| Background Chronic congestive heart failure seriously threatens people's physical and mental health,and the molecular genetic mechanism of the disease is still a hot topic at present.The excessive expression and increased activity of Matrix metalloproteinases(MMPs)may lead to remodeling of heart tissue and vascular system,sequentially give rise to cardiovascular system injury,and ultimately result in deterioration of the heart function and even heart failure(HF).Objective The relationship between five single nucleotide polymorphisms(SNPs)of MMPs gene promoter region and chronic congestive heart failure among Henan Han population would be discussed in this study.Methods1.Samples collected and genomic DNA extracted: With the informed consent,a total of 186 blood samples of CHF patients and 160 blood samples of healthy controls were selected.The genomic DNA of these blood samples were extracted with phenol/chloroform method.2.Method genotyped for SNPs: The sites of five SNPs including rs2285053,rs243865,rs11568818,rs11225395 and rs225207 will be detected by method of Polymerase Chain Reaction–restriction fragment length polymorphism(PCR-RFLP).3.Statistical analysis: Put each group of genotype and allele in the excle.The frequency distribution between case group and control group,Hardy-Weinberg equilibrium test,Haplotype inference,odd ratio,95%confidence interval are calculated by case-control analysis using SHEsis software.At the same time,the closely degree of those three poly morphic linkage disequilibrium was analyzed.All statistical tests are Bilateral inspection,Inspection level? = 0.05.The measruement data that don't match Normal distribution,appl ing T inspection after the square root transformation.Results1.Hardy-Weinberg equilibrium test for MMPs genotype distribution: Among the group of patients and controls,the genotype frequency of three SNP sites in MMPs gene rs2285053,rs243865,and rs225207 was in accordance with the Hardy-Weinberg equilibrium(P>0.05).Allele types of rs243865 and rs11568818 are all of CC and AA types,respectively.There is possibly no polymorphism for rs243865 and rs11568818 SNPs in Henan Han Population,so these two SNPs will not be analyzed later.2.The relationship between three SNP sites in MMPs gene and CHF: The frequency of T allele of rs2285053 in the CHF patients was lower than that in the controls(P=0.043).The frequency of T allele of rs11225395 in the CHF patients was much lower than that in the controls(P= 0.004),OR = 1.966[95%CI(1.236-3.129)];the frequency of TT genotype was also lower significantly compared with the control group(P=0.009).The frequency of G allele of rs225207 showed the opposite trend(P=0.002),OR=0.499[95%CI(0.320-3.779)];the frequency of GG genotype of rs225207 was much higher as compared to the control group(P=0.007).3.Haplotype analysis of three SNP sites in MMPs gene with heart failure: The frequency of haplotype GGG was significantly higher in the patient group than that in the control group(P<0.01),OR =3.436[95%CI(1.888~6.253)].Conclusions1.The frequency of T allele of rs2285053 and rs11225395 in the CHF patients was lower than that in the controls;The frequency of G allele of rs225207 and haplotype CCG might confer higher risk of chronic congestive heart failure;2.T allele of rs2285053 and rs11225395 might confer lower risk of chronic congestive heart failure;G allele of rs225207 and haplotype CCG might confer higher risk of chronic congestive heart failure;... |
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