组织型激肽释放酶基因多态性与长沙地区汉族人群脑出血的关联研究

目的 分析长沙地区汉族人群脑出血与组织型激肽释放酶(kallikrein 1,KLK1)基因多态性的关系.方法 收集273例散发性脑出血患者和140名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分型技术和DNA测序法检测KLK1基因rs5516及rs5517多态性位点在两组人群中的分布.结果 (1)脑出血组及对照组KLK1基因rs5516多态和等位基因频率分布差异无统计学意义(P>0.05);脑出血组组织型KLK1基因rs5517多态A等位基因频率显著高于对照组(P<0.05).(2)对照组rs5517多态AA及GA基因型携带者舒张压水平显著高于GG基因型携带者(P<0.05);而rs5516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 组织型激肽释放酶基因rs5516多态性与脑出血无关,而组织型激肽释放酶基因rs5517多态性与脑出血存在关联,可能通过影响血压水平而参与脑出血的发生发展.

Association of single nucleotide polymorphisms of kallikrein 1 gene with cerebral hemorrhage in Changsha Han Chinese

Objective To explore the association between single nucleotide polymorphisms (SNPs) of KLK1 gene and cerebral hemorrhage in Changsha Han Chinese. Methods Two hundred and seventy three cerebral hemorrhage (CH) patients and 140 healthy controls were collected. The SNPs of rs5516 and rs5517 loci of KLK1 gene were analyzed by SNaPshot methods and direct sequencing. Results (1) Genotype and allele frequencies in rs5516 locus had no difference between the CH patients and controls (P>0. 05). However, the A allele frequency of the rs5517 locus in CH patients was higher than that in the control group (0. 419, 0. 321 respectively, P<0. 05). (2)In the control group,the levels of diastolic blood pressure (DBP) of the GA and AA genotype carriers of the rs5517 locus were significantly higher than those of the GG genotype (P<0. 05), while the levels of blood pressure were not significantly different among different genotypes of the rs5516 polymorphism in both CH patients and the control group(P>0. 05). Conclusion Author's preliminary results suggested that the rs5517 polymorphism was associated with cerebral hemorrhage, while the rs5516 polymorphism was not in Changsha Han Chinese.