三种基因SNP与BAVM易感及出血风险的相关性研究

目的探讨白细胞介素-17（IL-17A）、转化生长因子-β（TGF-β）及其受体（TGFRl32）的单核苷酸多态性（SNP）与脑动静脉畸形（BAVM）易感及出血风险的相关性。方法前瞻性收集BAVM患者外周血（n=53），健康对照人群来自体检中心（n=120）。采用聚合酶链反应．限制性片段长度多态性（PCR—RFLP）法，检测IL-17A-197G／A，TGF-β1—509C／T及TGFR-β2—875A／G基因的SNP特征，并做关联分析探讨以上基因SNP与BAVM易感及出血风险的相关性。结果BAVM组与对照组比较，IL-17A-197G／A和TGF-β1．509C／T基因型及基因频率分布上的差异无统计学意义（P〉O．05），TGFR-β2—875A／G基因型及基因频率分布差异有统计学意义（P〈0．05）；BAVM出血组IL-17A-197G／A的G／G基因型和TGFR-β2—875A／G的G基因频率明显高于未出血组（P〈O．05）。结论TGFR-β2．875A／G的G／G基因型可能是中国南方人群易感BAVM的危险因素．IL-17A-197G／A的G／G基因型可能与BAVM易破裂出血风险有关。

Correlation of single nucleotide polymorphisms of three genes and hemorrhage risk in patients with the BAVM

Objective To estimate the association of the SNPs of IL-17, TGF--β,and TGFRβ2 genes with the susceptivity and hemorrhage risk of BAVM. Methods 53 patients with BAVM and 120 cases of controls had been recruited. IL-17A -197 G/A,TGFIM-509 C/T,and TGFRβ2-875 A/G SNPs had been genetyped by using PCR-RFLP technique. The association of these SNPs with susceptivity and increasing ICH risk of BAVM was analyzed. Results Compared with the controls, IL-17A-197 G/A and TGFβ1-509 C/T SNPs were not associated with BAVM susceptivity（P〉O.05）, but TGFRβ2-875 A/G SNP was significantly correlated to the susceptivity of BAVM （P〈0.05）. The G/G genetype of IL-17A-197 G/A and the G carriers of TGFRβ2-875 A/G were associatied with the increase in ICH risk of BAVM （P〈 0.05）. Conclusions The G/G genetype of TGFRβ2-875 A/G may be the susceptible factor of BAVM in the population from South of China. The G/G genetype of IL-17A-197 G/A might be associated with the increase in ICH risk of BAVM patients.