BackgroundApolipoprotein E (ApoE) is a multifunctional protein that plays an important role in lipoprotein metabolism. However, the relationship between APOE gene polymorphisms and cerebral infarction in the Chinese population remains unclear. Therefore, we studied the role of APOE gene polymorphisms in patients with cerebral infarction in a Chinese population.Material/MethodsThis study involved 906 patients with cerebral infarction and 1,141 individuals without cerebral infarction who served as controls. APOE genotypes were identified in all participants who participated in the study. Factors influencing cerebral infarction were also analyzed.ResultsStatistically significant variances in the distribution and frequencies of the APOE genotypes in the patients were observed (ɛ2/ɛ3 versus ɛ2/ɛ4 versus ɛ3/ɛ3=22.85% versus 7.62% versus 56.95%) and controls (ɛ2/ɛ3 versus ɛ2/ɛ4 versus ɛ3/ɛ3=17.27% versus 2.72% versus 66.87%; p<0.001). Univariate analysis showed that the APOE ɛ3/ɛ3 genotype [OR, 0.393 (95% CI, 0.237–0.653); p<0.001] and ɛ3/ɛ4 genotype [OR, 0.376 (95% CI 0.221–0.637); p<0.001] played a protective role against cerebral infarction in Chinese men.ConclusionsStatistically significant variances in the distribution and frequencies of the APOE genotypes of the patients and controls were observed. The study demonstrated that the APOE ɛ3/ɛ3 and ɛ3/ɛ4 genotypes played a protective role against cerebral infarction in Chinese men, but not women. Additionally, the ɛ2/ɛ4 genotype may be a potential risk factor in men, whereas ɛ3/ɛ4 genotype may play a potential protective role against this disease in women.

Our results shed new light on the important benefit of testing CYP2C19 polymorphisms before prescribing clopidogrel in patients treated with drug-eluting stent implantation after PCI. The testing may help to optimize pharmacotherapy effectiveness by providing individualized treatment to the Chinese population. Our findings mandate further studies aimed at initiating genome-based personalized antiplatelet therapy in a Hakka population in southern China.

Previous studies have shown that methylenetetrahydrofolate reductase (MTHFR) gene to be a genetic risk factor for the susceptibility to ischemic stroke. The aim of this case-control study was to investigate whether the polymorphisms of MTHFR C677T were associated with the susceptibility to ischemic stroke in a southern Chinese Hakka population. In this study, a total of 1967 ischemic stroke patients and 2565 controls of Chinese Hakka ethnicity were recruited. The MTHFR C677T polymorphisms were genotyped by polymerase chain reaction (PCR) amplification and microarray method. The risk of ischemic stroke was estimated by logistic regression analysis. The frequencies of CC, CT, and TT genotypes were 52.67% versus 55.63%, 40.31% versus 38.52%, and 7.02% versus 5.85% in patients with ischemic stroke versus controls, respectively. The frequency of T allele was significantly higher in ischemic stroke patients (27.17%) than in controls (25.11%) (P = .026, odds ratio [OR] 1.113, 95% confidence interval [CI] 1.013–1.223). The homozygous TT genotype in the ischemic stroke patients was associated with increased risk (P = .049, OR 1.132, 95% CI 1.001–1.281) when compared with the controls after adjustment for age and sex. The positive association was only found in dominant model without adjustment for age and sex (P = .047, OR 1.127, 95% CI 1.002–1.268). Also, the carrier status of the MTHFR T allele was identified as an independent risk factor for the development ischemic stroke even after the adjustment for conventional risk factors (P = 0.047, OR 1.109, 95% CI 0.964–1.225). Our results provide evidence that variants of MTHFR C677T gene may influence the risk of developing ischemic stroke in a southern Chinese Hakka population. Further studies are needed to confirm this association, which will promote the development of strategies for prevention and treatment of ischemic stroke in our study population.