基质金属蛋白酶－9基因多态性与河南汉族人群慢性心力衰竭的相关性

摘要

Objective To study the correlation of single nucleotide polymorphisms ( SNPs) at MMP-9 gene with chronic heart failure ( CHF) among Henan Han population .Methods Polymerase chain reaction -restriction fragment length polymorphism ( PCR-RFLP) was used to detect the gene polymorphisms of three SNPs sites , including -1562C>T (rs3918242), R279Q (rs17576) and P574R (rs2250889), on MMP-9 gene.Alleles and genotypes were obtained according numbers and size of PCR products restricted .The data and the association between CHF and 3 SNPs on MMP-9 gene were analyzed with case -control study using SHEsis software .Results There was no significant difference in al-lelic frequency of MMP-9 gene -1562C>T between healthy subjects and patients (P>0.05), and the risk of CHF in the patients carried allele T was 1.25 times higher than that in those carried allele C (OR=1.254).The frequency of AG genotype of MMP-9 R279Q in patients with CHF was significantly increased (P<0.05).There was no significant differ-ence in genotype or allelic frequency of MMP -9 P574R between healthy subjects and CHF patients .There were signifi-cant difference in ACT and GCT haplotypes between the case group and the control group (P<0.05).Compared with the control group, the OR value of ACT haplotype was more than 1 in case group.ACT haplotype increased the risk of CHF . Conclusion In Henan Han population , T allele of MMP-9-1562C>T, AG genotype of MMP -9 R279Q and ACT GCT haplotype might increase the risk of CHF , while the allele and genotypes of P 574R on MMP-9 gene have no associa-tion with CHF .%目的：探讨基质金属蛋白酶－9（MMP－9）基因多态性与河南汉族人群慢性心力衰竭（CHF）发病的相关性。方法采用限制性扩增片段长度多态性的方法检测116例CHF患者（ CHF组）和100例健康体检者（对照组）MMP－9基因－1562C＞T（rs3918242）、R279Q（rs17576）、P574R（rs2250889）多态性，根据酶切后的片段数目和大小判读等位基因和基因型；病例对照分析并运用SHEsis软件分析实验数据，判断MMP－9基因上3个SNPs是否与CHF有关。结果 MMP－9基因－1562C＞T位点的等位基因频率两组间差异无统计学意义（ P＞0．05），携带T等位基因个体患CHF的风险是C等位基因的1．25倍（OR＝1．254）；CHF组MMP－9基因 R279Q的AG基因型频率增加（P＜0．05）。 MMP－9基因P574R位点等位基因及基因型频率在两组间差异无统计学意义（P＞0．05）；MMP－9基因3个SNPs组成的单体型共推断出7种，其中单体型ACT和GCT 频率在CHF组和对照组中差异有统计学意义（P＜0．05），CHF组和对照组比较，单体型ACT OR＝2．823（95％CI 1．062～7．501）＞1，说明单体型ACT更易增加CHF患病风险。结论在河南汉族人群中，MMP－9基因－1562C＞T位点的等位基因T和R279Q位点AG基因型以及3个SNPs组成的单体型ACT、GCT可能增加CHF患病的风险性，而P574R位点可能与CHF的易感性无关。