高血压合并主动脉夹层基质金属蛋白酶9基因-1562C/T多态性

目的探讨高血压病合并主动脉夹层患者基质金属蛋白酶9（MMP-9）基因一1562C／T基因多态性与临床表现的关系。方法对高血压病合并主动脉夹层患者及高血压病患者用酚一氯仿法提取外周血基因组DNA,PCR-限制性片段长度多态性法确定MMP-9基因一1562C／T基因型。结果（1）高血压病合并主动脉夹层患者中,MMP-9基因一1562T等位基因频率（17．6％）显著高于高血压病患者（11．2％,P〈0．05）,两组之间3种基因型（-1562CC、-1562CT、-1562Tr）分布差异无统计学意义（P〉0．05）。（2）与-1562CC基因型相比,基因型为-1562CT／TT的主动脉夹层患者累及升主动脉更多见（OR=2．063,95％CI=0．998～4．264,P=0．049）。结论MMP-9基因-1562T多态性与中国汉族人群高血压病并主动脉夹层的发病可能相关,T等位基因可能是高血压病并发主动脉夹层的遗传易感因素之一;携带MMP-9基因-1562T等位基因的高血压病合并主动脉夹层患者更多累及升主动脉,影响预后。

MMP-9 gene -1562C/T polymorphism in aortic dissection in Chinese hypertensive patients

Objective To investigate the association of matrix metalloproteinase 9 (MMP-9) gene -1562C/T polymorphism with the pathogenesis and site involved range of aortic dissection in Chinese population. Methods 142 hypertensive patients with aortic dissection and 130 hypertensive patients without aortic dissection were enrolled. Genomic DNAs were extracted from peripheral blood leucocytes. MMP-9 gene -1562C/T polymorphism was determined with PCR-RFLP. MMP-9 gene -1562C/T genotype and allele frequency were compared between hypertensive patients with aortic dissection and without. In addition, associations of MMP-9 gene -1562C/T polymorphism with clinical aspects were analyzed in hypertensive patients with aortic dissection. Results There was a significant difference in the T allele frequency of the C-1562T MMP-9 polymorphism between the two groups, with more T allele (17.6%) observed in hypertensive patients with aortic dissection as compared with these without (11.2%) (P=0.033). The genotype distribution for the MMP-9-1562C/T polymorphism in hypertensive patients with aortic dissection (-1562CC: 69.0%;-1562CT:26.8%;-1562TT:4.2%) and those without (-1562CC:79.2%; -1562CT:19.2%; -1562TT:1.6%; P=0.118) showed no remarkable difference, but hypertensive patients with aortic dissection possessing T allele showed a higher odds ratio for involving ascending aorta (OR=2.063,95%CI=0.998-4.264,P=0.049)as compared with those without T allele. Conclusions The T variant of MMP-9 gene -1562C/T polymorphism was significantly associated with aortic dissection in hypertensive patients and may represent an important genetic component contributing to aortic dissection susceptibility. Furthermore, hypertensive patients with aortic dissection possessing MMP-9 gene-1562T allele are more prone to involvement of ascending aorta.