血小板膜糖蛋白Ⅰb Kozak序列-5T/C及纤维蛋白原β-148C/T基因多态性与脑梗死

目的研究雷州半岛地区汉族人群血小板膜糖蛋白(GP)ⅠbKozak序列-5T/C和纤维蛋白原(Fib)β-148C/T基因多态性位点与脑梗死的关系。方法选择雷州半岛地区汉族人群健康体检者130例(对照组)和经头颅CT和(或)MRI证实的脑梗死患者148例(脑梗死组),用PCR-RFLP检测GPⅠbKozak序列-5T/C和Fibβ-148C/T基因多态性,分析两组频率分布特点及与脑梗死的关系。结果脑梗死组β-148C/T位点T等位基因频率为30.1%,对照组为21.9%,(P<0.05),脑梗死组GPⅠbKozak序列C等位基因频率为48.7%,对照组为39.6%,(P<0.05),两个多态性位点连锁不平衡系数D为-0.018(P>0.05)。结论Fibβ-148C/T位点T等位基因和GPⅠbKozak序列C等位基因是雷州半岛地区汉族人群脑梗死的遗传易感因素,但二者不存在连锁不平衡关系。

Relation of platelet membrane glycoprotein Ⅰb Kozak sequence -5T/Cgene and beta fibrinogen-148C/T gene polymorphism with cerebral infarction

Objective To study the relationship between platelet membrane glycoprotein Ⅰb Kozak sequence-5T/C gene,beta fibrinogen-148C/T gene polymorphism and cerebral infarction in Chinese Leizhou peninsula Hans.Methods A case-control study of 148 cases of cerebral infarction(CI group) confirmed by CT or MRI and 130 healthy controls(control group) was carried out.The platelet membrane glycoprotein Ⅰb Kozak sequence-5T/C and beta fibrinogen-148C/T genotypes and gene frequencies were analyzed by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP).Results The frequencies of beta-Fib-148C/T gene T allele in CI group and control group were 30.1% and 21.9%,respectively(P<0.05).Beta Fib-148C/T gene T allele carriers had 2.023-fold increased risk for ischemic cerebrovascular events(OR= 2.023,95% confidence interval:1.157-3.537,P=0.0134) over C/C genotype carriers.The frequencies of GPⅠb Kozak T/C C allele in CI group and control group were 48.7% and 39.6%,respectively(P<0.05).Homozygous C/C genotype carriers had 2.541-fold increased risk for ischemic cerebrovascular events(OR=2.541,95% confidence interval:1.124-5.744,P= 0.0250) over T/T or T/C genotype carriers together.The coefficient of linkage disequilibrium for the two gene polymorphisms was-0.018(P>0.05)。Conclusions The glycoprotein Ⅰb Kozak-5T/C C/C genotype and beta Fib-148C/T gene T allele may be the genetic factors for susceptibility to cerebral infarction,but there is no disequilibrium linkage between the two gene polymorphisms.