Department of Hematology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, People's Republic of China.
Hematology. 2024 Dec;29(1):2433799. doi: 10.1080/16078454.2024.2433799. Epub 2024 Nov 27.
: The relationship between different types of autoimmune diseases and myelodysplastic syndrome (MDS) is inconclusive. Therefore, we employed Mendelian randomization (MR) to examine whether genetically predicted susceptibility to ten autoimmune diseases is associated with the risk of MDS. Single nucleotide polymorphisms (SNPs) significantly associated with 10 autoimmune diseases were extracted from the summary statistics of European genome-wide association studies (GWAS). A two-sample MR analysis was performed using summary-level statistics sourced from GWAS datasets. Inverse-variance weighting (IVW), MR-Egger, and weighted median (WM) were further supported by several sensitivity analyses. Four autoimmune diseases showed genetical predisposition to MDS: rheumatoid arthritis (OR = 1.186,95% CI = 1.028-1.367, = 0.019), multiple sclerosis (OR = 1.247, 95% CI = 1.013-1.534, = 0.037), myasthenia gravis (OR = 1.326,95% CI = 1.010-1.742, = 0.042), and Hashimoto thyroiditis(OR = 1.519,95% CI = 1.008-2.290, = 0.046). Nevertheless, no similar causal relationship was found between the remaining seven autoimmune diseases and MDS. The accuracy and robustness of these findings were confirmed by sensitivity tests. We are the first to use MR analysis to explore the relationship between autoimmune diseases and MDS. The mechanism needs to be further explored.
不同类型的自身免疫性疾病与骨髓增生异常综合征（MDS）之间的关系尚无定论。因此，我们采用孟德尔随机化（MR）方法，研究十种自身免疫性疾病的遗传易感性与 MDS 风险之间是否存在关联。从欧洲全基因组关联研究（GWAS）的汇总统计数据中提取与十种自身免疫性疾病显著相关的单核苷酸多态性（SNP）。使用来自 GWAS 数据集的汇总统计数据进行两样本 MR 分析。进一步通过几种敏感性分析来支持逆方差加权（IVW）、MR-Egger 和加权中位数（WM）。四种自身免疫性疾病与 MDS 存在遗传易感性：类风湿性关节炎（OR = 1.186，95%CI = 1.028-1.367， = 0.019）、多发性硬化症（OR = 1.247，95%CI = 1.013-1.534， = 0.037）、重症肌无力（OR = 1.326，95%CI = 1.010-1.742， = 0.042）和桥本甲状腺炎（OR = 1.519，95%CI = 1.008-2.290， = 0.046）。然而，其余七种自身免疫性疾病与 MDS 之间没有发现类似的因果关系。敏感性测试证实了这些发现的准确性和稳健性。我们是首次使用 MR 分析来探讨自身免疫性疾病与 MDS 之间的关系。其机制需要进一步探讨。
