Gu Lian, Su Li, Chen Qing, Liang Baoyun, Qin Yuwang, Xie Juanjuan, Wu Guangliang, Yan Yan, Long Jianxiong, Wu Huayu, Tan Jinjing, Dou Weihua, Chen Wei, Wu Peng, Wang Jinping
Department of Internal Neurology, First Affiliated Hospital, Guangxi University of Chinese Medicine, Nanning, Guangxi 530023;
Exp Ther Med. 2013 Mar;5(3):853-859. doi: 10.3892/etm.2012.866. Epub 2012 Dec 19.
Ischemic stroke (IS) is a complex multifactorial inherited disease. Many studies have focused on the potential genetic effects of apolipoprotein E (ApoE) gene polymorphism on IS. However, inconsistencies still exist in the association of ApoE gene polymorphism with IS. The aim of this study was to investigate the ApoE gene polymorphism in relation to IS in the Guangxi Han populations and assess the risk of various ApoE genotypes associated with IS in Chinese populations. We conducted a case-control study involving a total of 166 IS cases and 192 healthy controls to investigate the association of ApoE gene polymorphism with IS in the Guangxi Han populations. Furthermore, we performed a meta-analysis to investigate whether the ApoE gene polymorphism is associated with IS in Chinese populations. There was no evidence for a significant association between ApoE gene polymorphism and IS in the Guangxi Han populations (ɛ2/ɛ2 vs. ɛ3/ɛ3: OR=1.25, 95% CI=0.08-20.17; ɛ2/ɛ3 vs. ɛ3/ɛ3: OR=1.49, 95% CI=0.79-2.79; ɛ2/ɛ4 vs. ɛ3/ɛ3: OR=1.25, 95% CI=0.17-9.00; ɛ3/ɛ4 vs. ɛ3/ɛ3: OR=1.10, 95% CI=0.60-2.04; ɛ4/ɛ4 vs. ɛ3/ɛ3: OR=2.50, 95% CI=0.22-27.87; allele ɛ2 vs. allele ɛ3: OR=1.39, 95% CI=0.80-2.44; allele ɛ4 vs. allele ɛ3: OR=1.16, 95% CI=0.68-1.98). In our meta-analysis, a significant association of ApoE gene polymorphism with IS was found in the genetic model of ɛ2/ɛ4 vs. ɛ3/ɛ3 (OR=2.04, 95% CI=1.45-2.85), ɛ3/ɛ4 vs. ɛ3/ɛ3 (OR=1.93, 95% CI=1.42-2.62), ɛ4/ɛ4 vs. ɛ3/ɛ3 (OR=3.41, 95% CI=2.17-5.34) and allele ɛ4 vs. allele ɛ3 (OR=2.34, 95% CI=1.91-2.86). However, no clear associations were found in the model of ɛ2/ɛ2 vs. ɛ3/ɛ3 (OR=1.56, 95% CI=0.90-2.71), ɛ2/ɛ3 vs. ɛ3/ɛ3 (OR=0.93, 95% CI=0.79-1.09) and allele ɛ2 vs. allele ɛ3 (OR=1.10, 95% CI=0.97-1.25). In conclusion, no association was found between ApoE gene polymorphism and IS in the Guangxi Han populations, while the results of the meta-analysis indicate that the ApoE mutation allele ɛ4 increases the risk of IS in Chinese populations.
缺血性中风（IS）是一种复杂的多因素遗传性疾病。许多研究都聚焦于载脂蛋白E（ApoE）基因多态性对IS的潜在遗传影响。然而，ApoE基因多态性与IS之间的关联仍存在不一致之处。本研究旨在调查广西汉族人群中ApoE基因多态性与IS的关系，并评估中国人群中各种ApoE基因型与IS相关的风险。我们进行了一项病例对照研究，共纳入166例IS患者和192例健康对照，以调查广西汉族人群中ApoE基因多态性与IS的关联。此外，我们进行了一项荟萃分析，以研究ApoE基因多态性在中国人群中是否与IS相关。在广西汉族人群中，没有证据表明ApoE基因多态性与IS之间存在显著关联（ɛ2/ɛ2与ɛ3/ɛ3比较：OR = 1.25，95% CI = 0.08 - 20.17；ɛ2/ɛ3与ɛ3/ɛ3比较：OR = 1.49，95% CI = 0.79 - 2.79；ɛ2/ɛ4与ɛ3/ɛ3比较：OR = 1.25，95% CI = 0.17 - 9.00；ɛ3/ɛ4与ɛ3/ɛ3比较：OR = 1.10，95% CI = 0.60 - 2.04；ɛ4/ɛ4与ɛ3/ɛ3比较：OR = 2.50，95% CI = 0.22 - 27.87；等位基因ɛ2与等位基因ɛ3比较：OR = 1.39，95% CI = 0.80 - 2.44；等位基因ɛ4与等位基因ɛ3比较：OR = 1.16，95% CI = 0.68 - 1.98）。在我们的荟萃分析中，在ɛ2/ɛ4与ɛ3/ɛ3（OR = 2.04，95% CI = 1.45 - 2.85）、ɛ3/ɛ4与ɛ3/ɛ3（OR = 1.93，95% CI = 1.42 - 2.62）、ɛ4/ɛ4与ɛ3/ɛ3（OR = 3.41，95% CI = 2.17 - 5.34）以及等位基因ɛ4与等位基因ɛ3（OR = 2.34，95% CI = 1.91 - 2.86）的遗传模型中发现ApoE基因多态性与IS存在显著关联。然而，在ɛ2/ɛ2与ɛ3/ɛ3（OR = 1.56，95% CI = 0.90 - 2.71）、ɛ2/ɛ3与ɛ3/ɛ3（OR = 0.93，95% CI = 0.79 - 1.09）以及等位基因ɛ2与等位基因ɛ3（OR = 1.10，95% CI = 0.97 - 1.25）的模型中未发现明确关联。总之，在广西汉族人群中未发现ApoE基因多态性与IS之间的关联，而荟萃分析结果表明ApoE突变等位基因ɛ4增加了中国人群患IS的风险。
