Change search
ReferencesLink to record
Permanent link

Direct link
Linkage Analysis of Autopsy-Confirmed Familial Alzheimer Disease Supports an Alzheimer Disease Locus in 8q24
Show others and affiliations
2011 (English)In: Dementia and Geriatric Cognitive Disorders, ISSN 1420-8008, E-ISSN 1421-9824, Vol. 31, no 2, 109-118 p.Article in journal (Refereed) Published
Abstract [en]

Background/Aims: We have previously reported the results of an extended genome-wide scan of Swedish Alzheimer disease (AD)-affected families; in this paper, we analyzed a subset of these families with autopsy-confirmed AD. Methods: We report the fine-mapping, using both microsatellite markers and single-nucleotide polymorphisms (SNPs), in the observed maximum logarithm of the odds (LOD)-2 unit (LODmax-2) region under the identified linkage peak, linkage analysis of the fine-mapping data with additionally analyzed pedigrees, and association analysis of SNPs selected from candidate genes in the linked interval. The subset was made on the criterion of at least one autopsy-confirmed AD case per family, resulting in 24 families. Results: Linkage analysis of a family subset having at least one autopsy-confirmed AD case showed a significant nonparametric single-point LOD score of 4.4 in 8q24. Fine-mapping under the linkage peak with 10 microsatellite markers yielded an increase in the multipoint (mpt) LOD score from 2.1 to 3.0. SNP genotyping was performed on 21 selected candidate transcripts of the LODmax-2 region. Both family-based association and linkage analysis were performed on extended material from 30 families, resulting in a suggestive linkage at peak marker rs6577853 (mpt LOD score = 2.4). Conclusion: The 8q24 region has been implicated to be involved in AD etiology.

Place, publisher, year, edition, pages
2011. Vol. 31, no 2, 109-118 p.
Keyword [en]
Association study, Alzheimer disease, Chromosome 8, Genome scan, Linkage analysis
National Category
Geriatrics Genetics
URN: urn:nbn:se:kth:diva-33732DOI: 10.1159/000323808ISI: 000289888800003ScopusID: 2-s2.0-79151484487OAI: diva2:417257
Knut and Alice Wallenberg Foundation
QC 20110516Available from: 2011-05-16 Created: 2011-05-16 Last updated: 2011-05-16Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textScopus

Search in DiVA

By author/editor
Andrade, JorgeOdeberg, Jacob
By organisation
School of Biotechnology (BIO)Proteomics
In the same journal
Dementia and Geriatric Cognitive Disorders

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 20 hits
ReferencesLink to record
Permanent link

Direct link