Presenilin-1 Gene Intronic Polymorphism and Late-onset Alzheimer's Disease
Presenilin-1 Gene Intronic Polymorphism and Late-onset Alzheimer's Disease
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DOI：
10.1177/0891988708324941
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发表时间：
2008-12-01
影响因子：
2.6
通讯作者：
Yilmazer, Selma
中科院分区：
文献类型：
--
作者：
Dursun, Erdinc;Gezen-Ak, Duygu;Yilmazer, Selma
早老素 -1已知与阿尔茨海默病的发病机制有关。早老素 -1基因的一个内含子多态性（rs165932）与迟发性阿尔茨海默病的关联已有文献记载。然而，在不同人群中出现了相互矛盾的结果。本研究的目的是确定在一组土耳其患者中，早老素 -1基因的内含子多态性与迟发性阿尔茨海默病之间是否存在关联。根据早老素 -1基因第8内含子中的BamH I限制酶切位点，对107名阿尔茨海默型痴呆患者和106名年龄匹配的对照者进行了基因分型。当比较对照组和患者组时，根据卡方检验，基因型和等位基因的分布没有显著差异（分别为P = 0.52，P = 0.32）。因此，我们的结果表明，在土耳其人群中，1/1基因型不会增加患迟发性阿尔茨海默病的风险。
Presenilin-1 is known to contribute to the pathogenesis of Alzheimer's disease. The association of an intronic polymorphism (rs165932) of the presenilin-1 gene with late-onset Alzheimer's disease has been documented. However, contradicting results have been shown in different populations. The aim of the current study is to determine whether there is an association between the intronic polymorphism of the presenilin-1 gene and late-onset Alzheimer's disease in a cohort of Turkish patients. One hundred and seven participants with dementia of the Alzheimer type and 106 age-matched controls were genotyped according to BamH I restriction site in intron 8 of the presenilin-1 gene. The distribution of genotypes and alleles did not significantly differ according to chi(2) test (P = .52, P = .32, respectively), when the control and patients were compared. Consequently, our results showed that the 1/1 genotype does not increase the risk of developing late-onset Alzheimer's disease in the Turkish population.