intron 1 rs179247 or rs12101255 was performed. The odd ratios (OR) were estimated with 95% confidence interval (CI). Meta package in R was used for the analyses. Seven articles (13 studies) published between 2009 and 2014, involving 5754 GD patients and 5768 controls, were analyzed. The polymorphism of rs179247 was found to be associated with an increased GD risk in the allele analysis (A vs. G: OR=1.40, 95% CI=1.33-1.48) and all genetic models (AA vs. GG: OR=1.94, 95% CI=1.73-2.19; AA+AG vs. GG: OR=1.57, 95% CI=1.41-1.74; AA vs. AG+GG: OR=1.54, 95% CI=1.43-1.66). The site rs12101255 also conferred a risk of GD in the allele analysis (T vs. C: OR=1.50, 95% CI=1.40-1.60) and all genetic models (TT vs. CC: OR=2.22, 95% CI=1.92-2.57; TT+TC vs. CC: OR=1.66, 95% CI=1.50-1.83; TT vs. TC+CC: OR=1.74, 95% CI=1.53-1.98). Analysis of the relationship between rs179247 and Graves' ophthalmopathy (GO) showed no statistically significant correlation (A vs. G: OR=1.02, 95% CI=0.97-1.07). Publication bias was not significant. In conclusion, GD is associated with polymorphisms of TSHR intron 1 rs179247 and rs12101255. There is no association between rs179247 SNPs and GO.
在基因研究中，已发现促甲状腺激素受体（TSHR）内含子1的rs179247和rs12101255多态性与格雷夫斯病（GD）相关。在本研究中，我们进行了一项荟萃分析以检验这种关联。两名评审员系统检索了PubMed、Web of Science、Embase和中国生物医学文献数据库（CBM）中的符合条件的研究。对GD与TSHR内含子1的rs179247或rs12101255之间的关联进行了荟萃分析。用95%置信区间（CI）估计比值比（OR）。使用R语言中的Meta包进行分析。分析了2009年至2014年发表的7篇文章（13项研究），涉及5754例GD患者和5768例对照。在等位基因分析中发现rs179247多态性与GD风险增加相关（A对G：OR = 1.40，95% CI = 1.33 - 1.48）以及所有遗传模型（AA对GG：OR = 1.94，95% CI = 1.73 - 2.19；AA + AG对GG：OR = 1.57，95% CI = 1.41 - 1.74；AA对AG + GG：OR = 1.54，95% CI = 1.43 - 1.66）。位点rs12101255在等位基因分析中也赋予了GD风险（T对C：OR = 1.50，95% CI = 1.40 - 1.60）以及所有遗传模型（TT对CC：OR = 2.22，95% CI = 1.92 - 2.57；TT + TC对CC：OR = 1.66，95% CI = 1.50 - 1.83；TT对TC + CC：OR = 1.74，95% CI = 1.53 - 1.98）。rs179247与格雷夫斯眼病（GO）之间关系的分析显示无统计学显著相关性（A对G：OR = 1.02，95% CI = 0.97 - 1.07）。发表偏倚不显著。总之，GD与TSHR内含子1的rs179247和rs12101255多态性相关。rs179247单核苷酸多态性与GO之间无关联。
