Association study of polymorphisms in the ABO gene with ischemic stroke in the Chinese population

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.

A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in Chinese south men

“…ABO encodes proteins related to the first discovered blood group system. The abnormal expression or polymorphism of this gene are correlated with several body dysfunction, such as ischemic stroke [43], large artery atherosclerotic stroke [44] and pancreatic cancer [45].…”

A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in Chinese south men

“…For example, ABO gene located around 9q34.2, encodes glycosyltransferases related to the first discovered ABO blood group system [43]. The abnormal expression or polymorphism of this gene is correlated with several body dysfunctions, such as ischemic stroke [44], large artery atherosclerotic stroke [45] and pancreatic cancer [46]. CYP19A1 gene located on 15q21.2, encodes key enzyme for estrogen biosynthesis.…”

A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men

“…For example, the ABO gene located near 9q34.2 encodes glycosyltransferases related to the first discovered ABO blood group system [49]. The abnormal expression or polymorphism of this gene is correlated with several body dysfunctions, such as ischaemic stroke [50], large artery atherosclerotic stroke [51] and pancreatic cancer [52]. The CYP19A1 gene, located on 15q21.2, encodes a key enzyme for oestrogen biosynthesis.…”