Dursun Erdinç, Gezen-Ak Duygu, Eker Engin, Ertan Turan, Engin Funda, Hanagasi Hasmet, Gürvit Hakan, Emre Murat, Yilmazer Selma
Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
J Geriatr Psychiatry Neurol. 2008 Dec;21(4):268-73. doi: 10.1177/0891988708324941.
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-square 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.
早老素-1已知与阿尔茨海默病的发病机制有关。早老素-1基因内含子多态性（rs165932）与晚发性阿尔茨海默病的关联已有文献记载。然而，不同人群的研究结果相互矛盾。本研究的目的是确定在一组土耳其患者中，早老素-1基因内含子多态性与晚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限制性位点，对107例阿尔茨海默型痴呆患者和106例年龄匹配的对照进行基因分型。比较对照组和患者时，根据卡方检验，基因型和等位基因的分布没有显著差异（P分别为0.52和0.32）。因此，我们的结果表明，在土耳其人群中，1/1基因型不会增加患晚发性阿尔茨海默病的风险。
