Wu Song, Shen Meihong, Wang Huiyan, Zhou Wenbo
Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, 213000, China.
Cell Mol Neurobiol. 2025 Jun 19;45(1):61. doi: 10.1007/s10571-025-01581-x.
Postpartum depression (PPD) remains a complex disorder with poorly understood genetic underpinnings. This study systematically evaluated the genetic susceptibility of PPD and identified potential therapeutic targets using Mendelian Randomization (MR) approach. Using a two-sample MR approach, the study assessed the causal effects of expression quantitative trait loci (eQTLs) of druggable genes in blood on PPD, which was sourced from the FinnGen. The primary analytical method was the inverse variance weighted, supplemented by a series sensitivity analyses. Summary-data-based Mendelian Randomization (SMR) analysis was used to validate the identified genes, and Bayesian colocalization analysis evaluated shared causal variants and colocalization probabilities between significant targets and PPD. A Phenome-Wide Association Study (PheWAS) was conducted to assess the associations of established PPD markers with other traits to exclude potential side effects. The results showed that the eQTLs of 12 druggable genes were significantly associated with PPD susceptibility. Seven genes were identified as risk factors, and the expression levels of five genes significantly reduced PPD susceptibility. Colocalization analysis supported the hypothesis that PPD may be associated with shared causal variants of ALDH16A1 (OR = 1.09, 95% CI 1.05-1.13, PP.H4 = 0.78) and SLC29A4 (OR = 1.36, 95% CI 1.23-1.50, PP.H4 = 0.76). The PheWAS did not indicate potential side effects for these two therapeutic targets. This study identified new genetic susceptibilities and potential therapeutic targets associated with PPD, providing novel insights for clinical diagnosis and treatment, and offering new research directions for understanding the molecular mechanisms of PPD.
产后抑郁症(PPD)仍然是一种复杂的疾病,其遗传基础尚不清楚。本研究系统评估了PPD的遗传易感性,并使用孟德尔随机化(MR)方法确定了潜在的治疗靶点。该研究采用两样本MR方法,评估了血液中可药物化基因的表达定量性状位点(eQTL)对PPD的因果效应,数据来源于芬兰基因库(FinnGen)。主要分析方法是逆方差加权法,并辅以一系列敏感性分析。基于汇总数据的孟德尔随机化(SMR)分析用于验证所鉴定的基因,贝叶斯共定位分析评估了显著靶点与PPD之间共享的因果变异和共定位概率。进行了全表型关联研究(PheWAS),以评估已确定的PPD标志物与其他性状的关联,以排除潜在的副作用。结果表明,12个可药物化基因的eQTL与PPD易感性显著相关。七个基因被确定为危险因素,五个基因的表达水平显著降低了PPD易感性。共定位分析支持了PPD可能与ALDH16A1(OR = 1.09,95% CI 1.05 - 1.13,PP.H4 = 0.78)和SLC29A4(OR = 1.36,95% CI 1.23 - 1.50,PP.H4 = 0.76)的共享因果变异相关的假设。PheWAS未表明这两个治疗靶点存在潜在副作用。本研究确定了与PPD相关的新的遗传易感性和潜在治疗靶点,为临床诊断和治疗提供了新见解,并为理解PPD的分子机制提供了新的研究方向。