Association study of polymorphisms in the ABO gene with ischemic stroke in the Chinese populationReport as inadecuate

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BMC Neurology

, 16:146

Cerebrovascular disease and stroke


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.

KeywordsIschemic stroke ABO Single nucleotide polymorphism Association study AbbreviationsSNPSingle nucleotide polymorphism

GWASGenome-wide association studies

CADCoronary artery disease

MIMyocardial infarction

LAALarge-artery atherosclerosis

SVDSmall-vessel diseases

VTEVenous thromboembolism

CTComputed tomography

MRIMagnetic resonance imaging

LDLinkage disequilibrium

HWEHardy-Weinberg equilibrium tests

OROdds ratio

CIConfidence interval

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Author: Xiaoming Ling - Yansong Zheng - Jing Tao - Zhezhou Zheng - Lidian Chen


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