基质金属蛋白酶-9基因多态性与缺血性脑卒中的相关性

目的探讨基质金属蛋白酶-9(matrix metalloproteinases-9,MMP-9)基因多态性与缺血性脑卒中的相关性。方法运用多重小测序技术(multiplex SNa Pshot)分析粤西地区251例缺血性脑卒中患者和96例健康对照组MMP-9基因(rs3787268、rs3918241、rs3918242)的多态性分布,并分析与缺血性脑卒中的相关性。结果 (1)与对照组相比,病例组rs3787268基因型频率有统计学差异(P=0.042),在隐性模型中A/A基因型的个体患病风险升高(OR=2.21,P=0.046);(2)rs3918242基因型频率亦有统计学差异(P=0.007),在显性模型中,携带T基因型的个体患病风险升高(OR=2.14,P=0.009);(3)其中rs3787268在大动脉粥样硬化(large artery atherosclerosis,LAA)亚型组的基因型分布与对照组相比有统计学差异(P=0.039),而非LAA亚型中无统计学差异;rs3918242在LAA亚型组的基因型和等位基因频率与对照组相比分别有统计学差异(P=0.009,P=0.047),在非LAA亚型中无统计学差异。结论 MMP-9基因rs3787268和rs3918242多态位点突变可能与中国粤西地区汉族人群缺血性脑卒中的发病风险相关;并主要可能增加了LAA型脑卒中的发病风险。

An association study between matrix metalloproteinase-9 gene polymorphisms and ischemic stroke

Objective Objective TO investigate the potential association between matrix metalloproteinase-9 (MMP-9) gene polymorphisms and risk of ischemic stroke in Western Guangdong population.Methods This hospitalbased case-control study recruited 251 patients with ischemic stroke and 96 controls.Using Multiplex SNaPshot method was used to detect the genotype of MMP-9 gene rs3787268、rs3918241 and rs3918242 polymorphisms.The association between MMP-9 gene polymorphisms and risk of ischemic stroke was analyzed.Results ① There were significant differences in the genotype distribution of rs3787268 between ischemic stroke group and the controls (P=0.042).In the recessive model,the individual risk of A/A genotype was higher (OR=2.21,P=0.046) than that of the G/G+G/A genotype.② Compared with the controls,the genotype and allele distribution of rs3918242 in the ischemic stroke group were significantly different (P=0.007,P=0.038).In the dominant model,the risk of individuals carrying the T genotype was significantly elevated (OR=2.14,P=0.009) compared with individuals with the C/C genotype.③ The genotype distribution of rs3787268 polymorphisms in the LAA but not in no-LAA subgroup was significantly different from that in the controls (P =0.039).The genotype distribution and allele frequency of rs3918242 polymorphisms in the LAA subgroup were significantly different from that of the control group (P=0.009,P=0.047).There was no significant difference in the genotype distribution and allele frequency between no-LAA subtype and the control group.Conclusions The MMP-9 gene rs3918242 and rs3787268 polymorphisms may be the risk factors of ischemic stroke in Han population in the western part of Guangdong province,China.The MMP-9 gene rs3918242 and rs3787268 polymorphisms may be the risk factors of large-artery atherosclerotic stroke.