Wang J-J, Jiang L-Q, He B, Shi K-L, Li J-W, Zou L-P
Department of Neurology, Beijing Children's Hospital, The Capital Medical University, Beijing, China.
Int J Immunogenet. 2009 Apr;36(2):113-8. doi: 10.1111/j.1744-313X.2009.00833.x.
Autoimmune vasculitis is believed to be a critical factor in the development of idiopathic childhood ischemic stroke. The association of polymorphisms in CTLA-4 and CD28 with some immune vasculitides, such as systemic lupus erythematosus (SLE) and Behçet's disease has been reported. The aim of the present study is to investigate the association of the genetic variants in the CTLA-4 and CD28 genes of children who suffered idiopathic ischemic stroke using a case-control design. Two single nucleotide polymorphisms (SNPs) in the CTLA-4 gene and an SNP in the CD28 gene were genotyped in 51 patients who suffered idiopathic ischemic stroke, and in 74 healthy controls from mainland China. An SNP, CTLA-4+49A/G located in exon 1 of the CTLA-4 gene, showed nominal association with the disease (P = 0.012, odds ratio (OR) = 2.09, 95% confidence interval (CI) = 1.17-3.73) using allele-based analysis. Homozygous carriers of the G allele of this SNP were more common in the patients than in the controls (P = 0.008). The CD28IVS3 +17TT genotype was found to be more common in the patients than in the controls (P = 0.039, OR = 2.96, 95% CI = 1.02-8.58). No correlations of at-risk genotype (G/G) of CTLA-4+49A/G and genotype (T/T) of CD28+17T/C with the main clinical features of idiopathic childhood ischemic stroke were observed. The results suggest that polymorphisms in the CTLA-4 and CD28 genes may contribute to the increased risk of idiopathic ischemic stroke.
自身免疫性血管炎被认为是儿童特发性缺血性卒中发病的关键因素。已有报道称，CTLA-4和CD28基因多态性与一些免疫性血管炎相关，如系统性红斑狼疮（SLE）和白塞病。本研究旨在采用病例对照设计，调查患特发性缺血性卒中儿童的CTLA-4和CD28基因变异之间的关联。对51例患特发性缺血性卒中的患者以及74名来自中国大陆的健康对照者，进行了CTLA-4基因中的两个单核苷酸多态性（SNP）以及CD28基因中的一个SNP基因分型。使用基于等位基因的分析方法，位于CTLA-4基因外显子1的SNP CTLA-4+49A/G与疾病显示出名义上的关联（P = 0.012，优势比（OR）= 2.09，95%置信区间（CI）= 1.17 - 3.73）。该SNP的G等位基因纯合携带者在患者中比在对照中更常见（P = 0.008）。发现CD28IVS3 +17TT基因型在患者中比在对照中更常见（P = 0.039，OR = 2.96，95% CI = 1.02 - 8.58）。未观察到CTLA-4+49A/G的风险基因型（G/G）和CD28+17T/C的基因型（T/T）与儿童特发性缺血性卒中的主要临床特征之间存在相关性。结果表明，CTLA-4和CD28基因的多态性可能导致特发性缺血性卒中风险增加。
