PMID: 8596269Feb 24, 1996Paper

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

Lancet
M WraggC Talbot

Abstract

Mutations in the presenilin-1 (PS-1) gene are associated with early-onset Alzheimer's disease. 40-50% of the risk for late-onset disease has been attributed to alleles at the apolipoprotein E (ApoE) locus. We have looked for an association between PS-1 and late- onset disease. We collected blood samples from 208 white cases of dementia of the Alzheimer type and from 185 age-matched controls (mean ages 76.9 and 76.2 years, respectively; 58% female in each series). Clinical diagnostic accuracy for Alzheimer's disease in our patients is 96%. We also studied 29 African-American patients with dementia of the Alzheimer type and 50 age-matched controls (cases vs controls, 77.2 vs 72.0 years; 72 vs 77% female). We used PCR to test for an association between Alzheimer's disease and a polymorphism within the intron 3' to exon 8 of the PS-1 gene. The ApoE genotype of most of the cases and controls was known from previous investigations. Homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late-onset Alzheimer's disease compared with the [12]/[22] genotype (odds ratio 1.97, 95% Cl 1.29-3.00). The proportion of Alzheimer's disease cases in the white population that could be attributed to homozygosity ...Continue Reading

References

Nov 18, 1995·Lancet·T WisniewskiB Frangione
Sep 1, 1995·Nature Medicine·W WascoD M Kovacs

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Citations

Dec 1, 1996·Annals of Neurology·E Levy-Lahad, T D Bird
May 1, 1997·Annals of Neurology·M J AlbertsA D Roses
Jun 1, 1997·Annals of Neurology·A I LeveyE J Mufson
Jul 1, 1997·Annals of Neurology·M BornebroekC Van Broeckhoven
Nov 18, 1998·Annals of Neurology·R Mayeux, R Ottman
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Apr 27, 1996·Lancet·W K ScottM A Pericak-Vance
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Oct 20, 2001·Behavioural Brain Research·L Fernández-Novoa, R Cacabelos
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Dec 13, 2000·Experimental Gerontology·M A Pericak-VanceJ L Haines

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