Wang Xiao, Memon Ashfaque A, Palmér Karolina, Svensson Peter J, Sundquist Jan, Sundquist Kristina
Center for Primary Health Care Research, Lund University, Malmö, Sweden.
Department of Coagulation Disorders, Lund University Hospital, Malmö, Sweden.
Semin Thromb Hemost. 2021 Sep;47(6):662-668. doi: 10.1055/s-0040-1722271. Epub 2020 Dec 30.
Alterations in DNA methylation patterns have been associated with many diseases. However, the role of DNA methylation in venous thromboembolism (VTE) is not well established. The aim of this study was to investigate a possible association between global DNA methylation and VTE. The study participants consisted of 168 individuals including 74 patients with primary VTE from the Malmö Thrombophilia Study (MATS) and 94 healthy controls. Among 74 primary VTE patients, 37 suffered VTE recurrence during the follow-up period; 37 nonrecurrent VTE patients were included for comparison. Blood-based global DNA methylation was assessed by an enzyme-linked immunosorbent assay. Global DNA methylation was significantly higher in primary VTE patients compared with the healthy controls (median: 0.17 vs. 0.08%; < 0.001). After stratification of data from primary VTE patients according to sex, the association between higher global DNA methylation and shorter recurrence-free survival time was of borderline statistical significance in males ( = -0.2; = 0.052) but not in females ( = 0.02; = 0.90). Our results show that global DNA methylation is associated with primary VTE and that higher levels of global DNA methylation may be associated with early VTE recurrence in males but not in females. Further investigation on the role of DNA methylation as a diagnostic or preventive biomarker in VTE is warranted.
DNA甲基化模式的改变与许多疾病有关。然而，DNA甲基化在静脉血栓栓塞症（VTE）中的作用尚未明确。本研究的目的是调查整体DNA甲基化与VTE之间可能存在的关联。研究参与者包括168名个体，其中有来自马尔默血栓形成倾向研究（MATS）的74例原发性VTE患者和94名健康对照者。在74例原发性VTE患者中，37例在随访期间出现VTE复发；纳入37例未复发的VTE患者作为对照。采用酶联免疫吸附测定法评估基于血液的整体DNA甲基化。原发性VTE患者的整体DNA甲基化水平显著高于健康对照者（中位数：0.17%对0.08%；<0.001）。根据性别对原发性VTE患者的数据进行分层后，整体DNA甲基化水平较高与男性无复发生存时间较短之间的关联具有临界统计学意义（=-0.2；=0.052），而在女性中无此关联（=0.02；=0.90）。我们的结果表明，整体DNA甲基化与原发性VTE相关，并且较高水平的整体DNA甲基化可能与男性早期VTE复发有关，而与女性无关。有必要进一步研究DNA甲基化作为VTE诊断或预防生物标志物的作用。
