转化生长因子β_1及转化生长因子β受体基因多态性与脑动静脉畸形患者脑出血的关系研究

Relationship between Gene Polymorphism of TGFβ_1,TGFβR_2 and Cerebral Hemorrhage in Patients with Intracranial Arteriovenous Malformations

目的探讨转化生长因子β_1(TGFβ_1)及转化生长因子β受体(TGFβR_2)基因多态性与脑动静脉畸形患者脑出血的关系。方法选取2012年4月—2015年4月延安大学附属医院收治的脑动静脉畸形患者106例,根据脑出血发生情况分为脑出血组46例与非脑出血组60例。采用聚合酶链反应限制性片段长度多态性技术(PCR-RFLP)检测TGFβ_1、TGFβR_2基因多态性,脑动静脉畸形患者脑出血发生风险的分析采用多因素logistic回归分析。结果两组患者TGFβ_1基因型及等位基因频率比较,差异无统计学意义(P>0.05)。两组患者TGFβR_2基因型比较,差异无统计学意义(P>0.05);脑出血组患者TGFβR_2基因G等位基因频率高于非脑出血组(P<0.05)。多因素logistic回归分析结果显示,携带TGFβR_2基因G等位基因的脑动静脉畸形患者脑出血发生风险是非携带者的3.312倍〔RR=3.312,95%CI(1.476,7.624),P<0.05〕。结论携带TGFβR_2基因G等位基因的脑动静脉畸形患者脑出血发生风险增高。

Objective To investigate the relationship between gene polymorphism of TGFβ1 ,TGFβR2 and cerebral hemorrhage in patients with intracranial arteriovenous malformations. Methods A total of 106 patients with intracranial arteriovenous malformations were selected in the Affiliated Hospital of Yan′an University from April 2012 to April 2015,and they were divided into A group( complicated with cerebral hemorrhage,n = 46) and B group( did not complicate with cerebral hemorrhage,n = 60)according to the incidence of cerebral hemorrhage. PCR-RFLP was used to detect the gene polymorphism of TGFβ1 and TGFβR2,and mutivariate logistic regression analysis was used to analyze the risk of cerebral hemorrhage in patients with intracranial arteriovenous malformations. Results No statistically significant differences of genotype or allele frequency of TGFβ1 was found between the two groups,nor was genotype of TGFβR2(P > 0. 05);while G allele frequency of TGFβR2 of A group was statistically significantly higher than that of B group(P < 0. 05). Mutivariate logistic regression analysis showed that, occurrence risk of cerebral hemorrhage of intracranial arteriovenous malformations patients with G allele of TGFβR2 was 3. 312 times of patients without G allele of TGFβR2〔RR = 3. 312,95% CI(1. 476,7. 624),P < 0. 05〕. Conclusion G allele of TGFβR2 can increase the occurrence risk of intracranial arteriovenous malformations, while it is not affected by gene polymorphism of TGFβ1 .