摘要
目的探讨基质金属蛋白酶-9(MMP-9)基因rs17576多态性与长沙地区汉族人群脑出血的关系。方法收集2006年1月-2011年4月在湘雅医院就诊的418例脑出血患者和206例健康体检者的外周静脉血提取DNA,采用SNa Pshot和DNA直接测序相结合的方法检测rs17576多态性,比较其基因型及等位基因在两组人群中的分布情况及其对血压水平的影响。结果 MMP-9基因rs17576多态AA、AG、GG基因型在脑出血组与对照组中频率分别为:0.112、0.439、0.449和0.163、0.332、0.505;A/G等位基因频率分别为0.332/0.668和0.329/0.671,脑出血组基因型频率分布与对照组差异有统计学意义(P=0.023)。在对照组中rs17576多态AA、AG和GG基因型之间收缩压、平均动脉压水平整体差异有统计学意义(P<0.05);但在脑出血组中,rs17576多态3种基因型亚组之间收缩压、舒张压及平均动脉压水平差异均无统计学意义。结论 MMP-9基因rs17576多态与长沙地区汉族人群脑出血发病存在关联,其很可能是通过影响血压以外的途径来增加脑出血的易感性。
[ Objective ] To investigate whether Matrix Metallopropeinases-9 （MMP-9） gene single nuclear polymorphism（SNP） rs17576 was associated with intracerebral hemorrhage （ICH） in Chinese Han population. [Methods ] We enrolled 418 ICH patients and 206 unrelated age and gender-matched controls, between January 2006 and April 2011. The polymorphism of rs17576 was analyzed using the multiplex SNaPshot reaction and direct sequencing. Then the frequencies of alleles and genotypes between the two groups and their impact on the blood pressure were compared. [Results] （1）The genotype AA, AG, and GG frequencies of rs17576 in the ICH and the control group were 0.112, 0.439, 0.449 and 0.163, 0.332, 0.505, respectively. The A/G allele frequencies of rs17576 polymorphism in the two groups were 0.332, 0.668 and 0.329, 0.671, respectively. There was significant difference of rs17576 genotype distribution between ICH and control groups （P = 0.023）. （3） In the control group, the levels of systolic blood pressure and mean blood pressure were significantly different among genotypes of rs17576, while there were no significant differences of blood pressure among three genotypes of rs17576 in ICH group （P 〉 0.05）. [ Conclusions] rs17576 polymorphism of MMP-9 gene is associated with ICH in Chinese Han population in Changsha. However, this polymorphism may increase the incidence of ICH by affecting pathways except blood pressure.
出处
《中国现代医学杂志》
CAS
北大核心
2015年第10期36-39,共4页
China Journal of Modern Medicine
基金
湖南省科技厅项目(No:2013SK3009)
关键词
脑出血
基质金属蛋白酶-9
单核苷酸基因多态性
遗传学
intracerebral hemorrhage
matrix metallopropeinases-9 （MMP-9）
single nucleotide polymorphism （SNP）
genetics
