Abstract
BackgroundIschemic stroke is the main cause of mortality and disability in older people worldwide. Recently epidemiological studies indicate that ischemic stroke is a complex disorder with a strong genetic component. Genome-wide association studies (GWAS) identified several single nucleotide polymorphisms (SNPs) associated with coronary artery disease (CAD) and myocardial infarction (MI) locus in ABO gene. Our study examined the association between four variants in the ABO gene and the risk of ischemic stroke and its subtypes, large-artery atherosclerosis (LAA) and small-vessel diseases (SVD) in the Chinese population.MethodsIn this case–control study, we recruited 1897 subjects, including 979 healthy controls and 918 ischemic stroke patients (465 with LAA and 453 with SVD). We selected four single nucleotide polymorphisms (rs579459, rs651007, rs514659 and rs529565) of the ABO gene and performed genotyping assays to assess the association with ischemic stroke and its subtypes.ResultsWe found three polymorphisms, rs579459 and rs651007 were significantly associated with LAA using additive model and rs529565 was significantly associated with LAA using additive and dominant models. And we failed to find any significant association between these SNPs and ischemic stroke and SVD in the Chinese population. However, after the Bonferroni correction for multiple comparisons, the P-values of these SNPs failed to exceed significant threshold under any models.ConclusionOur findings indicated that genetic variations of ABO gene may contribute to susceptibility of LAA but not ischemic stroke and SVD in the Chinese population. Our preliminary results should be further validated in prospective independent studies with expanded sample size.
Highlights
Ischemic stroke is the main cause of mortality and disability in older people worldwide
There were no significant differences in levels of triglyceride between the ischemic stroke cases and the controls, but total cholesterol, low density lipoprotein, and high density lipoprotein levels were significantly lower in ischemic stroke cases compared to controls
The observed allele and genotype frequencies for ischemic stroke cases and controls are shown in Table 2, rs579459 was significantly associated with the risk of ischemic stroke using dominant model (p = 0.04, Odds ratio (OR) = 1.22, 95 % Confidence interval (CI) = 1.00-1.48)
Summary
Ischemic stroke is the main cause of mortality and disability in older people worldwide. Our study examined the association between four variants in the ABO gene and the risk of ischemic stroke and its subtypes, large-artery atherosclerosis (LAA) and small-vessel diseases (SVD) in the Chinese population. Several studies have found that genetic variants of ABO gene were associated with several diseases. Ischemic stroke and CAD have several common risk factors and genetic susceptibility, especially for LAA and CAD. Taking all these considerations together, the ABO gene may be a promising candidate gene of ischemic stroke. Recent GWAS showed that three SNPs (rs505922, rs643434, and rs651007) of ABO gene were associated with ischemic stroke and its subtypes in the European population [15]. There were no independent replication studies regarding the association between ABO gene and ischemic stroke in Chinese population
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