PDF(Pubmed)
Abstract：
UNASSIGNED: Despite evidence for the role of genetic factors in stroke, only a small proportion of strokes have been clearly attributed to monogenic factors, due to phenotypic heterogeneity. The goal of this study was to determine whether a significant relationship exists between human galectin-7 gene LGALS7 promoter region polymorphisms and the risk of stroke due to non-traumatic intracerebral hemorrhage (ICH).
UNASSIGNED: This two-stage genetic association study included an initial exploratory stage followed by a discovery stage. During the exploratory stage, transgenic galectin-7 mice or transgenic mice with the scrambled sequence of the hairpin structure -silenced down gene LGALS7-were generated and then expressed differentially expressed proteins and galectin-7-interacting proteins were identified through proteomic analysis. During the discovery stage, a single-nucleotide polymorphism (SNP) genotyping approach was used to determine associations between 2 LGALS7 SNPs and ICH stroke risk for a cohort of 24 patients with stroke of the Chinese Han population and 70 controls.
UNASSIGNED: During the exploratory phase, LGALS7 expression was found to be decreased in TGLGALS-DOWN mice as compared to its expression in TGLGALS mice. During the discovery phase, analysis of LGALS7 sequences of 24 non-traumatic ICH cases and 70 controls led to the identification of 2 ICH susceptibility loci: a genomic region on 19q13.2 containing two LGALS7 SNPs, rs567785577 and rs138945880, whereby the A allele of rs567785577 and the T allele of rs138945880 were associated with greater risk of contracting ICH [for T and A vs. C and G, unadjusted odds ratio (OR) = 13.5; 95% CI = 2.249-146.5; p = 0.002]. This is the first study to genotype the galectin-7 promoter in patients with hemorrhagic stroke. Genotype and allele association tests and preliminary analysis of patients with stroke revealed that a single locus may be a genetic risk factor for hemorrhagic stroke.
UNASSIGNED: A and T alleles of two novel SNP loci of 19q13.2, rs567785577 and rs138945880, respectively, were evaluated for associations with susceptibility to ICH. Further studies with expanded case numbers that include subjects of other ethnic populations are needed to elucidate mechanisms underlying associations between these SNPs and ICH risk.
UNASSIGNED: This two-stage genetic association study included an initial exploratory stage followed by a discovery stage. During the exploratory stage, transgenic galectin-7 mice or transgenic mice with the scrambled sequence of the hairpin structure -silenced down gene LGALS7-were generated and then expressed differentially expressed proteins and galectin-7-interacting proteins were identified through proteomic analysis. During the discovery stage, a single-nucleotide polymorphism (SNP) genotyping approach was used to determine associations between 2 LGALS7 SNPs and ICH stroke risk for a cohort of 24 patients with stroke of the Chinese Han population and 70 controls.
UNASSIGNED: During the exploratory phase, LGALS7 expression was found to be decreased in TGLGALS-DOWN mice as compared to its expression in TGLGALS mice. During the discovery phase, analysis of LGALS7 sequences of 24 non-traumatic ICH cases and 70 controls led to the identification of 2 ICH susceptibility loci: a genomic region on 19q13.2 containing two LGALS7 SNPs, rs567785577 and rs138945880, whereby the A allele of rs567785577 and the T allele of rs138945880 were associated with greater risk of contracting ICH [for T and A vs. C and G, unadjusted odds ratio (OR) = 13.5; 95% CI = 2.249-146.5; p = 0.002]. This is the first study to genotype the galectin-7 promoter in patients with hemorrhagic stroke. Genotype and allele association tests and preliminary analysis of patients with stroke revealed that a single locus may be a genetic risk factor for hemorrhagic stroke.
UNASSIGNED: A and T alleles of two novel SNP loci of 19q13.2, rs567785577 and rs138945880, respectively, were evaluated for associations with susceptibility to ICH. Further studies with expanded case numbers that include subjects of other ethnic populations are needed to elucidate mechanisms underlying associations between these SNPs and ICH risk.
摘要：
未经证实：尽管有证据表明遗传因素在卒中的作用，只有一小部分中风被明确归因于单基因因素，由于表型异质性。这项研究的目的是确定人galectin-7基因LGALS7启动子区多态性与非创伤性脑出血（ICH）引起的中风风险之间是否存在显着关系。
UNASSIGNED：这项两阶段遗传关联研究包括一个初始探索阶段，然后是一个发现阶段。在探索阶段,产生转基因galectin-7小鼠或具有发夹结构的乱序序列的转基因小鼠-沉默的down基因LGALS7-，然后表达差异表达蛋白，并通过蛋白质组学分析鉴定galectin-7相互作用蛋白。在发现阶段,本研究采用单核苷酸多态性(SNP)基因分型方法,对24例中国汉族人群卒中患者和70例对照人群进行研究,确定2个LGALS7SNP与ICH卒中风险之间的相关性.
未经批准：在探索阶段，发现与在TGLGALS小鼠中的表达相比,在TGLGALS-DOWN小鼠中的LGALS7表达降低。在发现阶段,对24例非创伤性ICH病例和70例对照的LGALS7序列的分析导致2个ICH易感性基因座的鉴定：19q13.2上的基因组区域包含两个LGALS7SNP，rs567785577和rs138945880，其中rs567785577的A等位基因和rs138945880的T等位基因与感染ICH的更大风险相关[对于T和Avs.C和G,未调整比值比(OR)=13.5；95%CI=2.249-146.5；p=0.002]。这是首次对出血性中风患者的galectin-7启动子进行基因分型的研究。基因型和等位基因关联测试以及对中风患者的初步分析显示，单个基因座可能是出血性中风的遗传危险因素。
UNASSIGNED：19q13.2的两个新SNP基因座的A和T等位基因，分别为rs567785577和rs138945880，评估了与ICH易感性的关联。需要进一步研究扩大的病例数，包括其他种族人群的受试者，以阐明这些SNP与ICH风险之间的潜在关联机制。
UNASSIGNED：这项两阶段遗传关联研究包括一个初始探索阶段，然后是一个发现阶段。在探索阶段,产生转基因galectin-7小鼠或具有发夹结构的乱序序列的转基因小鼠-沉默的down基因LGALS7-，然后表达差异表达蛋白，并通过蛋白质组学分析鉴定galectin-7相互作用蛋白。在发现阶段,本研究采用单核苷酸多态性(SNP)基因分型方法,对24例中国汉族人群卒中患者和70例对照人群进行研究,确定2个LGALS7SNP与ICH卒中风险之间的相关性.
未经批准：在探索阶段，发现与在TGLGALS小鼠中的表达相比,在TGLGALS-DOWN小鼠中的LGALS7表达降低。在发现阶段,对24例非创伤性ICH病例和70例对照的LGALS7序列的分析导致2个ICH易感性基因座的鉴定：19q13.2上的基因组区域包含两个LGALS7SNP，rs567785577和rs138945880，其中rs567785577的A等位基因和rs138945880的T等位基因与感染ICH的更大风险相关[对于T和Avs.C和G,未调整比值比(OR)=13.5；95%CI=2.249-146.5；p=0.002]。这是首次对出血性中风患者的galectin-7启动子进行基因分型的研究。基因型和等位基因关联测试以及对中风患者的初步分析显示，单个基因座可能是出血性中风的遗传危险因素。
UNASSIGNED：19q13.2的两个新SNP基因座的A和T等位基因，分别为rs567785577和rs138945880，评估了与ICH易感性的关联。需要进一步研究扩大的病例数，包括其他种族人群的受试者，以阐明这些SNP与ICH风险之间的潜在关联机制。
