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Association of the apolipoprotein A-IV codon 360 mutation in patients with Alzheimer's disease.

机译:阿尔茨海默氏病患者载脂蛋白A-IV密码子360突变的关联。

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摘要

Specific apolipoprotein E (apoE) alleles determines, in large part, the risk and mean age of onset familial and sporadic Alzheimer disease. The unresolved issues in this relationship support the contribution of other environmental and genetic parts. Among the candidates the apolipoprotein A-IV (apoA-IV) a component of plasma lipid particles similar to apoE has been suggested to play a role in brain metabolism. Since apoA-IV has a common DNA based protein polymorphism with a different function we determined apoA-IV (360:Gln:His) DNA polymorphism in 63 late-onset sporadic Alzheimer's patients. We found that the APOA-IV (360:His) heterozygosity occurs significantly more frequent (20.6% vs. 7.0%, P = 0.021, odds ratio 3.4 (confidence interval 1.1-10.2)) comparing age-matched controls with normal mental score. The significant difference in apoA-IV allelic distribution has been detected dominantly in patients with non-apoE4 genotype. Our data indicate that the apoA-IV-2 allele may confer one of the susceptibility markers for Alzheimer's disease (AD) and strengthen the polygenic risk determination of the variability in expression of AD.
机译:特定的载脂蛋白E(apoE)等位基因在很大程度上决定了家族性和偶发性阿尔茨海默病发病的风险和平均年龄。这种关系中尚未解决的问题支持了其他环境和遗传部分的贡献。在候选物中,载脂蛋白A-IV(apoA-IV)是一种类似于apoE的血浆脂质颗粒的成分,已被认为在脑代谢中起作用。由于apoA-IV具有常见的基于DNA的蛋白质多态性,但功能不同,因此我们确定了63位晚发性散发性阿尔茨海默氏病患者的apoA-IV(360:Gln:His)DNA多态性。我们发现,与年龄匹配的对照组和正常智力评分相比,APOA-IV(360:His)杂合性的发生率显着更高(20.6%比7.0%,P = 0.021,优势比3.4(置信区间1.1-10.2))。在非apoE4基因型患者中,主要检测到apoA-IV等位基因分布的显着差异。我们的数据表明,apoA-IV-2等位基因可能赋予阿尔茨海默氏病(AD)的易感性标志之一,并加强了AD表达变异性的多基因风险测定。

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