目的：通过检测胆固醇酯转运蛋白（CETP）基因I405V多态性，探讨CETP基因I405V多态性与河北汉族人群脑梗死患者的关系。方法确诊的脑梗死患者350例（男206例，女144例）为试验组，选取非脑梗死患者及健康体检者331例作为对照组（男190...目的：通过检测胆固醇酯转运蛋白（CETP）基因I405V多态性，探讨CETP基因I405V多态性与河北汉族人群脑梗死患者的关系。方法确诊的脑梗死患者350例（男206例，女144例）为试验组，选取非脑梗死患者及健康体检者331例作为对照组（男190例，女141例），应用聚合酶链反应（ PCR）分析技术结合DNA直接测序技术，对2组研究对象的CETP基因I405V（A/G）位点进行多态性分型，按等位基因A和G的出现情况分为ⅠⅠ、ⅠⅤ、ⅤⅤ三种基因型。采用非条件逻辑回归分析统计CETP基因多态位点与脑梗死疾病易感的相关性。同时检测研究对象的血脂水平，并记录2组的吸烟、饮酒、家族史等情况。结果试验组血脂指标中TC、TG、LDL-C与对照组比较明显升高，而HDL-C则明显低于对照组；脑梗死组患者的吸烟、阳性家族史的比例均高于对照组（ P ＜0？．05）。ⅠⅠ、ⅠⅤ、ⅤⅤ基因型在脑梗死组中的分布频率分别为24．3％，37．4％，38．3％，在对照组中分别为50．8％，36．5％，12．7％，2组间基因型频率分布有明显差异（χ2＝8．324， P ＝0．007）。多因素回归分析研究发现，CETP基因I405V（ A/G）多态位点G变异等位基因与脑梗死的遗传易感有相关性（OR＝8．27，95％CI＝5．43～32．57， P ＜0．01）。结论 CETP基因I405V （ A/G）位点基因突变可能是导致河北地区汉族人群脑梗死的原因之一。展开更多
Objective: To investigate the relationship between polymorphisms of rs1532624 and rs289741 loci in cholesteryl ester transfer protein(CETP) genes and atherosclerotic cerebral infarction(ACI). Methods: The CETP gene rs...Objective: To investigate the relationship between polymorphisms of rs1532624 and rs289741 loci in cholesteryl ester transfer protein(CETP) genes and atherosclerotic cerebral infarction(ACI). Methods: The CETP gene rs1532624 and rs289741 in 95 patients with ACI and 177 healthy subjects were genotyped by Mass ARRAY mass spectrometry. Each locus genotype and allele frequency distributions were compared. Results: The difference of allele frequency distribution between the rs1532624(χ~2=1.723, P=0.189) and rs289741(χ~2=2.466, P=0.116) were not statistically significant. The frequency distribution of rs1532624 genotype between the cerebral infarction group and healthy control group was statistically significant(χ~2=7.096, P=0.029), while rs289741 genotype frequency distribution between the two groups was not statistically significant(χ~2=2.906, P=0.234). Conclusion: ACI have a positive correlation with rs1532624 polymorphism, and AA genotype may be susceptible factors of ACI.展开更多
文摘目的：通过检测胆固醇酯转运蛋白（CETP）基因I405V多态性，探讨CETP基因I405V多态性与河北汉族人群脑梗死患者的关系。方法确诊的脑梗死患者350例（男206例，女144例）为试验组，选取非脑梗死患者及健康体检者331例作为对照组（男190例，女141例），应用聚合酶链反应（ PCR）分析技术结合DNA直接测序技术，对2组研究对象的CETP基因I405V（A/G）位点进行多态性分型，按等位基因A和G的出现情况分为ⅠⅠ、ⅠⅤ、ⅤⅤ三种基因型。采用非条件逻辑回归分析统计CETP基因多态位点与脑梗死疾病易感的相关性。同时检测研究对象的血脂水平，并记录2组的吸烟、饮酒、家族史等情况。结果试验组血脂指标中TC、TG、LDL-C与对照组比较明显升高，而HDL-C则明显低于对照组；脑梗死组患者的吸烟、阳性家族史的比例均高于对照组（ P ＜0？．05）。ⅠⅠ、ⅠⅤ、ⅤⅤ基因型在脑梗死组中的分布频率分别为24．3％，37．4％，38．3％，在对照组中分别为50．8％，36．5％，12．7％，2组间基因型频率分布有明显差异（χ2＝8．324， P ＝0．007）。多因素回归分析研究发现，CETP基因I405V（ A/G）多态位点G变异等位基因与脑梗死的遗传易感有相关性（OR＝8．27，95％CI＝5．43～32．57， P ＜0．01）。结论 CETP基因I405V （ A/G）位点基因突变可能是导致河北地区汉族人群脑梗死的原因之一。
基金supported by grants from Natural Science Foundation of China(31501018,31760310,and 81660224)the Social Development Project of Hainan Province(SF201401)
文摘Objective: To investigate the relationship between polymorphisms of rs1532624 and rs289741 loci in cholesteryl ester transfer protein(CETP) genes and atherosclerotic cerebral infarction(ACI). Methods: The CETP gene rs1532624 and rs289741 in 95 patients with ACI and 177 healthy subjects were genotyped by Mass ARRAY mass spectrometry. Each locus genotype and allele frequency distributions were compared. Results: The difference of allele frequency distribution between the rs1532624(χ~2=1.723, P=0.189) and rs289741(χ~2=2.466, P=0.116) were not statistically significant. The frequency distribution of rs1532624 genotype between the cerebral infarction group and healthy control group was statistically significant(χ~2=7.096, P=0.029), while rs289741 genotype frequency distribution between the two groups was not statistically significant(χ~2=2.906, P=0.234). Conclusion: ACI have a positive correlation with rs1532624 polymorphism, and AA genotype may be susceptible factors of ACI.
