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A novel ARC gene po...
A novel ARC gene polymorphism is associated with reduced risk of Alzheimer's disease
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- Landgren, Sara, 1980 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden
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- von Otter, Malin, 1978 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,University of Gothenburg, Sweden
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- Palmer, Mona Seibt (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine,University of Gothenburg, Sweden
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- Zetterstrom, Caroline (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för fysiologi,Institute of Neuroscience and Physiology, Department of Physiology,University of Gothenburg, Sweden
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- Nilsson, Staffan, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för matematiska vetenskaper, matematisk statistik,Department of Mathematical Sciences, Mathematical Statistics,Chalmers, Sweden
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- Skoog, Ingmar, 1954 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden
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- Gustafson, Deborah, 1966 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden
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- Minthon, Lennart (författare)
- Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups,Lund University, Sweden
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- Wallin, Anders, 1950 (författare)
- Göteborgs universitet,University of Gothenburg,University of Gothenburg, Sweden
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- Andreasen, Niels (författare)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Bogdanovic, Nenad (författare)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Marcusson, Jan (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Geriatrik,Hälsouniversitetet,Geriatriska kliniken
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- Blennow, Kaj, 1958 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden
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- Zetterberg, Henrik, 1973 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden UCL Institute Neurol, England
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- Kettunen, Petronella (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden
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(creator_code:org_t)
- 2012-05-25
- 2012
- Engelska.
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Ingår i: Journal of Neural Transmission. - : Springer Science and Business Media LLC. - 0300-9564 .- 1435-1463. ; 119:7, s. 833-842
- Relaterad länk:
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http://dx.doi.org/10...
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https://doi.org/10.1...
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https://research.cha...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Alzheimer's disease (AD) is the most common neurodegenerative disease, and is clinically characterized by cognitive disturbances and the accumulation of the amyloid beta (A beta) peptides in plaques in the brain. Recent studies have shown the links between AD and the immediate-early gene Arc (activity-regulated cytoskeleton-associated protein), involved in synaptic plasticity and memory consolidation. For example, AD mouse models show a decreased expression of Arc mRNA in the brain. In additional, acute A beta application to brain slices leads to a widespread ARC protein diffusion, unlike the normal defined localization to synapses. In this study, we investigated genetic variation in human ARC and the risk of developing AD. To this end, we genotyped 713 subjects diagnosed with AD and 841 controls without dementia. ARC was sequenced in a group of healthy individuals, and seven previously known SNPs and three novel SNPs were identified. Two of the newly found SNPs were intronic and one, +2852(G/A), was located in the 3'UTR. Three tag SNPs were selected, including the novel SNP +2852(G/A), to relate to risk of AD, Mini Mental State Examination (MMSE) scores and cerebrospinal fluid (CSF) biomarker levels of total tau (T-tau), hyperphosphorylated tau181 (P-tau(181)) and A beta(1-42). The AA genotype of the newly found 3'-UTR SNP +2852(A/G), was associated with a decreased risk of AD (p (c) = 0.005; OR = 0.74; 95 % CI: 0.61-0.89). No associations of single SNPs or haplotypes with MMSE score or CSF biomarkers were found. Here we report a novel ARC SNP associated with a reduced risk of developing AD. To our knowledge, this is the first study associating a gene variant of ARC with any disease. The location of the SNP within the 3'UTR indicates that dendritic targeting of ARC mRNA could be involved in the molecular mechanisms underlying this protective function. However, further investigation of the importance of this SNP for ARC function, ARC processing and the pathology of AD is needed.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- excitatory synapses
- amyloid-beta-protein
- synaptic plasticity
- long-term-memory
- cognitive impairment
- messenger-rna
- a-beta
- cerebrospinal-fluid
- cytoskeleton-associated protein
- immediate-early gene
- Activity-regulated cytoskeleton-associated protein
- Single nucleotide
- polymorphism
- Gene association
- Alzheimer's disease
- Memory
- Immediate-early gene
- Single nucleotide polymorphism
- MEDICINE
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Landgren, Sara, ...
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von Otter, Malin ...
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Palmer, Mona Sei ...
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Zetterstrom, Car ...
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Nilsson, Staffan ...
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Skoog, Ingmar, 1 ...
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visa fler...
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Gustafson, Debor ...
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Minthon, Lennart
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Wallin, Anders, ...
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Andreasen, Niels
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Bogdanovic, Nena ...
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Marcusson, Jan
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Blennow, Kaj, 19 ...
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Zetterberg, Henr ...
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Kettunen, Petron ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Neurovetenskaper
- Artiklar i publikationen
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Journal of Neura ...
- Av lärosätet
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Chalmers tekniska högskola
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Lunds universitet
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Göteborgs universitet
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Karolinska Institutet
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Linköpings universitet