No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease

Genetic Epidemiology
W K ScottJ L Haines

Abstract

Recent reports have shown an association between an intronic polymorphism of the presenilin-1 (PSEN1) gene and late-onset (age at onset > 65) familial and sporadic (no family history) Alzheimer disease (AD). The reported association was independent of the effect of the only previously identified gene associated with late-onset AD, APOE. Blood samples were obtained from members of 122 multiplex AD families, 42 unrelated cases of AD with positive family histories of dementia, 456 sporadic cases of AD, and 317 controls of similar ages at examination to the cases. These samples were genotyped for an intronic polymorphism of the PSEN1 gene, located 3' to exon 8, and the data analyzed for evidence of association or linkage. The samples were also genotyped for APOE and the data analyzed to see if the association or linkage changed when controlling for APOE genotype. There was no statistically significant increase (at alpha = .01) in allele 1 (199 bp) or genotype 1/1 in the sporadic AD cases, or in a random sample of one affected from each multiplex family, compared to controls. When examining the effect of the PSEN1 polymorphism while controlling for APOE genotype, APOE genotype was strongly associated with AD, but the PSEN1 polymorph...Continue Reading

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Citations

Jul 15, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·H TanimukaiM Takeda
Jul 25, 2000·Psychiatry Research·K OharaK Ohara
Aug 28, 2007·Brain Research·Miguel Rodríguez-ManotasJuan Cabezas-Herrera
Aug 17, 2004·Neuroscience Letters·Paola LucarelliPaolo Curatolo
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Aug 22, 2000·American Journal of Medical Genetics·M B PetersenM Mikkelsen
Apr 18, 1998·Brain Pathology·P G InceC M Morris

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