Effects of transforming growth factorβ1 and its receptorβ2 gene single nucleotide polymorphisms on risk of intracranial hemorrhage in patients with brain arteriovenous malformation

Objective T0 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 arteriovenous malformation (BAVM).Methods Fifty-three BAVM patients of both sexes aged 18-64 yr who were genetically unrelated native HAN of Guangdong province were divided into 2 groups:patients with and without intracranial hemorrhage ( n =30:23).Venous blood samples were collected and anti-coagulated with ethylene diaminetetraacetic 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 hemonrhage.The G carrier 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. Key words: Transforming growth factor β1; Receptors, transforming growth factor beta; Polymorphism, single nucleotide; Intracranial arteriovenous malformations; Cerebral hemorrhage