Abstract

BackgroundPrevious genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be involved in the process of atherosclerosis, but there was little information about the association between genotypic polymorphisms of the GUCY1A3 and large artery atherosclerotic (LAA) stroke. This study aimed to investigate the associations between the GUCY1A3 rs7692387, rs1842896 polymorphisms and LAA stroke susceptibility.MethodsA total of 298 LAA stroke patients and 300 control subjects from a southern Chinese Han population were included. SNaPshot technique was used for genotype analysis. Associations between genotypes and LAA stroke susceptibility were analyzed with logistic regression model.ResultsOur study found that under the recessive model (TT vs. GT + GG), the GUCY1A3 rs1842896 polymorphism was significantly correlated with LAA stroke (OR = 1.48, 95%CI: 1.07–2.04, P = 0.018). After adjustment for its effects on age, gender, cigarette smoking, total cholesterol, low-density lipoprotein cholesterol, HbA1c, hypertension, diabetes mellitus, and CAD, the rs1842896 TT genotype retained association with increased susceptibility to LAA stroke (recessive model: adjusted OR = 1.96, 95%CI: 1.22–3.17, P = 0.006). However, association between rs7692387 polymorphism with LAA stroke was not observed.ConclusionOur results indicate that the GUCY1A3 rs1842896 polymorphism is an LAA stroke risk factor in Southern Han Chinese.

Highlights

  • Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD)

  • After adjustment for its effects on age, gender, cigarette smoking, total cholesterol, low-density lipoprotein cholesterol, Hemoglobin A1c (HbA1c), hypertension, diabetes mellitus, and CAD, the rs1842896 TT genotype retained association with increased susceptibility to large artery atherosclerotic (LAA) stroke, indicating the SNP might be associated with LAA stroke independently of its effects on hypertension, diabetes mellitus and CAD

  • We were not able to collect the important risk factor for subjects who participated in the study. Further studies solving these limitations are needed. To our knowledge, this is the first study to demonstrate an association between the GUCY1A3 rs1842896 and LAA stroke

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Summary

Introduction

Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be involved in the process of atherosclerosis, but there was little information about the association between genotypic polymorphisms of the GUCY1A3 and large artery atherosclerotic (LAA) stroke. This study aimed to investigate the associations between the GUCY1A3 rs7692387, rs1842896 polymorphisms and LAA stroke susceptibility. Some of these variants on chromosome 4q32.1 tags the GUCY1A3 gene (according to a new nomenclature known as GUCY1A1) [6, 7]. Previous GWAS have found rs7692387 [11] and rs1842896 [6] single nucleotide polymorphisms (SNPs) located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). The nidi of CAD and LAA stroke are different, they share the same pathophysiological basis: atherosclerosis

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