Association Of Estrogen Receptor Beta Gene Polymorphism With Cerebral Infarction, A Case-control Study

Objective:To explore the association between estrogen receptorβgene(ERβ) RsaI and AluI polymorphisms and cerebral infarction in Chinese Han people.Methods:1.Data collection:The case of cerebral infarction included 116 patients,which included 63 men and 53 women.The control group included 116 peoples,which included 53 men and 63 women.We used chi square test to compare the sex composition of the two groups,and used t test to compare the age at onset of the two groups,then we could identify the comparability of the two groups.2.Experiment procedure:2.1 We got 2ml EDTA anticoagulation venous blood from each object,then extracted whole human blood genome DNA,and detected DNA using 1%agarose gel electrophoresis.2.2 We designed and synthesized the primer aimed directly at the objective gene,then amplificated the objective gene in vitro using polymerace chain reaction(PCR),and identified the PCR products using 1%agarose gel electrophoresis and gelatum formatter.2.3 We applied Restriction Fragment Length Polymorphism(RFLP) to analyze the positive PCR products,then identified the RFLP products using 2%agarose gel electrophoresis and gelatum formatter.2.4 Direct sequencing part of the PCR products.3.Datd analysis:We calculated genetype and allele frequency using gene counting method,compared allele gene frequency using 2×2 contingency table chi square test,and compared genotypic frequency using R×C contingency table chi square test. Every statistical analysis was completed on SPSS 13.0 statistical package.All of the P values were two-sided test,and P<0.05 was deemed to have statistical significance.Results:1.The age and sex of the two groups were matched and comparable.2.Compared with past literatures,there were ERβgene polymorphisms variances between different race and districts,and the variances were more obviously between the Eastern and Western worlds.3.The genotype frequency distribution of ERβgene RsaI was significant different(P<0.05)between patients group and control group,which means the rr,RR genotype frequency distribution of patients group are higher than that of control group,and the Rr genotype frequency distribution is lower than control group,but the allele gene frequency distribution was not significantly different(P>0.05).4.The ERβgene AluI polymorphisms were not significantly different(P>0.05) between patients group and control group.5.We stratified the cerebral infarction patients according to age at onset,and found that the genotype frequency distribution of ERβgene RsaI was significantly different between the early onset patients and the delayed onset patients(P<0.05), which means the rr genotype frequency distribution of early onset patients is higher than that of delayed onset patients,so rr genotype maybe the predisposing genotype to early onset cerebral infarction.But the allele gene frequency distribution was not significantly different(P>0.05),as while as the genotypic and allele gene frequency distribution of ERβgene AluI polymorphisms(P>0.05).6.We stratified the cerebral infarction patients according to sex,the genotypic and allele gene frequency distribution of ERβgene RsaI,AluI polymorphisms were not significantly different between male and female patients(P>0.05).Conclusion:ERβgene polymorphisms varied between different race and districts;the genotypic frequency distribution of ERβgene RsaI polymorphisms may influence the liability and the age at onset;but ERβgene AluI polymorphisms may not influence the liability and the age at onset.