Dalian Medical University, Dalian, China.
Department of Rheumatology, Affiliated Hospital of Nantong University, Nantong, China.
Arch Dermatol Res. 2024 Aug 22;316(8):553. doi: 10.1007/s00403-024-03248-x.
Prior evidence suggests that altered energy metabolism plays a crucial role in the development of fibrotic diseases. Recent research indicates that systemic sclerosis (SSc) patients have potentially benefited from energy management, implying that basal metabolic rate (BMR), a vital energy metabolic parameter, may be related to SSc. However, the causal effect of BMR on SSc remains unknown. Thus, we aimed to elucidate the causal links between BMR and SSc. Based on summary statistics from the genome-wide association studies (GWAS) database, two-sample Mendelian randomization (MR) was applied to explore causality between BMR and SSc. The causal relationships were assessed employing inverse variance weighted (IVW), MR-Egger, and weighted median (WM) methods. Meanwhile, several sensitivity analyses were carried out to ensure the robustness of the findings. There was an underlying genetic association of BMR on SSc (OR = 0.505, 95% CI: 0.272-0.936, P = 0.030). Moreover, no significant causal effect between SSc and BMR was observed in the reverse MR analysis (OR = 0.999, 95% CI: 0.997-1.001, P = 0.292). According to the sensitivity analysis, the presence of heterogeneity and genetic pleiotropy was not detected. Our findings, derived from a genetic perspective, provide robust evidence of a causal connection between BMR and SSc. To verify these results and clarify the potential mechanisms, further research is warranted.
先前的证据表明,能量代谢的改变在纤维化疾病的发展中起着至关重要的作用。最近的研究表明,系统性硬化症(SSc)患者可能从能量管理中受益,这意味着基础代谢率(BMR)这一重要的能量代谢参数可能与 SSc 有关。然而,BMR 对 SSc 的因果效应尚不清楚。因此,我们旨在阐明 BMR 与 SSc 之间的因果关系。基于全基因组关联研究(GWAS)数据库的汇总统计数据,我们应用两样本 Mendelian 随机化(MR)来探索 BMR 与 SSc 之间的因果关系。采用逆方差加权(IVW)、MR-Egger 和加权中位数(WM)方法评估因果关系。同时,进行了几项敏感性分析以确保研究结果的稳健性。BMR 与 SSc 之间存在潜在的遗传关联(OR=0.505,95%CI:0.272-0.936,P=0.030)。此外,在反向 MR 分析中,SSc 与 BMR 之间没有观察到显著的因果关系(OR=0.999,95%CI:0.997-1.001,P=0.292)。根据敏感性分析,未检测到异质性和遗传多效性的存在。我们从遗传角度得出的这些发现为 BMR 与 SSc 之间存在因果关系提供了有力的证据。为了验证这些结果并阐明潜在的机制,需要进一步的研究。