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Original Contribution |

Comprehensive Search for Alzheimer Disease Susceptibility Loci in the APOE Region

Gyungah Jun, PhD; Badri N. Vardarajan, PhD; Jacqueline Buros, BA; Chang-En Yu, PhD; Michele V. Hawk, DVM; Beth A. Dombroski, PhD; Paul K. Crane, MD, MPH; Eric B. Larson, MD, MPH; Richard Mayeux, MD, MS; Jonathan L. Haines, PhD; Kathryn L. Lunetta, PhD; Margaret A. Pericak-Vance, PhD; Gerard D. Schellenberg, PhD; Lindsay A. Farrer, PhD
Arch Neurol. 2012;69(10):1270-1279. doi:10.1001/archneurol.2012.2052.
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Objective  To evaluate the association of risk and age at onset (AAO) of Alzheimer disease (AD) with single-nucleotide polymorphisms (SNPs) in the chromosome 19 region including apolipoprotein E (APOE) and a repeat-length polymorphism in TOMM40 (poly-T, rs10524523).

Design  Conditional logistic regression models and survival analysis.

Setting  Fifteen genome-wide association study data sets assembled by the Alzheimer's Disease Genetics Consortium.

Participants  Eleven thousand eight hundred forty AD cases and 10 931 cognitively normal elderly controls.

Main Outcome Measures  Association of AD risk and AAO with genotyped and imputed SNPs located in an 800-Mb region including APOE in the entire Alzheimer's Disease Genetics Consortium data set and with the TOMM40 poly-T marker genotyped in a subset of 1256 cases and 1605 controls.

Results  In models adjusting for APOE ϵ4, no SNPs in the entire region were significantly associated with AAO at P < .001. Rs10524523 was not significantly associated with AD or AAO in models adjusting for APOE genotype or within the subset of ϵ3/ϵ3 subjects.

Conclusions  APOE alleles ϵ2, ϵ3, and ϵ4 account for essentially all the inherited risk of AD associated with this region. Other variants including a poly-T track in TOMM40 are not independent risk or AAO loci.

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Grahic Jump Location

Figure 1. Distribution of TOMM40 rs10524523 genotypes (derived from combinations of the short [s ], long [l], and very long [v ] alleles) according to apolipoprotein E (APOE) genotype in the Adult Changes in Thought Study (A), National Institute on Aging Alzheimer's Disease Centers (B), Alzheimer's Disease Neuroimaging Initiative Study (C), and the combined (D) data sets.

Place holder to copy figure label and caption
Grahic Jump Location

Figure 2. Survival analysis curves for age at onset of Alzheimer disease in the Adult Changes in Thought Study (A and B), National Institute on Aging Alzheimer's Disease Centers (C and D), and Alzheimer's Disease Neuroimaging Initiative Study (E and F) data sets. The effect of the presence or absence of the TOMM40 long (l) allele at rs10524523 and of the apolipoprotein E (APOE) ϵ4 allele on age at onset is shown in all subjects (A, C, and E) and in the APOE ϵ3/ϵ3 subgroup (B, D, and E). s Indicates short allele and v, very long allele.

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