Zhong Yi, Lin Mei, Zhou Xiaoli, He Chanyi, Lin Qi, Li Quanni, Ding Yipeng
Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China.
BMC Med Genomics. 2025 Jun 3;18(1):102. doi: 10.1186/s12920-025-02170-z.
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.
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.
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.
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.
近期研究强调了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基因多态性与缺血性中风（IS）风险之间的关系。
招募了646例IS患者和649例匹配的健康对照。通过Agena MassARRAY平台对ABO基因内的5个单核苷酸多态性（SNP）进行基因分型。采用逻辑回归模型估计比值比（OR）和95%置信区间（CI）。此外，通过多因素降维（MDR）方法评估SNP-SNP相互作用。此外，利用方差分析（ANOVA）探讨基因型与血脂谱之间的关联。
该研究发现，在总体人群中，rs8176740和rs8176720与IS风险升高相关。值得注意的是，ABO rs8176720成为IS易感性最具信息量的单基因座模型。这些变异与IS风险升高相关，特别是在女性受试者、年龄>64岁的亚组、非吸烟者、饮酒者或非饮酒者中。此外，rs8176749和rs8176745与红细胞计数水平和总胆红素水平相关。
本研究首次证明了ABO rs8176740和rs8176720与IS发病率的关联，这增加了对ABO对IS发病机制影响的理解。
