Haplotypes in cathechol-O-methyltransferase gene confer increased risk for psychosis in Alzheimer disease

Borroni, Barbara; Grassi, Mario; Costanzi, Chiara; Zanetti, Marina; Archetti, Silvana; Franzoni, Simone; Caimi, Luigi; Padovani, Alessandro

doi:10.1016/j.neurobiolaging.2006.05.027

Cited by 28 publications

(19 citation statements)

References 38 publications

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“…These findings are in line with our expectations, since they are all well-known risk factors for delirium in the literature [22]. Because the COMT gene is known to be associated with psychotic symptoms in Alzheimer’s disease, we have adjusted our analyses for preexisting cognitive impairment, but the results remained unchanged [23]. …”

Section: Discussionsupporting

confidence: 86%

“…Directly testing of catechol-O-methyltransferase enzymatic activity and delirium would have a higher sensitivity to pick up any association with the susceptibility to delirium. However, it was shown that these polymorphisms were associated with syndromes with comparable symptoms like hyperactivity in attention deficit hyperactivity disorder [25], schizophrenia [26], psychosis in Alzheimer’s dementia [23] and cognitive decline [7]. The results of the rs4680 polymorphisms are in line with former studies looking at the association with alcohol withdrawal delirium [27].…”

Section: Discussionsupporting

confidence: 66%

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Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Munster¹,

Baas

Tanck

et al. 2011

Dement Geriatr Cogn Disord

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Background/Aims: Catechol-O-methyltransferase, encoded by the COMT gene, is one of the enzymes that degrade dopamine. The aim of this study was to investigate whether polymorphisms in the COMT gene were associated with delirium. Methods: Patients aged 65 years and older, acutely admitted to the medical department or to the surgical department following hip fracture, were included. rs4680, rs4818, and rs6269 were genotyped. Results: Delirious patients were older, and more frequently had preexisting functional or cognitive impairment (p < 0.001). Polymorphisms in the COMT gene were not associated with the development of delirium. Conclusion: Although the COMT gene is a promising candidate gene for delirium in the elderly, functional genetic variations were not associated with delirium.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionsupporting

confidence: 66%

Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Munster¹,

Baas

Tanck

et al. 2011

Dement Geriatr Cogn Disord

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“…This association appeared to result from the interaction of the rs4680, ERE6 and rs165599 polymorphisms. These results were confirmed by a further study on four single-nucleotide polymorphisms within the COMT gene, namely rs737865, rs737864, intron 1 C2754delC, and the well-known COMT valine to methionine (rs4680) [63]. The individual single-nucleotide polymorphism analysis confirmed an association between the rs4680 variant and AD-related psychosis.…”

Section: Genetic Basis Of Psychosis In Alzheimer Diseasesupporting

confidence: 53%

Genetic Susceptibility to Behavioural and Psychological Symptoms in Alzheimer Disease

Borroni

Costanzi²,

Padovani

2010

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Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive cognitive decline including loss of memory, orientation and reasoning. However, a relevant aspect of AD is the presence of a variety of behavioural and psychological symptoms in dementia (BPSD), beyond the well-known progressive cognitive impairment. Approximately 50% to 80% of patients diagnosed with AD present behavioural or psychiatric disturbances such as psychosis, depression, agitation, disinhibition, aggression, hyperactivity, and socially intrusive behaviours. These symptoms may be burdensome for physicians and caregivers and lead to earlier institutionalization and increased social and economic costs. In this view, recent literature has considered the likely genetic component of BPSD in AD, defining different clusters. Several studies have investigated whether the main recognised genetic risk factor for late-onset AD, namely the apolipoprotein E (APOE) gene, is associated with BPSD, with conflicting results. The involvement of dopamine- or serotonin-related pathways and associated genetic variabilities has been demonstrated as being interesting candidates for the neuropsychiatry manifestations of dementia. Moreover, genetic variations of neurotrophins, such as brain-derived neurotrophic factor (BDNF), have been related to depression susceptibility in AD. In the present review, we summarise the current literature on genetic risk factors to BPSD susceptibility in AD and discuss future possible treatment strategies.

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“…The observation of a haplotype effect of different polymorphisms within the COMT gene emphasizes the usefulness of haplotype analysis in better defining individualized genetic risk profiles in AD [37,42]. In addition, Borroni et al [22] and Sweet et al [14] determined that COMT genetic variation is associated with a risk of BPSD in AD [13,14].…”

Section: Discussionmentioning

confidence: 99%

Catechol-O-Methyltransferase GeneticVariant Associated with the Risk of Alzheimers Disease in a Brazilian Population

Pereira

Romano-Silva

Bicalho

et al. 2012

Dement Geriatr Cogn Disord

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The aim of the present study was to examinethe association between polymorphism in thecatechol-O-methyltransferase(COMT) gene and Alzheimer’s disease (AD) in a Brazilianpopulation. The case-control method was used to study the association between AD and geneticvariants of COMT. Six tag single-nucleotide polymorphisms(SNPs) in the COMT gene were genotyped by RT-PCR. Ourfindings showed that the 6 tag SNPs analyzed in this study were not associated with AD at the alleleand genotype levels in comparison with the control group. No statistical difference was foundbetween groups with and without behavioral and psychological symptoms of dementia (BPSD). Ourresults do not support the hypothesis that the polymorphisms of theCOMT gene may be associated with susceptibility to AD withand without BPSD.

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Haplotypes in cathechol-O-methyltransferase gene confer increased risk for psychosis in Alzheimer disease

Cited by 28 publications

References 38 publications

Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Genetic Susceptibility to Behavioural and Psychological Symptoms in Alzheimer Disease

Catechol-O-Methyltransferase GeneticVariant Associated with the Risk of Alzheimers Disease in a Brazilian Population

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Haplotypes in cathechol-O-methyltransferase gene confer increased risk for psychosis in Alzheimer disease

Cited by 28 publications

References 38 publications

Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Polymorphisms in the Catechol-O-Methyltransferase Gene and Delirium in the Elderly

Genetic Susceptibility to Behavioural and Psychological Symptoms in Alzheimer Disease

Catechol-O-Methyltransferase GeneticVariant Associated with the Risk of Alzheimers Disease in a Brazilian Population

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Product

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Catechol-O-Methyltransferase GeneticVariant Associated with the Risk of Alzheimers Disease in a Brazilian Population