KLK1基因rs3212855和rs5515多态性与长沙地区汉族人群脑出血的关联研究

Association between polymorphism of rs3212855 and rs5515 of KLK1 gene with cerebral hemorrhage in Changsha Han population

目的:分析长沙地区汉族人群脑出血与组织型激肽释放酶(tissue Kallikrein,KLK1)基因多态性的关系。方法:收集长沙地区汉族人群中273例散发性脑出血患者和140例正常对照者的外周血标本。采用多重单碱基延伸单核苷酸多态性(SNP)分型技术(Snapshot)和DNA测序法检测KLKI基因rs3212855及rs5515多态性位点在脑出血患者及正常人群中的分布情况。结果:在本研究样本中未能证实rs5515是多态性位点。脑出血组及对照组KLK1基因rs3212855多态性位点基因型分布和等位基因频率差异无统计学意义(P(0.05)。脑出血组rs3212855多态性位点各基因型亚组间血压水平差异无统计学意义(P(0.05);对照组rs3212855位点各基因型亚组间血压水平差异无统计学意义(P(0.05)。结论:KLK1基因rs3212855和rs5515位点与脑出血无关。

Objective To explore the association between single nucleotide polymorphism （SNPs） of KLK1 gene and cerebral hemorrhage in Changsha Han population. Methods We enrolled 273 patients with cerebral hemorrhage and 140 normal people. The SNPs （including rs3212855 and rs5515） of KLK1 gene were analyzed by Snapshot method and direct sequencing.Results We found rs5515 was not a polymorphic site in Changsha Han population. Genotype and allele frequency in rs3212855 were not different between patients with cerebral hemorrhage and the controls （P﹥0.05）. The blood pressure level was not different between the genotype subgroups. Conclusion Neither rs5515 nor rs3212855 is associated with cerebral hemorrhage.