Ghazouani Lakhdar, Abboud Nesrine, Khlifa Sonia Bel-Hadj, Perret Claire, Nicaud Viviane, Cambien François, Almawi Wassim Y, Mahjoub Touhami
Research unit of Biology and Genetics of Cancer, Haematological and Autoimmune Diseases, Faculty of Pharmacy of Monastir, Monastir University, Monastir, Tunisia.
J Thromb Thrombolysis. 2009 Oct;28(3):314-9. doi: 10.1007/s11239-008-0297-8. Epub 2008 Dec 11.
P-selectin plays a key role in inflammation and atherosclerosis, and polymorphic variants of P-selectin were implicated in the pathogenesis of atherosclerotic and inflammatory changes, including coronary heart disease (CHD) in many ethnic groups. We investigated the contribution of P-selectin promoter (-2123C/G, -1969G/A) and exon (Ser290Asn, Asn562Asp, Thr715Pro) polymorphisms to CHD genetic susceptibility among 298 Tunisian CHD patients and 339 controls. Minor allele and genotype frequencies of the five P-selectin SNPs were comparable between patients and controls, except for -2123G/G genotype which was more frequent in cases. The 715Pro allele was present at lower frequency in Tunisians than in Europeans, and was not protective of CHD. Linkage disequilibrium was seen between -1969G/A, and both Ser290Asn and Asn562Asp. Five-loci haplotype analysis did not identify any CHD-protective or CHD-susceptible haplotypes. To our knowledge, this was the first case-control study to be performed on an Arab/North-African population, and demonstrates that none of the five P-selectin polymorphisms investigated influence CHD susceptibility in Tunisian Arabs.
P选择素在炎症和动脉粥样硬化中起关键作用，P选择素的多态性变体与包括许多种族的冠心病（CHD）在内的动脉粥样硬化和炎症变化的发病机制有关。我们在298名突尼斯冠心病患者和339名对照中研究了P选择素启动子（-2123C/G，-1969G/A）和外显子（Ser290Asn、Asn562Asp、Thr715Pro）多态性对冠心病遗传易感性的影响。除-2123G/G基因型在病例中更常见外，患者和对照之间五个P选择素单核苷酸多态性（SNP）的次要等位基因和基因型频率相当。715Pro等位基因在突尼斯人中的频率低于欧洲人，且对冠心病无保护作用。在-1969G/A与Ser290Asn和Asn562Asp之间均存在连锁不平衡。五位点单倍型分析未发现任何冠心病保护性或冠心病易感性单倍型。据我们所知，这是首次在阿拉伯/北非人群中进行的病例对照研究，表明所研究的五个P选择素多态性均不影响突尼斯阿拉伯人对冠心病的易感性。
