Genetic Susceptibility to Adult Cerebral Venous Thrombosis: An Updated Meta-Analysis of Candidate Gene Studies.

We conducted an updated meta-analysisto quantify associations between specific genetic variants and adult CVT.

我们进行了一项最新的荟萃分析，以量化特定遗传变异与成人CVT之间的关联。

Methods

We systematically searched PubMed, EMBASE, and Web of Science up to January 2025 for case-control studies comparing the prevalenceof genetic variants in adults with CVT versus healthy controls.

我们系统地检索了PubMed、EMBASE和Web of Science，直到2025年1月，以寻找比较成人与健康对照组中遗传变异患病率的病例对照研究。

Pooled odds ratios (ORs) with 95% CIs were calculated using random-effects models in this meta-analysis.

在这项荟萃分析中，使用随机效应模型计算了合并后的比值比（ORs）及其95%置信区间（CIs）。

Results

Sixty-one studies comprising 4106 patients with CVT and 12 323 controls were analyzed.

分析了61项研究，包括4106名CVT患者和12323名对照组。

Significant associations were identified for germline variants, including factor V Leiden (238/2753 [8.6%] versus 387/8747 [4.4%]; OR, 2.59 [95% CI, 2.06-3.26]; P<0.00001), prothrombin G20210A (290/2483 [11.7%] versus 235/8197 [2.9%]; OR, 6.05 [95% CI, 4.59-7.98]; P<0.00001), and inherited deficiencies of protein C (24/624 [3.8%] versus 7/2027 [0.3%]; OR, 10.30 [95% CI, 4.19-25.30]; P<0.00001), protein S (9/567 [1.6%] versus 1/1125 [0.1%]; OR, 6.86 [95% CI, 2.12-22.24]; P=0.001), and antithrombin (11/440 [2.5%] versus 3/989 [0.3%]; OR, 5.73 [95% CI, 1.98-16.55]; P=0.001).

对于遗传变异，包括因子V Leiden (238/2753 [8.6%] 对比 387/8747 [4.4%]; OR, 2.59 [95% 置信区间, 2.06-3.26]; P<0.00001), 凝血酶原G20210A (290/2483 [11.7%] 对比 235/8197 [2.9%]; OR, 6.05 [95% 置信区间, 4.59-7.98]; P<0.00001), 以及蛋白C (24/624 [3.8%] 对比 7/2027 [0.3%]; OR, 10.30 [95% 置信区间, 4.19-25.30]; P<0.00001), 蛋白S (9/567 [1.6%] 对比 1/1125 [0.1%]; OR, 6.86 [95% 置信区间, 2.12-22.24]; P=0.001), 和抗凝血酶 (11/440 [2.5%] 对比 3/989 [0.3%]; OR, 5.73 [95% 置信区间, 1.98-16.55]; P=0.001) 的显著关联被识别。

The somatic JAK-2 (Janus kinase-2) V617F mutation was likewise associated with increased risk (27/569 [4.7%] versus 13/1777 [0.7%]; OR, 9.17 [95% CI, 3.61-23.27]; P<0.00001).

体细胞JAK-2（Janus激酶-2）V617F突变同样与增加的风险相关（27/569 [4.7%] 对比 13/1777 [0.7%]; OR, 9.17 [95% 置信区间, 3.61-23.27]; P<0.00001）。

By contrast, MTHFR (methylenetetrahydrofolate reductase) C677T and PAI-1 (plasminogen activator inhibitor-1) 4G/5G polymorphisms showed no significant associations.

相比之下，MTHFR（亚甲基四氢叶酸还原酶）C677T和PAI-1（纤溶酶原激活物抑制剂-1）4G/5G多态性未显示出显著的相关性。

Overall effect sizes were comparable to those reported in pediatric CVT but exceeded those in adult arterial ischemic stroke.

总体效应大小与儿童CVT报告的相当，但超过了成人动脉缺血性中风的研究。

Conclusions

These findings support a genetic basis for adult CVT.

这些发现支持成人CVT具有遗传基础的观点。

Risk associations are broadly similar to pediatric CVT yet stronger than those reported for adult arterial ischemic stroke, highlighting distinct patterns of genetic susceptibility in venous stroke and the potential value of selective genetic testing for risk stratification and management.

风险关联与儿童CVT大致相似，但比成人动脉缺血性中风报告的关联更强，突显了静脉中风遗传易感性的独特模式，以及选择性遗传检测在风险分层和管理中的潜在价值。