Abstract

AimsTo investigate the association of several single nucleotide polymorphisms (SNPs) within ACYP2 gene and additional gene- environment interaction with ischemic stroke (IS) risk in a Chinese population.ResultsIS risk was significantly higher in carriers with the G allele of rs11896604 than those with CC genotype (CG or GG versus CC), adjusted OR (95%CI) =1.60 (1.18–2.20), and higher in carriers with the A allele of rs12615793 than those with GG genotype (GA or AA versus GG), adjusted OR (95%CI) = 1.66 (1.24–2.15). GMDR model shown a significant two-locus model (p = 0.0010) involving rs11896604 and alcohol drinking, and a significant two-locus model (p = 0.0010) involving rs12615793 and smoking. Current smokers with rs12615793- GA or AA genotype have the highest IS risk, compared to never- smokers with rs12615793-GG genotype, OR (95%CI) = 2.72 (1.64–3.86); current drinkers with rs11896604-CG or GG genotype have the highest IS risk, compared to never- drinkers with rs11896604-CC genotype, OR (95%CI) = 2.51 (1.70–3.40).Materials and MethodsA total of 1202 participants (660 males, 542 females) were selected, including 600 IS patients and 602 control participants. The mean age of all participants was 68.2 ± 15.8 years. Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination. Logistic regression was performed to investigate the impact of 4 SNPs within ACYP2 gene, additional gene-smoking or drinking interaction on IS risk.ConclusionsWe found that the G allele of rs11896604 and the A allele of rs12615793 within ACYP2 gene, rs12615793- smoking interaction, and rs11896604-alcohol drinking interaction were all associated with increased IS risk.

Highlights

  • Stroke is caused by cell death owing to abnormal blood supply in brain with high mortality and disability [1, 2]

  • ischemic stroke (IS) risk was significantly higher in carriers with the G allele of rs11896604 than those with CC genotype (CG or GG versus CC), adjusted OR (95%CI) =1.60 (1.18–2.20), and higher in carriers with the A allele of rs12615793 than those with GG genotype (GA or AA versus GG), adjusted OR (95%CI) = 1.66 (1.24–2.15)

  • We found that the G allele of rs11896604 and the A allele of rs12615793 within ACYP2 gene, rs12615793- smoking interaction, and rs11896604alcohol drinking interaction were all associated with increased IS risk

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Summary

Introduction

Stroke is caused by cell death owing to abnormal blood supply in brain with high mortality and disability [1, 2]. Previous studies have reported that the shorter telomere length (TL) was associated with risk of several diseases, including IS [7, 8]. Genome wide association study [10] have demonstrated that genetic polymorphisms in ACYP2 are associated with telomere length, which has led to studies of the association between ACYP2 and various diseases, including ischemic stroke [7, 8]. Just one study has reported the association between ACYP2 gene SNPs and IS risk in Chinese population. The aim of this study was to investigate the impact of several SNPs within ACYP2 gene, and their additional gene-smoking or gene- alcohol drinking interaction on IS risk in this Chinese population

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