Apolipoprotein E: Risk factor for Alzheimer disease

Journal Article · Fri Apr 01 04:00:00 EST 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7285483

Tsai, M S; Thibodeau, S N; Tangalos, E G; Petersen, R C; Kokmen, E; Smith, G E; Schaid, D J; Ivnik, R J ^[1]

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1. Mayo Clinic, Rochester, MN (United States)

The apolipoprotein E gene (APOE) has three common alleles (E2, E3, and E4) that determine six genotypes in the general population. In this study, the authors examined 77 patients with late-onset Alzheimer disease (AD), along with an equal number of age- and sex-matched controls, for an association with the APOE-E4 allele. They show that the frequency of this allele among AD patients was significantly higher than that among the control population (.351 vs. .130, P = .000006). The genotype frequencies also differed between the two groups (P = .0002), with the APOE-E4/E3 genotype being the most common in the AD group and the APOE-E3/E3 being the most common in the control group. In the AD group, homozygosity for E4 was found in nine individuals, whereas none was found in the control group. The odds ratio for AD, when associated with one or two E4 alleles, was 4.6 (95% confidence interval [CI] 1.9-12.3), while the odds ratio for AD, when associated with heterozygosity for APOE-E4, was 3.6 (05% CI 1.5-9.8). Finally, the median age at onset among the AD patients decreased from 83 to 78 to 74 years as the number of APOE-E4 alleles increased from 0 to 1 to 2, respectively (test for trend, P = .001). The data, which are in agreement with recent reports, suggest that the APOE-E4 allele is associated with AD and that this allelic variant may be an important risk factor for susceptibility to AD in the general population. 30 refs., 5 tabs.

• OSTI ID: 7285483
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
APOLIPOPROTEINS
CENTRAL NERVOUS SYSTEM
DISEASES
GENE MUTATIONS
GENETIC MAPPING
LIPIDS
LIPOPROTEINS
MAPPING
MUTATIONS
NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES
ORGANIC COMPOUNDS
PROTEINS