Alzheimer Disease: Dursun E

Dursun E, Gezen-Ak D, Ertan T, Bilgiç B, Gürvit H, Emre M, Eker E, Engin F, Uysal O, Yilmazer S. · Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey. · Dement Geriatr Cogn Disord. · Pubmed #19155622 No free full text.

Abstract: BACKGROUND/AIMS: The polymorphism (rs1800587) in the 5'-flanking regulatory region at -889 of the interleukin-1alpha gene has been shown to be associated with inflammatory diseases and Alzheimer's disease (AD). The aim of the current study is to determine whether there is an association between the promoter region polymorphism of the interleukin-1alpha gene and late-onset AD in a cohort of Turkish patients. METHODS: One hundred and four subjects with dementia of the Alzheimer type and 103 age-matched controls were genotyped according to the PCR with confronting two-pair primers method. RESULTS: Although the distribution of genotypes did not significantly differ (p = 0.107), the difference between allelic frequency was nearly significant according to a chi(2) test (p = 0.05) when the controls and patients were compared. CONCLUSION: Our results showed that there is no association between the -889 C/T transition on the interleukin-1alpha gene and late-onset AD in the Turkish population.

Dursun E, Gezen-Ak D, Eker E, Ertan T, Engin F, Hanagasi H, Gürvit H, Emre M, Yilmazer S. · Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey. · J Geriatr Psychiatry Neurol. · Pubmed #19017784 No free full text.

Abstract: 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.

Gezen-Ak D, Dursun E, Ertan T, Hanağasi H, Gürvit H, Emre M, Eker E, Oztürk M, Engin F, Yilmazer S. · Istanbul University, Cerrahpasa Faculty of Medicine, Department of Medical Biology, Istanbul, Turkey. · Tohoku J Exp Med. · Pubmed #17592215 links to  free full text

Abstract: Vitamin D(3) is known to be involved in neuroprotection and exert its neuroprotective effects by modulating neuronal calcium homeostasis and production of neurotrophins. The single nucleotide polymorphisms (SNP) in vitamin D receptor (VDR) gene which can influence the affinity of vitamin D(3) to its receptor may be related to neurodegenerative diseases and neuronal damage by altering the vitamin D-mediated pathways. In this study, our aim was to determine whether there is an association between VDR gene and late-onset Alzheimer's disease (AD) in order to see if vitamin D contributes to AD or not. One hundred and four cases of dementia of Alzheimer type and 109 age-matched controls were genotyped according to ApaI (a: + restriction site and A: no restriction site) and TaqI (t: + restriction site and T: no restriction site) sites in intron 8 and exon 9 of the ligand-binding site of VDR gene. When the controls and patients were compared for their ApaI genotypes, the frequency of the patients with Aa genotype was significantly higher than the frequency of the healthy individuals with the same genotype (p = 0.008, chi(2) = 9.577, OR = 2.30). Thus, the "Aa" genotype may increase the risk of developing AD 2.3 times when compared with the "AA" genotype. On the other hand, the "AT" haplotype was significantly higher in controls (p = 0.006) indicating a protective role of the "AT" haplotype in AD. Consequently, this study provides evidence for a possible link between AD and vitamin D.