| Background and PurposesEpidemiologic studies have shown that hyperilipidemia, hypertension, cigarettesmoking, diabetes mellitus and family history of cerebrovascular disease are the riskfactors for ischemic cerebrovascular diseases (ICVD).Although the accumulation ofcerebrovascular risk factors often leads to ICVD, however, there is a population ofpatients without such classic risk factors who developed ICVD .ICVD may arisefrom interactions between environmental and genetic factors in general,but the precisemechanism by which ICVD occurs remains to be elucidated.FactorⅦ(FⅦ) is the first enzyme in the extrinsic pathway of the bloodcoagulation system. Activation of the extrinsic coagulation pathway plays a key rolein hemostasis, and thus FⅦcontributes to the occurrence of CHD and ICVD.Somestudies suggested that elevated concentrations of FⅦin plasma should be associatedwith risk of CHD and ICVD, especially mortal cardiovascular events. Plasma FⅦconcentrations are influenced by both genetic and environmental factors. FⅦgenepolymorphism can influence FⅦactivity, and influence the process of CHD andICVD. FⅦis the candidate gene of ICVD. In order to study the relations of geneticrisk factors with ICVD in the Henan Han population, we adopted PCR-RFLP tostudy whether the FⅦR353Q polymorphism, the FⅦ5'F7 polymorphism and theFⅦⅣS7 polymorphism are associated with risk of ICVD in the Henan Hanpopulation.Study population1 Patient 512 cases as patient group with ischemic cerebrovascular disease indepartments of neurology in Henan province hospitals were enrolled from December2004 to July 2005.(310 men and 202 women, mean average 60.58±10.26 years).All of them are Han population.2 Controls 560 unrelated heathy controls were selected from subjects in outpatientdepartment who underwent regular check-up examinarion (304 men and 256 women,mean age 58.68±11.03 years).The cases of control group had no history of CHD, EHand DM. All of them are Han population.MethodsPeripheral venous blood samples were collected. Genomic DNA was extractedfrom white cells. Using the primers, we performed polymerase chain reaction(PCR)amplification and refined frequence length polymorphism(RFLP).These productswere electrophoresed on 2.5％agarose gels, and DNA was visualized by ethidiumbromide straining.Statistical analysisGenotype and allele frequencies were estimated by the gene-counting methodand compared using the x2 analysis. Hardy-weinberg equilibrium was confirmedwith the x2 test. All statistical analyses were performed with SPSS 11.0 software.Results1 The relationship between gene polymorphism and ICVD1.1 The genotype distribution of the FⅦR353Q polymorphism, the FⅦ5'F7polymorphism and the FⅦⅣS7 polymorphism was compatible with the Hardy-Weinberg equilibrium in the ICVD group and control group.1.2 Among the normal subjects, the frequencies of these three gene mutations inthe Henan Han population might vary with different ethnic groups or geographicregions.1.3 The distribution of allele and genotype in R353Q polymorphism hadsignificant difference between the cases of control group and ICVD patients. Thedistribution of allele and genotype inⅣS7 polymorphism had significant differencebetween the cases of control group and ICVD patients. There were no significantdifferences in the prevalences of 5'F7 polymorphisms mutation.2 The relationship between haplotype and ICVD1.1 Among the Henan Han population subjects,the R-P0-H6 haplotype was themost common in both ICVD patients and controls group. other nine haplotypes(Q-P0-H4, Q-P0-H5, Q-P0-H8, Q-P10-H4, Q-P10-H5, Q-P10-H8, R-P10-H4, R-P10-H5 andR-P10-H8)were not found.1.2 The prevalence of R-P0-H6 haplotype in the ICVD group were higher than thatin the control group(P＜0.05), there were no significant differences of the otherhaplotypes distribution between two groups(P＞0.05).Conclusion1. There are the FⅦR353Q polymorphism, 5'F7 andⅣS7 polymorphisms in theHenan Han population. In the Henan Han population, the frequencies of these threegene mutations might vary with different ethnic group or geographic regions.2. In the Henan Han population, the Q allele of the R353Q polymorphisms and theH7 allele of theⅣS7 polymorphisms of the factorⅦgene may be protective geneticfactor against ischemic cerebrovascular disease.3. In the Henan Han population, the R-P0-H6 haplotype may be an independentgenetic risk factor for ischemic cerebrovascular disease.4. In the Henan Han population, the 5'F7 polymorphisms is not associated withischemic cerebrovascular disease.5. Novel H4 allele ofⅣS7 polymorphisms was found in the Henan Han population.
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