Abstract
The apolipoprotein C3 (APOC3) gene, which is a member of the APOA1/C3/A4/A5 gene cluster, plays a crucial role in lipid metabolism. Dyslipidemia is an important risk factor for ischemic stroke. In the present study, we performed a hospital-based case—control study of 895 ischemic stroke patients and 883 control subjects to examine the effects of four APOC3 single nucleotide polymorphisms (SNPs) (rs2854116, rs2854117, rs4520 and rs5128) on the risk of ischemic stroke in a northern Chinese Han population. The SNaPshot Multiplex sequencing assay was used for SNP genotyping, and the potential association of genotype distributions and allele frequencies with ischemic stroke was analyzed statistically. Compared with the GG genotype, the CC+GC genotype of rs5128 was significantly associated with an increased risk in females (adjusted OR = 3.38, 95% CI = 1.82–6.28, P <0.01) after all of the risk factors were adjusted for with logistic regression analyses. A similar relationship was found between the rs4520 polymorphism and ischemic stroke risk in Han Chinese women. Under a recessive genetic model, the TT+TC genotypes of this variant increased ischemic stroke risk (adjusted OR = 2.05; 95% CI = 1.28–3.29; P <0.01). Haplotype analysis revealed that in males, the T-C-T-C haplotype of rs2854116-rs2854117-rs4520-rs5128 was significantly more frequent in the ischemic stroke group than in the control group (OR = 1.49, 95% CI = 1.18–1.87, P<0.01). The results of our study indicate that the APOC3 polymorphisms contribute to ischemic stroke susceptibility in females in the northern Chinese Han population.
Highlights
Stroke is a major cause of adult disability and death worldwide [1,2]
Because the association between ischemic stroke and apolipoprotein C3 (APOC3) alleles may be affected by endogenous sex hormones in a sexually dimorphic manner, a subtype analysis was performed on the genotype and allele frequencies of the four single nucleotide polymorphism (SNP) among the 895 ischemic stroke patients and the 883 control subjects, as shown in Tables 2 and 3
We found that the CC+CG genotype of rs5128 was associated with a significantly increased risk of ischemic stroke compared with the homozygous wild-type CC genotype
Summary
Stroke is a major cause of adult disability and death worldwide [1,2]. Ischemic stroke, which is the most common form, occurs as a result of local cerebral ischemia due to an obstruction within a brain-supplying blood vessel. Large-scale genome-wide association studies (GWAS) have identified several genetic polymorphisms that increase the risk for ischemic stroke [6]. These single nucleotide polymorphisms (SNPs) have a limited effect and explain only a small proportion of the heritability of ischemic stroke [7]. We performed a hospital-based case—control study of 895 ischemic stroke patients and 833 control subjects to examine the effect of four SNPs (rs2854116, rs2854117, rs4520 and rs5128) of APOC3 on the risk of ischemic stroke in a northern Chinese Han population
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