P-selectin基因是高度多态:减少频率Pro715等位基因携带者的心肌梗死患者。
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赫曼SM Ricard年代,Nicaud V,锤C,埃文斯,Ruidavets JB, Arveiler D,吕克·G, Cambien F
P-selectin基因是高度多态:减少频率Pro715等位基因携带者的心肌梗死患者。
哼摩尔麝猫。1998年8月,7 (8):1277 - 84。
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9668170 (在PubMed]
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P-selectin粘附分子,激活细胞表面的表达,调节激活内皮细胞之间的相互作用或血小板和白细胞。在动脉粥样硬化斑块P-selectin表达增加,高血浆水平的分子曾被观察到在不稳定性心绞痛患者。我们调查了P-selectin基因作为心肌梗死(MI)的可能的候选人。1 q21-q24 P-selectin基因位于染色体上,横跨> 50 kb和包含17个外显子。5 '侧翼区域的序列和MI患者40等位基因的外显子多态性筛查使用聚合酶链反应/单链构象多态性(PCR-SSCP)和测序。十三个多态性确定:5 5’侧翼和8的其实。四个多态性(Ser290Asn、Asn562Asp Leu599Val和Thr715Pro)预测的氨基酸序列的改变P-selectin蛋白质。所有P-selectin多态性以及一个共同的E-selectin多态性,Ser128Arg已报道作为与早产风险增加有关冠心病(CHD),并与几个P-selectin多态性紧密连锁不平衡,是647年调查MI患者和758名对照组来自法国和北爱尔兰四个地区(ECTIM研究)。整个组P-selectin多态性提供91%的杂合性。多态性是彼此紧密相关并显示模式的连锁不平衡建议高度保守的祖传的单体型的存在。 The five polymorphisms in the 5'-flanking region of the gene were unrelated to MI or any relevant phenotype measured in the ECTIM study. We inferred that the four missense variants identified in the coding region predicted eight common forms of the P-selectin protein. The Pro715 allele which characterizes one of these forms was less frequent in France than in Northern Ireland ( P < 0.002) and in cases than in controls ( P < 0.002; P < 0.02 after correction for the number of tests). We conclude that the P-selectin gene is highly polymorphic and hypothesize that the Pro715 variant may be protective for MI. Whether this variant affects the properties of the P-selectin protein in a way which is compatible with this hypothesis needs to be checked experimentally.