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Background <p>While genome-wide association studies having implicated the <i>GP6</i> rs1613662 polymorphism as a risk factor for venous thrombosis, subsequent studies have reported inconsistent findings regarding this association.</p> Objectives <p>Here, we performed a case-control study in a Chinese cohort to evaluate the association between rs1613662 and venous thromboembolism (VTE) risk. We further conducted‌ a comprehensive cross-population assessment by integrating multi-ethnic data to assess this association.</p> Methods <p>We recruited 225 patients with VTE and 203 healthy controls for the Chinese case-control study, with rs1613662 genotyped using the Sequenom assay. Additionally, we systematically integrated genotyping data from nine cohorts (with a total of 5,669 VTE cases and 8,976 controls) for the cross-population analysis.</p> Results <p>Analysis of the Chinese cohort revealed no statistically significant association between rs1613662 and VTE susceptibility. However, the multi-ethnic meta-analysis revealed significant VTE risk associations for rs1613662 in both the additive (odds ratio [OR] = 1.14, 95% confidence interval [CI]:1.07–1.22, <i>P</i> = 0.00014) and dominant models (OR = 1.16, 95% CI:1.07–1.25, <i>P</i> = 0.00019), but not in the recessive model (OR = 1.22, 95% CI:0.96–1.52, <i>P</i> = 0.082). Sensitivity analysis via the sequential exclusion of individual studies demonstrated remarkable stability.</p> Conclusions <p>Our findings demonstrate that rs1613662 is associated with a modest but statistically significant increase in VTE susceptibility on average, with heterogeneous effect sizes across different populations. The observed ethnic heterogeneity suggests the necessity of additional investigation into population-specific genetic architectures. Integrated polygenic risk scores could be used to optimize risk stratification and develop preventive strategies against VTE.</p>

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GP6 polymorphisms and venous thromboembolism: a Chinese case-control study with cross-population assessment

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月7日

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  • Yingyun Fu,
  • Zixuan Hu,
  • Shengguo Liu,
  • Guoqiang Li,
  • Sujin Chen,
  • Haiping Liu,
  • Jie Li,
  • Yongjian Yue

摘要

Background

While genome-wide association studies having implicated the GP6 rs1613662 polymorphism as a risk factor for venous thrombosis, subsequent studies have reported inconsistent findings regarding this association.

Objectives

Here, we performed a case-control study in a Chinese cohort to evaluate the association between rs1613662 and venous thromboembolism (VTE) risk. We further conducted‌ a comprehensive cross-population assessment by integrating multi-ethnic data to assess this association.

Methods

We recruited 225 patients with VTE and 203 healthy controls for the Chinese case-control study, with rs1613662 genotyped using the Sequenom assay. Additionally, we systematically integrated genotyping data from nine cohorts (with a total of 5,669 VTE cases and 8,976 controls) for the cross-population analysis.

Results

Analysis of the Chinese cohort revealed no statistically significant association between rs1613662 and VTE susceptibility. However, the multi-ethnic meta-analysis revealed significant VTE risk associations for rs1613662 in both the additive (odds ratio [OR] = 1.14, 95% confidence interval [CI]:1.07–1.22, P = 0.00014) and dominant models (OR = 1.16, 95% CI:1.07–1.25, P = 0.00019), but not in the recessive model (OR = 1.22, 95% CI:0.96–1.52, P = 0.082). Sensitivity analysis via the sequential exclusion of individual studies demonstrated remarkable stability.

Conclusions

Our findings demonstrate that rs1613662 is associated with a modest but statistically significant increase in VTE susceptibility on average, with heterogeneous effect sizes across different populations. The observed ethnic heterogeneity suggests the necessity of additional investigation into population-specific genetic architectures. Integrated polygenic risk scores could be used to optimize risk stratification and develop preventive strategies against VTE.