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A Novel Blood Test for the Early Detection of Alzheimer's Disease

Rye, Phil D.; Booij, Birgitte Boonstra; Grave, Gisle; Lindahl, Torbjorn; Kristiansen, Lena; Andersen, Hilde-Marie; Horndalsveen, Peter O.; Nygaard, Harald A.; Naik, Mala and Hoprekstad, Dagne, et al. (2011) In Journal of Alzheimer's Disease 23(1). p.121-129
Abstract
Despite a variety of testing approaches, it is often difficult to make an accurate diagnosis of Alzheimer's disease (AD), especially at an early stage of the disease. Diagnosis is based on clinical criteria as well as exclusion of other causes of dementia but a definitive diagnosis can only be made at autopsy. We have investigated the diagnostic value of a 96-gene expression array for detection of early AD. Gene expression analysis was performed on blood RNA from a cohort of 203 probable AD and 209 cognitively healthy age matched controls. A disease classification algorithm was developed on samples from 208 individuals (AD = 103; controls = 105) and was validated in two steps using an independent initial test set (n = 74; AD= 32; controls... (More)
Despite a variety of testing approaches, it is often difficult to make an accurate diagnosis of Alzheimer's disease (AD), especially at an early stage of the disease. Diagnosis is based on clinical criteria as well as exclusion of other causes of dementia but a definitive diagnosis can only be made at autopsy. We have investigated the diagnostic value of a 96-gene expression array for detection of early AD. Gene expression analysis was performed on blood RNA from a cohort of 203 probable AD and 209 cognitively healthy age matched controls. A disease classification algorithm was developed on samples from 208 individuals (AD = 103; controls = 105) and was validated in two steps using an independent initial test set (n = 74; AD= 32; controls = 42) and another second test set (n = 130; AD= 68; controls = 62). In the initial analysis, diagnostic accuracy was 71.6 +/- 10.3%, with sensitivity 71.9 +/- 15.6% and specificity 71.4 +/- 13.7%. Essentially the same level of agreement was achieved in the two independent test sets. High agreement (24/30; 80%) between algorithm prediction and subjects with available cerebrospinal fluid biomarker was found. Assuming a clinical accuracy of 80%, calculations indicate that the agreement with underlying true pathology is in the range 85%-90%. These findings suggest that the gene expression blood test can aid in the diagnosis of mild to moderate AD, but further studies are needed to confirm these findings. (Less)
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Contribution to journal
publication status
published
subject
keywords
Alzheimer's disease, biomarker, blood, diagnostic test, gene, expression, RNA
in
Journal of Alzheimer's Disease
volume
23
issue
1
pages
121 - 129
publisher
IOS Press
external identifiers
  • wos:000286141500012
  • scopus:78651371164
ISSN
1387-2877
DOI
10.3233/JAD-2010-101521
language
English
LU publication?
yes
id
d3b7a2df-092e-4d33-9a2f-d8ab2b62be78 (old id 1790741)
date added to LUP
2011-03-02 13:11:25
date last changed
2017-10-01 03:17:26
@article{d3b7a2df-092e-4d33-9a2f-d8ab2b62be78,
  abstract     = {Despite a variety of testing approaches, it is often difficult to make an accurate diagnosis of Alzheimer's disease (AD), especially at an early stage of the disease. Diagnosis is based on clinical criteria as well as exclusion of other causes of dementia but a definitive diagnosis can only be made at autopsy. We have investigated the diagnostic value of a 96-gene expression array for detection of early AD. Gene expression analysis was performed on blood RNA from a cohort of 203 probable AD and 209 cognitively healthy age matched controls. A disease classification algorithm was developed on samples from 208 individuals (AD = 103; controls = 105) and was validated in two steps using an independent initial test set (n = 74; AD= 32; controls = 42) and another second test set (n = 130; AD= 68; controls = 62). In the initial analysis, diagnostic accuracy was 71.6 +/- 10.3%, with sensitivity 71.9 +/- 15.6% and specificity 71.4 +/- 13.7%. Essentially the same level of agreement was achieved in the two independent test sets. High agreement (24/30; 80%) between algorithm prediction and subjects with available cerebrospinal fluid biomarker was found. Assuming a clinical accuracy of 80%, calculations indicate that the agreement with underlying true pathology is in the range 85%-90%. These findings suggest that the gene expression blood test can aid in the diagnosis of mild to moderate AD, but further studies are needed to confirm these findings.},
  author       = {Rye, Phil D. and Booij, Birgitte Boonstra and Grave, Gisle and Lindahl, Torbjorn and Kristiansen, Lena and Andersen, Hilde-Marie and Horndalsveen, Peter O. and Nygaard, Harald A. and Naik, Mala and Hoprekstad, Dagne and Wetterberg, Peter and Nilsson, Christer and Aarsland, Dag and Sharma, Praveen and Lonneborg, Anders},
  issn         = {1387-2877},
  keyword      = {Alzheimer's disease,biomarker,blood,diagnostic test,gene,expression,RNA},
  language     = {eng},
  number       = {1},
  pages        = {121--129},
  publisher    = {IOS Press},
  series       = {Journal of Alzheimer's Disease},
  title        = {A Novel Blood Test for the Early Detection of Alzheimer's Disease},
  url          = {http://dx.doi.org/10.3233/JAD-2010-101521},
  volume       = {23},
  year         = {2011},
}