凝血因子Ⅶ基因多态性及其单倍型与缺血性脑血管病的相关性  

Relationship between gene polymorphisms of coagulation factor Ⅶ and ischemic cerebrovascular diseases in Henan Han population

作　　者：贺颖[1] 封青川[1] 于海东[1] 白峻瑜[1] 齐华[1] 郑红[1] 

机构地区：[1]郑州大学基础医学院遗传教研室,450052

出　　处：《中华神经科杂志》2011年第2期96-100,共5页Chinese Journal of Neurology

基　　金：河南省高校杰出人才创新工程基金资助项目（2005KYCX02）

摘　　要：目的 探讨中国河南汉族人群凝血因子Ⅶ（FⅦ）基因多态性及其单倍型与缺血性脑血管病（ICVD）的相关性.方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对512例ICVD患者和560名健康对照的FⅦ基因R353Q、5＇F7和IVS7多态进行检测,并进行基因型频率及等位基因频率的比较和单倍型分析.结果 FⅦ/R353Q多态中,ICVD组RQ基因型频率及Q等位基因频率均明显低于对照组.FⅦ/IVS7多态中,ICVD组H6H7基因型频率及H7等位基因频率均明显低于对照组.单倍型R-P0-H6在ICVD病例组的分布频率（53.3%）显著高于对照组（47.5%,OR=1.219,95%CI1.028～1.446,P=0.023）.结论 FⅦ基因R353Q多态中Q等位基因和IVS7多态中H7等位基因可能是河南地区汉族人群缺血性脑血管病的遗传保护因子;R-P0-H6单倍型可能是河南地区汉族人群缺血性脑血管病的遗传风险单倍型.Objective To explore the associations between coagulation factor Ⅶ （FⅦ）polymorphisms and its haplotype with risk of ischemic cerebrovascular diseases （ICVD） in Henan Han population. Methods Five hundred and twelve cases with ICVD as patient group and 560 healthy subjects as control were recruited in the study. The polymorphisms of R353Q, 5＇F7 and IVS7 were detected by PCR-RFLP. The genotype frequency and allele gene frequency were compared between ICVD group and control group. The haplotype was analyzed by SHEsis software. Results The RQ genotype frequencies and Q allele frequencies of ICVD group were significantly lower than those of control group. The distribution of H7 allele frequencies and H6H7 genotype frequencies of FⅦ/IVS7 polymorphisms had significant difference between ICVD group and control group. Finally, the prevalence of R-P0-H6 haplotype in ICVD group（53. 3% ）was higher than that in control group （47.5%, OR = 1. 219, 95% CI 1. 028-1. 446,P =0.023）. Conclusions In Henan Han population, the Q allele of F Ⅶ/R353Q polymorphisms and the H7 allele of F Ⅶ/IVS7 polymorphisms may be protective genetic factors against ischemic cerebrovascular disease, and the R-P0-H6 haplotype may be a risk factor of ischemic cerebrovascular disease.

关 键 词：脑缺血 脑血管障碍 因子Ⅶ 多态现象 遗传 单元型 

分 类 号：R743.3[医药卫生—神经病学与精神病学]