基因 rs1990760、rs3747517 和 rs10930046 多态性与自身免疫性疾病易感性的关联：荟萃分析。
Association of the rs1990760, rs3747517, and rs10930046 polymorphisms in the gene with susceptibility to autoimmune diseases: a meta-analysis.
机构信息
National Clinical Research Center for Metabolic Diseases, Key Laboratory of Diabetes Immunology (Central South University), Ministry of Education, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, Hunan, China.
出版信息
Front Immunol. 2023 Jun 23;14:1051247. doi: 10.3389/fimmu.2023.1051247. eCollection 2023.
OBJECTIVE
Interferon induced with helicase C domain 1 () single-nucleotide polymorphisms (SNP) rs1990760, rs3747517, and rs10930046 have been shown to be closely related to the risk of autoimmune diseases. The aim of this study was firstly to examine the association of the rs1990760 with type 1 diabetes (T1D) in a Chinese population. Secondly, to assess the association of SNP rs1990760, rs3747517, and rs10930046 with autoimmune diseases susceptibility.
METHODS
A total of 1,273 T1D patients and 1,010 healthy control subjects in a Chinese population were enrolled in this case-control study. Subsequently, we performed a meta-analysis on the association of the SNP rs1990760, rs3747517, and rs10930046 in the IFIH1 gene with susceptibility to autoimmune diseases. The random and fixed genetic effects models were used to evaluate the association and the effect sizes, including odds ratios (OR) and 95% confidence intervals (CI). Stratification analyses based on ethnicity and the type of autoimmune diseases were performed.
RESULTS
SNP rs1990760 was not associated with a significant risk of T1D in the Chinese population in the case-control study. A total of 35 studies including 70,966 patients and 124,509 controls were identified and included in the meta-analysis. The results displayed significant associations between rs1990760 A allele and rs3747517 C allele and autoimmune diseases risk (OR=1.09, 95% CI: 1.011.17; OR=1.24, 95% CI: 1.151.25, respectively). Stratified analysis indicated a significant association rs1990760 and rs3747517 with autoimmune diseases risk in the Caucasian population (OR=1.11, 95% CI: 1.021.20, OR=1.29, 95% CI: 1.181.41, respectively).
CONCLUSIONS
This study revealed no association between SNP rs1990760 and T1D in Chinese. Furthermore, the meta-analysis indicated that rs1990760 and rs3747517 polymorphisms, confer susceptibility to autoimmune diseases, especially in the Caucasian population.
目的
已证实解旋酶 C 结构域 1（）单核苷酸多态性（SNP）rs1990760、rs3747517 和 rs10930046 与自身免疫性疾病的风险密切相关。本研究的目的首先是在中国人中研究 rs1990760 与 1 型糖尿病（T1D）的关联。其次，评估 SNP rs1990760、rs3747517 和 rs10930046 与自身免疫性疾病易感性的关联。
方法
这项病例对照研究共纳入了 1273 例 T1D 患者和 1010 名健康对照者。随后，我们对 IFIH1 基因中 SNP rs1990760、rs3747517 和 rs10930046 与自身免疫性疾病易感性的关联进行了荟萃分析。采用随机和固定遗传效应模型评估关联和效应大小，包括比值比（OR）和 95%置信区间（CI）。基于种族和自身免疫性疾病类型进行分层分析。
结果
病例对照研究中，SNP rs1990760 与 T1D 无显著相关性。共纳入 35 项研究，包括 70966 例患者和 124509 例对照者，进行了荟萃分析。结果显示，rs1990760A 等位基因和 rs3747517C 等位基因与自身免疫性疾病风险之间存在显著关联（OR=1.09，95%CI：1.011.17；OR=1.24，95%CI：1.151.25）。分层分析表明，rs1990760 和 rs3747517 与高加索人群的自身免疫性疾病风险之间存在显著关联（OR=1.11，95%CI：1.021.20；OR=1.29，95%CI：1.181.41）。
结论
本研究未发现 SNP rs1990760 与中国人群 T1D 之间存在关联。此外，荟萃分析表明，rs1990760 和 rs3747517 多态性与自身免疫性疾病易感性相关，尤其是在高加索人群中。
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