Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, and Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the People's Republic of China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, and MRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Bristol, UK.
MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Arthritis Rheumatol. 2023 Oct;75(10):1781-1792. doi: 10.1002/art.42538. Epub 2023 Aug 3.
In this study, we aimed to establish the causal effects of lowering sclerostin, target of the antiosteoporosis drug romosozumab, on atherosclerosis and its risk factors.
A genome-wide association study meta-analysis was performed of circulating sclerostin levels in 33,961 European individuals. Mendelian randomization (MR) was used to predict the causal effects of sclerostin lowering on 15 atherosclerosis-related diseases and risk factors.
We found that 18 conditionally independent variants were associated with circulating sclerostin. Of these, 1 cis signal in SOST and 3 trans signals in B4GALNT3, RIN3, and SERPINA1 regions showed directionally opposite signals for sclerostin levels and estimated bone mineral density. Variants with these 4 regions were selected as genetic instruments. MR using 5 correlated cis-SNPs suggested that lower sclerostin increased the risk of type 2 diabetes mellitus (DM) (odds ratio [OR] 1.32 [95% confidence interval (95% CI) 1.03-1.69]) and myocardial infarction (MI) (OR 1.35 [95% CI 1.01-1.79]); sclerostin lowering was also suggested to increase the extent of coronary artery calcification (CAC) (β = 0.24 [95% CI 0.02-0.45]). MR using both cis and trans instruments suggested that lower sclerostin increased hypertension risk (OR 1.09 [95% CI 1.04-1.15]), but otherwise had attenuated effects.
This study provides genetic evidence to suggest that lower levels of sclerostin may increase the risk of hypertension, type 2 DM, MI, and the extent of CAC. Taken together, these findings underscore the requirement for strategies to mitigate potential adverse effects of romosozumab treatment on atherosclerosis and its related risk factors.
本研究旨在确定降低抗骨质疏松药物罗莫佐单抗的作用靶点骨硬化蛋白(sclerostin)对动脉粥样硬化及其危险因素的因果效应。
对 33961 名欧洲个体的循环骨硬化蛋白水平进行了全基因组关联研究荟萃分析。采用孟德尔随机化(MR)预测骨硬化蛋白降低对 15 种动脉粥样硬化相关疾病和危险因素的因果效应。
我们发现,18 个条件独立的变异与循环骨硬化蛋白相关。其中,SOST 中的 1 个顺式信号和 B4GALNT3、RIN3 和 SERPINA1 区域中的 3 个跨式信号显示了骨硬化蛋白水平和估计骨密度的方向相反的信号。选择这些 4 个区域的变异作为遗传工具。使用 5 个相关顺式 SNP 的 MR 表明,较低的骨硬化蛋白增加了 2 型糖尿病(DM)的风险(比值比 [OR] 1.32 [95%置信区间 95%CI 1.03-1.69])和心肌梗死(MI)(OR 1.35 [95%CI 1.01-1.79]);骨硬化蛋白降低也被认为会增加冠状动脉钙化(CAC)的程度(β=0.24 [95%CI 0.02-0.45])。同时使用顺式和跨式工具的 MR 表明,较低的骨硬化蛋白增加了高血压风险(OR 1.09 [95%CI 1.04-1.15]),但其他方面的影响较弱。
本研究提供了遗传证据,表明较低的骨硬化蛋白水平可能会增加高血压、2 型糖尿病、MI 和 CAC 程度的风险。综上所述,这些发现强调了需要采取策略来减轻罗莫佐umab 治疗对动脉粥样硬化及其相关危险因素的潜在不良影响。