载脂蛋白H基因多态性与脑卒中的相关性研究

The relationship of apolipoprotein H gene polymorphism with stroke

目的 探讨载脂蛋白H(apoH)基因多态性与长沙地区汉族人脑卒中的关系。方法 采用PCR 单链构象多态技术和DNA序列测定法检测长沙地区汉族 2 6 0例脑卒中患者、2 0个脑卒中家系成员和 10 0例健康对照者的apoH基因 3号外显子的多态性。结果 长沙地区汉族人apoH基因 3号外显子存在G341A(Ser88Asn)多态 ,在脑出血 (CH)组 ,G341A (Ser88Asn)多态A等位基因频率(0 12 7)明显高于对照组 (0 0 5 5 ) (P <0 0 5 )。有高血压的CH组A等位基因频率 (0 15 1)明显高于对照组 (0 0 5 5 )及无高血压的CH组 (0 0 78) (P <0 0 5 ) ,而后两者比较无统计学意义 (P >0 0 5 )。有家族史的CH患者A等位基因频率 (0 15 0 )明显高于对照组 (0 0 5 5 ) (P <0 0 5 ) ,以CH为主的家系中患病组与未患病组A等位基因 (0 16 0 ,0 12 8)频率均明显高于对照组 (0 0 5 5 ) (P <0 0 5 )。apoH基因G341A(Ser88Asn)多态性与脑梗死无关。结论 G341A(Ser88Asn)多态A等位基因可能是长沙地区汉族人CH ,特别是高血压性CH及有家族史的CH患者的遗传危险因素。

Objective To study the association between apolipoprotein H (apoH)gene polymorphism and cerebral apoplexy among the Hans in Changsha, Hunan Province. Methods Polymorphisms in exon 3 of apoH gene was determined by PCR-single strand conformation polymorphism (PCR-SSCP) analysis and DNA sequencing among 260 patients with stroke of Han nationality in Changsha, including 130 cerebral hemorrhage (CH) patients , of which 50 were with a family history of CH, and 79 with hypertension and 51 without hypertension, and 130 cerebral infarction (CI) patients, of which 50 were with a family history of CI, and 66 with hypertension and 64 without hypertension; 20 members of stroke pedigrees, and 100 healthy controls. Results G341A (Ser88Asn)polymorphism in exon 3 of apoH gene was found in Changsha Hans. The frequency of A allele was 0.127 in the CH group, especially in CH patients with a family history of stroke or hypertension, significantly higher than that in control group(0.055, P <0.05). The frequency of A allele was also significantly higher in members of CH pedigrees than in controls. No association between G341A(Ser88Asn)polymorphism and CI was found. Conclusion A allele in G341A (Ser88Asn)polymorphism may be a genetic risk factor of CH among Changsha Hans, especially the CH patients with hypertension and those with a family history of hypertension.