转化生长因子β1及其受体的单核苷酸多态性对脑动静脉畸形患者脑出血风险的影响

Effects of transforming growth factorβ1 and its receptorS2 gene single nucleotide polymorphisms on risk of intracranial hemorrhage in patients with brain arteriovenous malformation

目的探讨转化生长因子β1（TGFβ1）及其受体（TGFβR2）的单核苷酸多态性对脑动静脉畸形患者脑出血风险的影响。方法脑动静脉畸形患者53例，性别不限，年龄18—64岁，中国南方广东籍，汉族，彼此无血缘关系，根据是否合并脑出血，分为未出血组（n=23）和出血组（n=30）。采集静脉血样，抗凝，提取DNA。采用聚合酶链反应限制性片段长度多态性技术测定TGFβ1基因CT多态性位点rs1800469（位于上游509bp处）及TGFβR2基因AG多态性位点rs3087465（位于上游875bp处）的类型及频率，将组间差异有统计学意义的基因类型和频率进行logistic回归分析。结果与未出血组比较，出血组TGFβR2基因的G基因频率升高（P〈0．05），TGFβ1即，基因的类型及频率差异无统计学意义（P〉0．05）。logistic回归分析结果表明，TGFβR2基因的G基因是脑动静脉畸形患者脑出血的危险因素（P〈0．01），相对危险度为3．312（95％可信区间1．476～7．624）。结论脑动静脉畸形患者脑出血的风险与TGFβR2的G基因有关，而TGFβ1单核苷酸多态性对脑动静脉畸形患者脑出血风险无影响。

Objective To investigate the effects of transforming growth factorβ1 （TGFβ1） and its receptorβ2（TGFβR2） gene single nucleotide polymorphisms on the risk of intracranial hemorrhage in patients with brain arte- riovenous malformation （BAVM） .Methods Fifty-three BAVM patients of both sexes aged 18-64 yr who were ge- netically unrelated native HAN of Guangdong province were divided into 2 groups： patients with and without in- tracranial hemorrhage （ n = 30： 23）. Venous blood samples were collected and anti-coagulated with ethylene diami- netetraacetic acid for genomic DNA extraction. TGFβ1 -509C/T （rs1800469） and TGFβR2 875A/G （ rs3087465 ） gene SNPs were genotyped by using PCR-RFLP. Results There were no significant differences in genotype and frequency between the 2 groups. The G carrier frequency of the TGFβR2 genotype was significantly higher in patients with intracranial hemorrhage than in patients without intracranial hemorrhage. The G cartier of the TGFβR2 genotype was associated with intrarcranial hemorrhage in patients with BAVM. Conclusion TGFβ1 gene polymorphism is not relevant to the intracranial hemorrhage in patients with BAVM, but polymorphisms of TGFβR2 could be a risk factor.