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Presenilin-1 Gene Intronic Polymorphism and Late-onset Alzheimer's Disease

Department of Medical Biology Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey

Duygu Gezen- Ak, MSc

Department of Medical Biology Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey

Engin Eker, MD

Department of Geropsychiatry Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey

Turan Ertan, MD

Department of Geropsychiatry Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey

Funda Engin, MD

Department of Geropsychiatry Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey

Hamet Hanaasi, MD

Department of Neurology, Behavioral and Movement Disorders Unit, Istanbul Faculty of Medicine Istanbul University, Istanbul, Turkey

Hakan Gürvit, MD

Department of Neurology, Behavioral and Movement Disorders Unit, Istanbul Faculty of Medicine Istanbul University, Istanbul, Turkey

Murat Emre, MD, PhD

Department of Neurology, Behavioral and Movement Disorders Unit, Istanbul Faculty of Medicine Istanbul University, Istanbul, Turkey

Selma Yilmazer, PhD

Department of Medical Biology Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, selmayilmazer{at}mynet.com

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 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.

Key Words: presenilin 1 • polymorphism • Alzheimer's Disease

Journal of Geriatric Psychiatry and Neurology, Vol. 21, No. 4, 268-273 (2008)
DOI: 10.1177/0891988708324941


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