摘要
目的探索趋化因子受体CX3CR1基因单核苷酸多态(SNPs)与中国北方人群脑梗死发病的关系。方法不同类型的脑梗死患者563例及健康对照563例,周围静脉全血提取单个核细胞基因组DNA并行PCR分段扩增CX3CR1基因。抽取其中各200例进行CX3CR1基因测序,明确脑梗死组和对照组的SNP情况。两组剩下的各363例针对查到的SNP位点设计引物,将包含SNP位点的局部片段进行PCR及基因测序以检测SNP情况。结果发现研究人群有rs3732379(C→T)、rs3732378(G→A)、rs1050592(T→C)3个SNP位点。其中脑梗死组rs3732379位点T碱基及TT、TC基因型,rs3732378位点A碱基及AA、GA型,rs1050592位点C碱基及CC、TC型的频率均明显高于对照组。rs3732379、rs3732378、rs1050592间有显著的连锁不平衡,形成3种单倍型(按前述3个SNP的三座位碱基顺序,分别为T-A-C、T-G-C、C-G-T)及6种基因型。单倍型分析显示:单倍型T-A-C的频率与脑梗死的发病相关(OR=5.24,P=0.002)。结论在中国北方人群中,携带rs3732379位点T碱基及TT、TC型,rs3732378位点A碱基及AA、GA型,rs1050592位点C碱基及CC、TC型与脑梗死的发病相关,携带单倍型T-A-C是脑梗死发病的危险因素。
Objective To investigate the relationship between single neucleotide polymorphisms（SNPs）of CX3CR1 with mobidity rate of cerebral infarction in North China population. Methods 563 patients with cerebral infarction were compared with 563 healthy people, the former patients were called cerebral infarction group （CIG）and the latter were named healthy control group（HCG）. Peripheral mononuclear cells DNAs were extracted from all people in these 2 groups and pol- ymerase chain reactions（PCRs） were processed to magnify certain CX3CR1 DNA segments. 200 people from each group were examined by CX3CR1 DNA sequencing in order to clarify the single neucleotide polymorphisms（SNPs）. According to the above SNPs, primers were designed and the rest people of CIG and HCG were tested in certain DNA parts to show their SNPs by sequencing. Results There were 3 SNPs in these 2 study groups which were rs3732379 （ C→T）, rs3732378 （ G→ A） and rs1050592（T→C）. Among people of HCG, T allele and TT, TC genotype of rs3732379 were higher than those of CIG in frequencies. The same frequency incidence occurred for A allele,AA and GA genotype of rs3732378, for C allele, CC and TC genotype of rs1050592. There were obvious linkage disequilibrium （LD）among these 3 SNPs which built up 3 haplotypes（ T-A-C ,T-G-C and C-G-T）and 6 genotypes. Haplotype analysis indicated that T-A-C haplotype correlated with cerebral infarction（ OR = 5.24, P = 0. 002 ）. Conclusions In North China population, there were certain correlation between cerebral infarction and T allele, TF and TC genotype of rs3732379. The same correlation was discovered with rs3732378 A allele,AA and GA genotype,with rs1050592 C allele, CC and TC genotype. T-A-C haplotype is also an risk factor for cerebral infarction.
出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2012年第5期434-438,共5页
Journal of Apoplexy and Nervous Diseases
基金
沈阳市卫生局科研基金资助项目[沈卫办(2010)66号]
