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  

The correlation between MMP-9 gene polymorphism and chronic heart failure in Henan Han population

作　　者：殷国田[1] 张银珂 黄艳梅[3] 黎佳琪 董双双[2] 解娜[1] 尚万兵[3] 

机构地区：[1]新乡医学院第三附属医院心血管内科,河南新乡453003 [2]新乡医学院基础医学院,河南新乡453003 [3]新乡医学院法医学系,河南新乡453003

出　　处：《广东医学》2015年第6期853-856,共4页Guangdong Medical Journal

基　　金：河南省教育厅自然科学基金资助项目(编号:2008A310010);河南省卫生厅攻关项目(编号:201403131)

摘　　要：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。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 P574R on MMP - 9 gene have no association with CHF.

关 键 词：基质金属蛋白酶-9 慢性心力衰竭 单核苷酸多态性 限制性扩增片段长度多态性 

分 类 号：R735.2[医药卫生—肿瘤]