Li Letai, Leng Jiajie, Xiong Haibing, Deng Zishan, Ye Meng, Wang Haiyan, Guo Xin, Zeng Shi, Xiong Haofeng, Huo Jianhong
The First Clinical College of Chongqing Medical University, Chongqing, China.
Department of Neurosurgery, Banan Hospital of Chongqing Medical University, Chongqing, China.
Brain Behav. 2024 Dec;14(12):e70188. doi: 10.1002/brb3.70188.
There is an association between thyroid dysfunction and cerebral infarction (CI), but the causality cannot be determined. A two-sample two-way Mendelian randomization (MR) study was conducted to assess the causal relationship between thyroid function and CI.
We selected single-nucleotide polymorphisms (SNPs) associated with five phenotypes, including CI from the UK Biobank (n = 361,194), hyperthyroidism from the IEU Open GWAS database (n = 484,598), hypothyroidism from the IEU Open GWAS database (n = 473,703), normal thyroid-stimulating hormone (TSH) (n = 271,040), and normal free thyroxine (FT4) (n = 119,120) from the Thyroidomics Consortium database. For the forward MR analysis, the exposures were hyperthyroidism, hypothyroidism, TSH, and FT4. The inverse variance weighted (IVW) method, weighted median (WM), and MR-Egger revealed the causality with CI. For the reverse MR analysis, CI was regarded as the exposure, and four thyroid function phenotypes were the outcomes. The sensitivity and heterogeneity test was assessed using Cochran's Q test, MR-Egger regression, and leave-one-out analysis.
The MR analysis indicated that genetic susceptibility to hyperthyroidism increased the risk of CI (IVW-OR = 1.070; 95% CI: 1.015-1.128; p = 0.003). In reverse MR, genetic susceptibility to RA is not associated with hyperthyroidism (IVW-OR = 1.001; 95% CI: 1.000-1.001; p = 0.144). Any positive or reverse causal relationship between hypothyroidism, FT4, and TSH with CI could not be established. Sensitivity and heterogeneity test consolidated our findings.
The causality between CI and hyperthyroidism demonstrated patients with hyperthyroidism have a risk of genetic variants for CI. In the future, further studies are needed to fully explore their mechanisms of action.
甲状腺功能障碍与脑梗死(CI)之间存在关联,但因果关系尚无法确定。本研究采用两样本双向孟德尔随机化(MR)方法评估甲状腺功能与CI之间的因果关系。
我们从英国生物银行(n = 361,194)中选择了与包括CI在内的五种表型相关的单核苷酸多态性(SNP),从IEU开放GWAS数据库中选择了与甲状腺功能亢进相关的SNP(n = 484,598),从IEU开放GWAS数据库中选择了与甲状腺功能减退相关的SNP(n = 473,703),从甲状腺组学联盟数据库中选择了甲状腺刺激激素(TSH)正常的SNP(n = 271,040)和游离甲状腺素(FT4)正常的SNP(n = 119,120)。在前瞻性MR分析中,暴露因素为甲状腺功能亢进、甲状腺功能减退、TSH和FT4。采用逆方差加权(IVW)法、加权中位数(WM)法和MR-Egger法揭示与CI的因果关系。在反向MR分析中,将CI视为暴露因素,将四种甲状腺功能表型视为结局。采用Cochran's Q检验、MR-Egger回归和留一法分析评估敏感性和异质性。
MR分析表明,甲状腺功能亢进的遗传易感性增加了CI的风险(IVW-OR = 1.070;95%CI:1.015-1.128;p = 0.003)。在反向MR分析中,类风湿性关节炎的遗传易感性与甲状腺功能亢进无关(IVW-OR = 1.001;95%CI:1.000-1.001;p = 0.144)。无法确定甲状腺功能减退、FT4和TSH与CI之间存在任何正向或反向因果关系。敏感性和异质性检验巩固了我们的研究结果。
CI与甲状腺功能亢进之间的因果关系表明,甲状腺功能亢进患者存在CI的遗传变异风险。未来,需要进一步研究以充分探索其作用机制。