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Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.

Publication ,  Journal Article
Pericak-Vance, MA; Johnson, CC; Rimmler, JB; Saunders, AM; Robinson, LC; D'Hondt, EG; Jackson, CE; Haines, JL
Published in: Ann Neurol
June 1996

Alzheimer's Disease (AD) is a complex genetic disorder with four loci already identified. Mutations in three of these, the amyloid precursor protein, presenilin I, and presenilin II, cause early-onset AD. The apolipoprotein E (APOE) gene contributes primarily to late-onset AD. The APOE-4 allele acts in a dose-related fashion to increase risk and decrease the age-of-onset distribution in AD. We examined the effect of APOE on AD in a previously unstudied Amish population that has a lower prevalence of dementia compared with other populations. We sampled a large inbred family with 6 late-onset AD members. We also genotyped 53 individuals from the general Amish population as controls for the APOE allele frequency estimates. The frequency of the APOE-4 allele in the Amish controls was 0.037 +/- 0.02. This differed significantly compared with three independent sets of non-Amish white controls (p < 2 x 10(-4), p < 6 x 10(-5), and p < 2 x 10(-6)). In addition, all Amish AD-affected individuals had APOE 3/3 genotypes; no APOE X/4 or 4/4 individuals were observed. We suggest that the lower frequency of dementia in the Amish may be partially explained by the decreased frequency of the APOE-4 allele in this population, and that the inbred nature of this pedigree, with its strong clustering of cases contrasted against the lower frequency of dementia, indicates that additional genetic factors influence late-onset AD.

Duke Scholars

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

June 1996

Volume

39

Issue

6

Start / End Page

700 / 704

Location

United States

Related Subject Headings

  • Prevalence
  • Point Mutation
  • Pedigree
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Incidence
  • Humans
  • Genotype
  • Female
 

Citation

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MLA
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Pericak-Vance, M. A., Johnson, C. C., Rimmler, J. B., Saunders, A. M., Robinson, L. C., D’Hondt, E. G., … Haines, J. L. (1996). Alzheimer's disease and apolipoprotein E-4 allele in an Amish population. Ann Neurol, 39(6), 700–704. https://doi.org/10.1002/ana.410390605
Pericak-Vance, M. A., C. C. Johnson, J. B. Rimmler, A. M. Saunders, L. C. Robinson, E. G. D’Hondt, C. E. Jackson, and J. L. Haines. “Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.Ann Neurol 39, no. 6 (June 1996): 700–704. https://doi.org/10.1002/ana.410390605.
Pericak-Vance MA, Johnson CC, Rimmler JB, Saunders AM, Robinson LC, D’Hondt EG, et al. Alzheimer's disease and apolipoprotein E-4 allele in an Amish population. Ann Neurol. 1996 Jun;39(6):700–4.
Pericak-Vance, M. A., et al. “Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.Ann Neurol, vol. 39, no. 6, June 1996, pp. 700–04. Pubmed, doi:10.1002/ana.410390605.
Pericak-Vance MA, Johnson CC, Rimmler JB, Saunders AM, Robinson LC, D’Hondt EG, Jackson CE, Haines JL. Alzheimer's disease and apolipoprotein E-4 allele in an Amish population. Ann Neurol. 1996 Jun;39(6):700–704.
Journal cover image

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

June 1996

Volume

39

Issue

6

Start / End Page

700 / 704

Location

United States

Related Subject Headings

  • Prevalence
  • Point Mutation
  • Pedigree
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Incidence
  • Humans
  • Genotype
  • Female