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SELP 和 PSGL-1 基因型和单倍型对突尼斯人心血管疾病发生的影响。

Contribution of SELP and PSGL-1 genotypes and haplotypes to the presence of coronary heart disease in Tunisians.

机构信息

Research Unit of Biology and Genetics of Cancer, Haematological and Autoimmune Diseases, Monastir, 5000, Tunisia.

出版信息

Mol Biol Rep. 2011 Jan;38(1):495-501. doi: 10.1007/s11033-010-0133-z. Epub 2010 Apr 8.

DOI:10.1007/s11033-010-0133-z
PMID:20376705
Abstract

P-selectin (SELP) and its counter-receptor, P-selectin glycoprotein ligand-1 (PSGL-1), play key role in the transient attachment of leukocytes to endothelial cells predisposing to coronary heart disease (CHD). In the current report, 293 angiographically proven CHD patients and 327 age, gender, and race-matched controls were included. Our aim was to evaluate the contribution to CHD of the following SNPs: C-2123G, G-1969A and T715P in SELP, Met62Ile and the VNTR variants in PSGL-1 gene in a North African population from Tunisia. While there were no significant differences in the distribution of SELP or PSGL-1 alleles or genotypes between patients and controls, a trend for a significant association of the C-2123G genotypes distribution with incident CHD was observed (P=0.06). Assuming an additive model of transmission, the risk was 74% higher among subjects carrying the GG genotypes in comparison to those carrying the CC genotype (OR=1.74 [1.01-2.98], P=0.04) and 80% higher in the recessive model (OR=1.80 [1.08-3.01], P=0.02). Haplotype analysis did not identify any specific SELP or PSGL-1 haplotypes to be associated with CHD. The present study demonstrated no evidence of association between individual SELP or PSGL-1 SNPs or haplotypes with incident CHD. However, this study replicates absence of association of the mostly studied SNP, T715P, previously reported in individuals with African origin.

摘要

选择素(SELP)及其受体,选择素糖蛋白配体-1(PSGL-1),在白细胞与内皮细胞的短暂附着中起关键作用,从而导致冠心病(CHD)。在目前的报告中,纳入了 293 例经血管造影证实的 CHD 患者和 327 名年龄、性别和种族匹配的对照者。我们的目的是评估以下 SNP 在北非突尼斯人群中的 CHD 中的作用:SELP 中的 C-2123G、G-1969A 和 T715P,PSGL-1 基因中的 Met62Ile 和 VNTR 变体。虽然患者和对照组之间 SELP 或 PSGL-1 等位基因或基因型的分布没有显著差异,但观察到 C-2123G 基因型分布与 CHD 事件之间存在显著关联的趋势(P=0.06)。假设遗传传递的加性模型,与携带 CC 基因型的受试者相比,携带 GG 基因型的受试者的风险增加了 74%(OR=1.74 [1.01-2.98],P=0.04),在隐性模型中风险增加了 80%(OR=1.80 [1.08-3.01],P=0.02)。单体型分析未鉴定出任何与 CHD 相关的特定 SELP 或 PSGL-1 单体型。本研究表明,个体 SELP 或 PSGL-1 SNP 或单体型与 CHD 之间没有关联的证据。然而,这项研究复制了以前在非洲裔个体中报道的研究最多的 SNP,T715P,与 CHD 无关。

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本文引用的文献

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Butyrylcholinesterase K variant and the APOE-epsilon 4 allele work in synergy to increase the risk of coronary artery disease especially in diabetic patients.丁酰胆碱酯酶 K 变体和 APOE-epsilon 4 等位基因协同作用增加冠心病的风险,尤其在糖尿病患者中。
Mol Biol Rep. 2010 Apr;37(4):2083-91. doi: 10.1007/s11033-009-9666-4. Epub 2009 Aug 15.
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PLoS One. 2014 Feb 3;9(2):e88152. doi: 10.1371/journal.pone.0088152. eCollection 2014.
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