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Cited by 262

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Results of a high-resolution genome screen of 437 Alzheimer's Disease families

Blacker, D.·2003·Human Molecular Genetics
DOI 10.1093/hmg/ddg007
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Abstract

Alzheimer's disease (AD) is a devastating neurodegenerative disorder of late life with complex inheritance. Mutations in three known genes lead to the rare early-onset autosomal dominant form of AD, while a common polymorphism (epsilon 4) in the gene encoding apolipoprotein E (APOE ) is a risk factor for more typical late-onset (>60 years) AD. A recent study concluded that there are up to four additional genes with an equal or greater contribution to the disease. We performed a 9 cM genome screen of 437 families with AD, the full National Institute of Mental Health (NIMH) sample, which has been carefully ascertained, evaluated and followed by our group over the last decade. Performing standard parametric and non-parametric linkage analyses, we observed a 'highly significant' linkage peak by Lander and Kruglyak criteria on chromosome 19q13, which probably represents APOE. Twelve additional locations-on 1q23, 3p26, 4q32, 5p14, 6p21, 6q27, 9q22, 10q24, 11q25, 14q22, 15q26 and 21q22-met criteria for 'suggestive' linkage [i.e. two-point lod score (TLS) >/=1.9 and/or multipoint lod score (MLS) >/=2.2] in at least one of our analyses. Although some of these will surely prove to be false positives, these linkage signals should provide a valuable framework for future studies aimed at identifying additional susceptibility genes for late-onset AD.

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Crossref · 10.1093/hmg/ddg007

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  • Several groups identified a potential contribution of LDLR to AD and investigated potential links, with some apparently opposing results.

    “Several groups identified a potential contribution of LDLR to AD and investigated potential links, for example by crossing AD transgenic mice with the LDLR−/− mouse model of hypercholesterolemia to investigate the effects of LDLR deficiency [30]–[40]. Some apparently opposing results were obtained.”

    From LDLR Expression and Localization Are Altered in Mouse and Human Cell Culture Models of Alzheimer's Disease (2010) · cites this paper as [34]

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Metadata

Authors
Blacker, D.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2003-01-01
Volume
12
Issue
1
Pages
23-32
ISSN
1460-2083
DOI
10.1093/hmg/ddg007
Cited by
262
References
2

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