中国汉族人群高血压脑出血患者NFATC1基因rs754093多态性观察

NFATC1 gene rs754093 polymorphism associated with hypertensive cerebral hemorrhage in Han population of China

目的观察中国汉族人群高血压脑出血患者活化T细胞核因子1(NFATC1)基因rs754093的多态性。方法选择中国汉族人脑出血患者230例(观察组)和健康体检者233例(对照组),采用多聚酶链反应—限制性内切酶片段长度多态性技术(PCR-RFLP)检测其血清中NFATC1基因rs754093的多态性。结果观察组基因型T/T、T/G、G/G及等位基因T、G的频率分别为34.1%、48.3%、17.4%、58.5%、41.5%,对照组分别为44.2%、44.6%、11.2%、66.5%、33.5%,两组比较,P均<0.05。分析显示,相对于携带TT基因型者,携带GG+TG基因型者脑出血发病风险增加51.4%;相对于携带T等位基因,携带G等位基因脑出血发病风险增加41.1%。结论中国汉族人群高血压脑出血患者NFATC1基因rs754093存在多态性,其中携带G/G基因型者易发生脑出血。

Objective To investigate NFATC1 gene rs754093 polymorphism associated with hypertensive cerebral hemorrhage in Han population of China. Methods The subject of observe group were consecutively recruited from northern China region patients with a total of 230 cases. The controls were health people with a total of 233 cases. The snp rs754093 of NFATC1 was genotyped by PCR-RFLP. Results THE observe group T / T, T / G ,G/G genotype frequencies and T,G allele frequencies were 34. 1% ,48.3%, 17.4% ,58.5% ,41.5% separately, the controls group were 44.2% ,44.6%, 11.2% ,66.5 % ,33.5% separately. There was significam difference between two groups （ P 〈 0.05 ）. Comparing with TT genotype , the GG ＋ TG genotype could increase 51. 4% of the risk of cerebral hemorrhage. Compare with T allele the G allele can increase 41.1% of the risk of cerebral hemorrhage,. Conclusions NFATC1 gene rs754093 polymorphism is associated with hypertensive cerebral hemorrhage in Han population of China. The G / G genotype is the independent risk factor of cerebral hemorrhage in Han population of China.