Løchen Arnesen Carl Arne, Evensen Line H, Hveem Kristian, Gabrielsen Maiken E, Hansen John-Bjarne, Brækkan Sigrid K
Thrombosis Research Group, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway.
Thrombosis Research Center, Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.
Res Pract Thromb Haemost. 2024 Feb 8;8(2):102343. doi: 10.1016/j.rpth.2024.102343. eCollection 2024 Feb.
Data on the proportion of venous thromboembolism (VTE) risk attributed to prothrombotic genotypes in men and women are limited.
We aimed to estimate the population attributable fraction (PAF) of VTE for recognized, common prothrombotic genotypes in men and women using a population-based case cohort.
Cases with incident VTE ( = 1493) and a randomly sampled subcohort ( = 13,069) were derived from the Tromsø study (1994-2012) and the Trøndelag Health Study (1995-2008) cohorts. DNA samples were genotyped for 17 single-nucleotide polymorphisms (SNPs) previously associated with VTE. PAFs with 95% bias-corrected CIs (based on 10,000 bootstrap samples) were estimated for SNPs significantly associated with VTE, and a 6-SNP cumulative model was constructed for both sexes.
In women, the individual PAFs for SNPs included in the cumulative model were 16.9% for (rs8176719), 17.6% for (rs2036914), 15.1% for (rs2289252), 8.7% for (rs6025), 6.0% for (rs2066865), and 0.2% for (rs1799963). The cumulative PAF for this 6-SNP model was 37.8%. In men, the individual PAFs for SNPs included in the cumulative model were 21.3% for , 12.2% for (rs2036914), 10.4% for (rs2289252), 7.5% for , 7.8% for , and 1.1% for . This resulted in a cumulative PAF in men of 51.9%.
Our findings in a Norwegian population suggest that 52% and 38% of the VTEs can be attributed to known prothrombotic genotypes in men and women, respectively.
关于男性和女性中因血栓形成前基因型导致静脉血栓栓塞（VTE）风险的比例的数据有限。
我们旨在使用基于人群的病例队列估计男性和女性中已识别的常见血栓形成前基因型的VTE人群归因分数（PAF）。
VTE新发病例（n = 1493）和随机抽样的亚队列（n = 13,069）来自特罗姆瑟研究（1994 - 2012年）和特伦德拉格健康研究（1995 - 2008年）队列。对17种先前与VTE相关的单核苷酸多态性（SNP）进行DNA样本基因分型。对与VTE显著相关的SNP估计其带有95%偏差校正CI（基于10,000次自抽样）的PAF，并为两性构建了一个6-SNP累积模型。
在女性中，累积模型中包含的SNP的个体PAF分别为：F5（rs8176719）为16.9%，PROCR（rs2036914）为17.6%，PLG（rs2289252）为15.1%，FV（rs6025）为8.7%，PAI1（rs2066865）为6.0%，和SERPINC1（rs1799963）为0.2%。这个6-SNP模型的累积PAF为37.8%。在男性中，累积模型中包含的SNP的个体PAF分别为：F5为21.3%，PROCR（rs2036914）为12.2%，PLG（rs2289252）为10.4%，FV为7.5%，PAI1为7.8%，和SERPINC1为1.1%。这导致男性的累积PAF为51.9%。
我们在挪威人群中的研究结果表明，男性和女性中分别有52%和38%的VTE可归因于已知的血栓形成前基因型。
