Background: Recent research have underscored the relation of ABO blood group system to cerebrovascular disorders predisposition. The present investigation endeavors to delve into the relationship between ABO polymorphisms and ischemic stroke (IS) risk.

Methods: A cohort of 646 IS patients and 649 matched healthy controls was recruited. Genotyping of five SNPs within ABO were conducted by Agena MassARRAY platform. Logistic regression models were employed to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Additionally, SNP-SNP interaction was assessed by multifactor dimensionality reduction (MDR) method. Furthermore, Analysis of Variance (ANOVA) was utilized to explore the association between genotypes and blood lipid profiles.

Results: The study identified an elevated IS risk associated with rs8176740 and rs8176720 in the overall population. Notably, ABO rs8176720 emerged as the most informative single-locus model for IS susceptibility. These variants were related to an elevated IS risk, specifically in female subjects, the subgroup aged > 64 years, non-smokers, drinkers or non-drinkers. Moreover, rs8176749 and rs8176745 were associated with red blood cell count levels and total bilirubin levels.

Conclusion: This study firstly demonstrated the association of ABO rs8176740 and rs8176720 with IS incidence, which increased the understanding regarding the effect of ABO on IS pathogenesis.

Keywords: ABO; Ischemic stroke; SNP-SNP; Susceptibility; Variants.

© 2025. The Author(s).

背景： 最近的研究强调了ABO血型系统与脑血管疾病易感性之间的关系。本研究旨在深入探讨ABO多态性和缺血性卒中（IS）风险之间的联系。

方法： 招募了一组646名IS患者和649名匹配的健康对照者。使用Agena MassARRAY平台对ABO内的五个SNP进行基因分型。通过逻辑回归模型估算比值比（ORs）和95%置信区间（CIs）。此外，利用多因子维度减少（MDR）方法评估SNP-SNP交互作用。进一步地，采用方差分析（ANOVA）探索基因型与血液脂质谱之间的关联。

结果： 研究发现，在总体人群中rs8176740和rs8176720与IS风险增加有关。值得注意的是，ABO rs8176720是预测IS易感性的最有效的单基因座模型。这些变异在女性受试者、年龄大于64岁的亚组中以及不吸烟者或饮酒者的群体中特别与IS风险升高相关。此外，rs8176749和rs8176745与红细胞计数水平和总胆红素水平有关。

结论： 本研究首次证明了ABO rs8176740和rs8176720与IS发生率之间的关联，这增加了我们对ABO在IS发病机制中作用的理解。