ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population.

IF 2.1 4区医学 Q3 GENETICS & HEREDITY

BMC Medical Genomics Pub Date : 2025-06-03 DOI:10.1186/s12920-025-02170-z

Yi Zhong, Mei Lin, Xiaoli Zhou, Chanyi He, Qi Lin, Quanni Li, Yipeng Ding

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引用次数: 0

Abstract

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.

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ABO外显子多态性与中国汉族人群缺血性卒中有关。

背景：近年来的研究强调ABO血型系统与脑血管疾病易感性的关系。本研究旨在探讨ABO多态性与缺血性卒中（IS）风险之间的关系。方法：招募646名IS患者和649名匹配的健康对照者。采用Agena MassARRAY平台对ABO中5个snp进行基因分型。采用Logistic回归模型估计比值比（ORs）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，采用方差分析（ANOVA）来探讨基因型与血脂谱之间的关系。结果：该研究确定了总体人群中rs8176740和rs8176720相关的IS风险升高。值得注意的是，ABO rs8176720成为IS易感性信息最多的单位点模型。这些变异与IS风险升高有关，特别是在女性受试者中，年龄在50 - 64岁的亚组中，不吸烟、饮酒或不饮酒。此外，rs8176749和rs8176745与红细胞计数水平和总胆红素水平相关。结论：本研究首次证实了ABO rs8176740和rs8176720与IS发病的相关性，增加了对ABO在IS发病机制中的作用的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Medical Genomics 医学-遗传学

CiteScore

3.90

自引率

0.00%

发文量

243

审稿时长

3.5 months

期刊介绍： BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.