Department of Urology, The First Affiliated Hospital of Bengbu Medical College, Bengbu, Anhui, China.
Department of Urology, The First Affiliated Hospital of Bengbu Medical College, Bengbu, Anhui, China.
J Autoimmun. 2024 Jun;146:103231. doi: 10.1016/j.jaut.2024.103231. Epub 2024 Apr 30.
To investigate the association between autoimmune diseases (AIDs) and bladder cancer (BC) at the genetic level using Mendelian randomization (MR).
Single nucleotide polymorphisms (SNPs) associated with the seven AIDs were extracted from the IEU GWAS database, and the SNPs were quality-controlled using strict screening criteria. The association between AIDs and BC risk was assessed by inverse-variance weighted (IVW), MR-Egger regression and Weighted median method. The heterogeneity of SNPs was evaluated by Cochran Q test. MR-Egger intercept test and MR-PRESSO global test were used to test the horizontal pleiotropy of SNPs. Both sides with potential causal associations were validated using the validation set.
Our result showed that genetically predicted RA was significantly associated with an increased risk of BC (IVW OR = 1.214, 95 % CI = 1.062-1.388, P = 0.005). MS nominally increased the risk of BC (IVW OR = 1.095, 95 % CI = 1.005-1.193, P = 0.037), consistent with the results of the MR analysis of the BC validation cohort. However SLE, T1D, UC, CD, and MG were not causally associated with BC risk (P > 0.05). The sensitivity analyses showed that there was no heterogeneity or horizontal pleiotropy in our findings.
This study provides evidence of a causal relationship between AIDs and BC risk at the genetic level, confirming a causal relationship between RA and MS in increasing the risk of BC.
利用孟德尔随机化(MR)方法在遗传水平上研究自身免疫性疾病(AIDs)与膀胱癌(BC)之间的关联。
从 IEU GWAS 数据库中提取与七种 AIDs 相关的单核苷酸多态性(SNPs),并使用严格的筛选标准对 SNPs 进行质量控制。通过逆方差加权(IVW)、MR-Egger 回归和加权中位数法评估 AIDs 与 BC 风险之间的关联。使用 Cochran Q 检验评估 SNPs 的异质性。使用 MR-Egger 截距检验和 MR-PRESSO 全局检验检验 SNPs 的水平异质性。使用验证集验证具有潜在因果关联的双侧 SNP。
我们的结果表明,遗传预测的 RA 与 BC 风险增加显著相关(IVW OR=1.214,95%CI=1.062-1.388,P=0.005)。MS 名义上增加了 BC 的风险(IVW OR=1.095,95%CI=1.005-1.193,P=0.037),与 BC 验证队列的 MR 分析结果一致。然而,SLE、T1D、UC、CD 和 MG 与 BC 风险无因果关系(P>0.05)。敏感性分析表明,我们的研究结果无异质性或水平异质性。
本研究在遗传水平上为 AIDs 与 BC 风险之间存在因果关系提供了证据,证实了 RA 和 MS 在增加 BC 风险方面存在因果关系。