Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease
2008 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 16, no 2, 202-208 p.Article in journal (Refereed) Published
Alzheimer's disease (AD) is a neurodegenerative disease that affects approximately 20 million persons all over the world. There are both sporadic and familial forms of AD. We have previously reported a genome-wide linkage analysis on 71 Swedish AD families using 365 genotyped microsatellite markers. In this study, we increased the number of individuals included in the original 71 analysed families besides adding 38 new families. These 109 families were genotyped for 1100 novel microsatellite markers. The present study reports on the linkage data generated from the non-overlapping genotypes from the first genome scan and the genotypes of the present scan, which results in a total of 1289 successfully genotyped markers at an average density of 2.85 cM on 468 individuals from 109 AD families. Non-parametric linkage analysis yielded a significant multipoint LOD score in chromosome 19q13, the region harbouring the major susceptibility gene APOE, both for the whole set of families (LOD = 5.0) and the APOE epsilon 4-positive subgroup made up of 63 families (LOD = 5.3). Other suggestive linkage peaks that were observed in the original genome scan of 71 Swedish AD families were not detected in this extended analysis, and the previously reported linkage signals in chromosomes 9, 10 and 12 were not replicated.
Place, publisher, year, edition, pages
2008. Vol. 16, no 2, 202-208 p.
linkage analysis; familial dementia; APOE; Alzheimer's disease; genome scan; lod score
IdentifiersURN: urn:nbn:se:kth:diva-7798DOI: 10.1038/sj.ejhg.5201946ISI: 000252426500011ScopusID: 2-s2.0-38349170135OAI: oai:DiVA.org:kth-7798DiVA: diva2:12927
QC 201006222007-12-102007-12-102012-03-21Bibliographically approved