Susceptible gene single nucleotide polymorphism and hemorrhage risk in patients with brain arteriovenous malformation

被引：13

作者：

Jiang, Nan ^{[2
]}

Li, Xuesong ^{[1
]}

Qi, Tiewei ^{[2
]}

Guo, Shaolei ^{[1
]}

Liang, Feng ^{[1
]}

Huang, Zhengsong ^{[1
]}

机构：

[1] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurosurg, Guangzhou 510080, Guangdong, Peoples R China

[2] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Anesthesiol, Guangzhou 510080, Guangdong, Peoples R China

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2011年 / 18卷 / 09期

关键词：

Brain arteriovenous malformation; Hemorrhage risk; Single nucleotide polymorphism; GROWTH-FACTOR-BETA; INTERLEUKIN-17; ACTIVATION; ISCHEMIA;

D O I：

10.1016/j.jocn.2011.02.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor beta (TGF-beta), as well as its receptor (TGFR-beta 2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study. A total of 53 patients with BAVM and 120 healthy controls were recruited, all of whom were Han Chinese from South China. There were no statistically significant differences in the IL-17A-197 guanine/adenine (G/A) or TGF-beta 1-509 cytosine/thymine (C/T) genotypes or gene frequencies between BAVM patients and controls (p > 0.05), but the gene frequency of the TGER-beta 2-875 A/G genotype in patients with BAVM was significantly higher (p < 0.05). Furthermore, the frequencies of the G allele of IL-17A-197 G/A and TGFR-beta 2-875 A/G in BAVM patients with hemorrhage were higher than those without hemorrhage. TGFR-beta 2-875 G/G genotype is a risk factor for BAVM, and the IL-17A-197 G/A and TGFR-beta 2-875 A/G genotype is closely related to hemorrhage risk for patients with BAVM. (C) 2011 Elsevier Ltd. All rights reserved.

引用

页码：1279 / 1281

页数：3

共 10 条

[1] Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT):: Correlation of genotype with phenotype [J].