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Background/Aims: Several candidate genes were suggested to modify the susceptibility to both Alzheimer's disease (AD) and Parkinson's disease (PD). Symptoms of dementia are found in approximately 30% of PD patients. Both apolipoprotein E (APO E) and ubiquitin carboxyl-terminal esterase L1 (UCHL1) are neuropathogenic proteins for both diseases. The aim of this study was to investigate whether polymorphisms of both genes are associated with AD and PD with dementia (PDD). Methods: The APO E polymorphism and 5 common single-nucleotide polymorphisms (SNPs) of the UCHL1 gene were analyzed using a case-control study design. Results: Although APO E4 affected the onset of AD, the 5 SNPs of the UCHL1 gene were not associated with risk for AD. Linkage disequilibrium (LD) analysis of our Japanese data set showed that the SNPs of the UCHL1 gene are part of one LD block. Although one SNP, rs4861387, of the UCHL1 gene showed marginal association with PDD, we did not detect any association between the other SNPs and PDD. Conclusion: The common SNPs of UCHL1 are not major risk factors for AD. Since our analyses on PDD are preliminary, further genetic studies on APO E, UCHL1 and PD with and without dementia are needed. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background/Aims: Ghrelin has been reported to enter the hippocampus and to bind to the neurons of the hippocampal formation. This peptide also affects neuronal glucose uptake and decreases tau hyperphosphorylation. There is increasing evidence suggesting an association between ghrelin and Alzheimer's disease (AD) pathology. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of the ghrelin gene are associated with AD. Methods: The SNPs were genotyped using TaqMan technology and were analyzed using a case-control study design. Our case-control dataset consisted of 182 AD patients and 143 age-matched controls. Results: Hardy-Weinberg equilibrium and linkage disequilibrium analyses suggest that the region in and around the gene is highly polymorphic. One SNP, rs4684677 (Leu90Gln), showed a marginal association with age of AD onset. We did not detect any association between the other SNPs of the ghrelin gene and AD. Conclusion: There have been few genetic studies on the relationship between circulating ghrelin and functional SNPs. Further multifactorial studies are needed to clarify the relationship between ghrelin and AD. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background/Aims: A recent paper reported that the phospholipid transfer protein (PLTP) reduces phosphorylation of tau in human neuronal cells. In addition, patients with Alzheimer’s disease (AD) have significantly higher levels of PLTP in brain tissue and significantly lower PLTP-mediated phospholipid transfer activity in cerebrospinal fluid. PLTP also affects apolipoprotein E (APOE) secretion from glial cells. This study aimed to investigate whether single nucleotide polymorphisms (SNPs) of the PLTP gene are associated with AD. Methods: Five SNPs, genotyped using TaqMan® technology, were analyzed using a case-control study design. Furthermore, we also checked for a synergetic association between the PLTP gene, APOE and AD. Our case-control dataset consisted of 180 AD patients and 130 age-matched controls. Results: None of the SNPs showed a statistically significant association. We could not confirm any synergetic association between the SNPs and APOE in our AD patients. Conclusion: Our results indicate that there is no genetic association between PLTP and AD. Due to the relatively small sample size and the incomplete coverage of the region surrounding the PLTP gene of this study, larger genetic studies covering the entire PLTP gene region are needed. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]