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Sequence variation ...
Sequence variation in SORL1 and dementia risk in Swedes.
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Reynolds, Chandra A (author)
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- Hong, Mun-Gwan (author)
- Karolinska Institutet
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Eriksson, Ulrika K (author)
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- Blennow, Kaj, 1958 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Johansson, Boo (author)
- Gothenburg University,Göteborgs universitet,Psykologiska institutionen,Department of Psychology
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- Malmberg, Bo, 1946- (author)
- Jönköping University,HHJ, Institutet för gerontologi,HHJ. Åldrande - livsvillkor och hälsa
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- Berg, Stig, 1947- (author)
- Jönköping University,HHJ, Institutet för gerontologi,HHJ. Åldrande - livsvillkor och hälsa
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Gatz, Margaret (author)
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- Pedersen, Nancy L (author)
- Karolinska Institutet
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- Bennet, Anna M (author)
- Karolinska Institutet
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- Prince, Jonathan A (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2009-08-04
- 2010
- English.
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In: Neurogenetics. - : Springer Science and Business Media LLC. - 1364-6753 .- 1364-6745. ; 11:1, s. 139-42
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Abstract
Subject headings
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- The gene encoding the neuronal sortilin-related receptor SORL1 has been claimed to be associated with Alzheimer's disease (AD) by independent groups and across various human populations. We evaluated six genetic markers in SORL1 in a sample of 1,558 Swedish dementia cases (including 1,270 AD cases) and 2,179 controls. For both single-marker-based and haplotype-based analyses, we found no strong support for SORL1 as a dementia or AD risk-modifying gene in our sample in isolation nor did we observe association with AD/dementia-related traits, including cerebrospinal fluid beta-amyloid(1-42), tau levels, or age at onset. However, meta-analyses of markers in this study together with previously published studies on SORL1 encompassing in excess of 13,000 individuals does suggest significant association with AD (best odds ratio = 1.097; 95% confidence interval = 1.038-1.158, p = 0.001). All six markers were significant in meta-analyses and it is notable that they occur in two distinct linkage disequilibrium blocks. These data are consistent with either allelic heterogeneity or the existence of as yet untested functional variants and these will be important considerations in further attempts to evaluate the importance of sequence variation in SORL1 with AD risk.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Geriatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Geriatrics (hsv//eng)
Keyword
- Alzheimer Disease
- ethnology
- genetics
- Dementia
- genetics
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Variation
- Haplotypes
- Humans
- LDL-Receptor Related Proteins
- genetics
- Linkage Disequilibrium
- Membrane Transport Proteins
- genetics
- Models
- Genetic
- Quantitative Trait Loci
- Risk
- Sweden
- Geriatrics and medical gerontology
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Reynolds, Chandr ...
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Hong, Mun-Gwan
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Eriksson, Ulrika ...
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Blennow, Kaj, 19 ...
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Johansson, Boo
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Malmberg, Bo, 19 ...
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show more...
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Berg, Stig, 1947 ...
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Gatz, Margaret
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Pedersen, Nancy ...
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Bennet, Anna M
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Prince, Jonathan ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Geriatrics
- Articles in the publication
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Neurogenetics
- By the university
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University of Gothenburg
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Karolinska Institutet
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Jönköping University