Abstract

Ischemic stroke (IS), the leading neurology cause of death and disability worldwide, is influenced by gene polymorphisms. To explore the association between IS and Apolipoprotein E (APOE) gene polymorphisms, a case–control study containing 513 IS patients and 514 controls without IS was conducted in a Northwest China Han population. MassARRAY iPLEX system was applied to determine the APOE polymorphisms according to the alleles of two single nucleotide polymorphisms (SNPs) of APOE, rs429358, and rs7412. The results showed that rs429358 and rs7412 were in Hardy–Weinberg equilibrium (HWE) in both cases and controls groups. APOE ε4 allele, ε4/ε4 genotype, and ε4-containing genotypes were associated with IS. According to the results of Trial of ORG 10172 in Acute Stroke Treatment (TOAST) classification system, APOE ε2 allele, ε4 allele, and ε4/ε4 genotype were associated with large artery atherosclerosis IS subtypes. In addition, the results also indicated that the ε4 allele related to undetermined IS and ε4/ε4 genotype was related to small vessel disease IS. Compared with subjects with non-ε4-containing genotypes, the total cholesterol (TC) and low-density lipoprotein (LDL) level in blood and the proportion of cardiopath history were higher in all subjects with ε4-containing genotypes. Besides, the triacylglycerides (TG) level in blood was higher in controls with ε4-containing genotypes. In conclusion, in a Northwest China Han population, APOE ε4 allele was associated with blood lipid level. The TC and LDL levels were the independent risk factors for IS. APOE was a risk gene for IS, but not independent, especially for large artery atherosclerosis IS.

Highlights

  • Stroke is the leading neurology cause of death and disability worldwide [1]

  • Many candidate genes which may be related to ischemic stroke (IS), for example Apolipoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR), histone deacetylase 9 (HDAC9), human leukocyte antigen (HLA) and so on, have been studied by researchers [5,6,7,8]

  • Blood laboratory tests results showed that IS susceptibility was associated with GLU, total cholesterol (TC), TG, high-density lipoprotein (HDL), and low-density lipoprotein (LDL)

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Summary

Introduction

Stroke is the leading neurology cause of death and disability worldwide [1]. In China, the annual mortality rate of stroke is approximately 157 per 100 000, which has accounted almost 20% of all death. China has 2.5 million new stroke cases and 7.5 million stroke survivors in each year [2]. According to the research conducted by China National Stroke Registry, ischemic stroke (IS) was a predominant stroke subtype in China, which accounted for 66.7% [3]. Many candidate genes which may be related to IS, for example Apolipoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR), histone deacetylase 9 (HDAC9), human leukocyte antigen (HLA) and so on, have been studied by researchers [5,6,7,8]

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