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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(TGFRβ2)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,TGFβ1-509C/T及TGFRβ2-875A/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TGFβ1-509C/T基因型及基因频率分布上的差异无统计学意义(P>0.05),TGFRβ2-875A/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TGFRβ2-875A/G的G基因频率明显高于未出血组(P<0.05)。结论 TGFRβ2-875A/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。
Objective To investigate the association between single nucleotide polymorphisms (SNPs) of interleukin-17 (IL-17A), transforming growth factor-β (TGF-β) and their receptors (TGFRβ2) and cerebral arteriovenous malformation Sense of bleeding and the relevance of the risk. Methods We prospectively collected peripheral blood from patients with BAVM (n = 53) and healthy controls from the physical examination center (n = 120). The SNPs of IL-17A-197G / A, TGFβ1-509C / T and TGFRβ2-875A / G were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Correlation of SNP and susceptibility to BAVM with bleeding risk. Results There was no significant difference in genotype and frequency of IL-17A-197G / A and TGFβ1-509C / T between BAVM group and control group (P> 0.05). TGFRβ2-875A / G genotype and gene frequency (P <0.05). The G / G genotype of IL-17A-197G / A and the G gene of TGFRβ2-875A / G in BAVM hemorrhage group were significantly higher than those in non-hemorrhage group (P <0.05). Conclusion The G / G genotype of TGFRβ2-875A / G may be a risk factor for susceptibility to BAVM in southern China. The G / G genotype of IL-17A-197G / A may be related to the risk of BAVM rupture.