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

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...

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Main Authors: Yi Zhong, Mei Lin, Xiaoli Zhou, Chanyi He, Qi Lin, Quanni Li, Yipeng Ding
Format: Article
Language:English
Published: BMC 2025-06-01
Series:BMC Medical Genomics
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Online Access:https://doi.org/10.1186/s12920-025-02170-z
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author Yi Zhong
Mei Lin
Xiaoli Zhou
Chanyi He
Qi Lin
Quanni Li
Yipeng Ding
author_facet Yi Zhong
Mei Lin
Xiaoli Zhou
Chanyi He
Qi Lin
Quanni Li
Yipeng Ding
author_sort Yi Zhong
collection DOAJ
description 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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spelling doaj-art-69b0a65d76b5422da08e1c3ebb319d8a2025-08-20T03:26:48ZengBMCBMC Medical Genomics1755-87942025-06-0118111110.1186/s12920-025-02170-zABO exon polymorphisms are related to ischemic stroke in a Chinese Han populationYi Zhong0Mei Lin1Xiaoli Zhou2Chanyi He3Qi Lin4Quanni Li5Yipeng Ding6Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityDepartment of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical UniversityAbstract 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.https://doi.org/10.1186/s12920-025-02170-zIschemic strokeABOVariantsSNP-SNPSusceptibility
spellingShingle Yi Zhong
Mei Lin
Xiaoli Zhou
Chanyi He
Qi Lin
Quanni Li
Yipeng Ding
ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
BMC Medical Genomics
Ischemic stroke
ABO
Variants
SNP-SNP
Susceptibility
title ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
title_full ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
title_fullStr ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
title_full_unstemmed ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
title_short ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population
title_sort abo exon polymorphisms are related to ischemic stroke in a chinese han population
topic Ischemic stroke
ABO
Variants
SNP-SNP
Susceptibility
url https://doi.org/10.1186/s12920-025-02170-z
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AT chanyihe aboexonpolymorphismsarerelatedtoischemicstrokeinachinesehanpopulation
AT qilin aboexonpolymorphismsarerelatedtoischemicstrokeinachinesehanpopulation
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