基质金属蛋白酶基因多态性与中国汉族人群急性缺血性脑卒中相关。
Polymorphisms of the Matrix Metalloproteinase Genes are Associated with Acute Ischemic Stroke in Chinese Han Population.
作者信息
Li Aifan, Han Tianyi, Li Yongfang, Yang Gaiqing, Zhang Yuchao, Huang Yanyang, Zhou Baixue, Song Guoying, He Ying
机构信息
Department of Neurology, The First People's Hospital of Zhengzhou, Zhengzhou, 450000, People's Republic of China.
Department of Medical Genetics and Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, 450001, People's Republic of China.
出版信息
Int J Gen Med. 2023 Feb 20;16:619-629. doi: 10.2147/IJGM.S395416. eCollection 2023.
BACKGROUND AND PURPOSE
Studies have shown that matrix metalloproteinase (MMP-2,3,9) plays an important role in the pathologic process of ischemic stroke (IS). The aim of this study was to investigate the relationship between C1306T, 1612-5A/6A, C-1562T polymorphisms of -2,3,9 genes and IS in Chinese Han population.
METHODS
The polymorphisms of -2(C1306T), -3(1612-5A/6A), -9(C-1562T) gene were detected by PCR-RFLP and SNaPshot sequencing. Then, stratified analysis was used to study the relationship between IS subtypes and polymorphisms.
RESULTS
For the gene C1306T polymorphism, TT genotype and T allele were significantly associated with a reduced risk of IS ( = 0.015, = 0.003, respectively). T allele was significantly associated with a reduced risk of small artery occlusion (SAO) subtype compared with the control group ( = 0.012, OR = 0.550, 95% CI = 0.065-1.291). For the gene-1612 (5A/6A) polymorphism, 5A/5A genotype was significantly increased in the IS group ( = 0.011, OR = 0.370, 95% CI = 0.168-0.814), especially in the large-artery atherosclerosis (LAA) subtype ( = 0.001, OR = 2.345) as compared to the control group.
CONCLUSION
Our study suggested that the T allele of -2 may be a protective factor of IS, especially in SAO subtype, while the 5A/5A gene of -3 may increase the risk of IS, especially in LAA subtype in Chinese Han population.
背景与目的
研究表明，基质金属蛋白酶（MMP - 2、3、9）在缺血性脑卒中（IS）的病理过程中起重要作用。本研究旨在探讨汉族人群中MMP - 2、3、9基因的C1306T、1612 - 5A/6A、C - 1562T多态性与IS的关系。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR - RFLP）和SNaPshot测序法检测MMP - 2（C1306T）、MMP - 3（1612 - 5A/6A）、MMP - 9（C - 1562T）基因的多态性。然后，采用分层分析研究IS亚型与多态性之间的关系。
结果
对于MMP - 2基因C1306T多态性，TT基因型和T等位基因与IS风险降低显著相关（分别为P = 0.015，P = 0.003）。与对照组相比，T等位基因与小动脉闭塞（SAO）亚型风险降低显著相关（P = 0.012，OR = 0.550，95%CI = 0.065 - 1.291）。对于MMP - 3基因1612（5A/6A）多态性，IS组中5A/5A基因型显著增加（P = 0.011，OR = 0.370，95%CI = 0.168 - 0.814），与对照组相比，在大动脉粥样硬化（LAA）亚型中尤为明显（P = 0.001，OR = 2.345）。
结论
我们的研究表明，MMP - 2的T等位基因可能是IS的保护因素，尤其是在SAO亚型中，而MMP - 3的5A/5A基因可能增加IS风险，尤其是在汉族人群的LAA亚型中。
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