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GWAS Study

Genome-wide association analysis of age-at-onset in Alzheimer's disease.

Kamboh MI, Barmada MM, Demirci FY et al.

22005931 PubMed ID
GWAS Study Type
2222 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KM
Kamboh MI
BM
Barmada MM
DF
Demirci FY
MR
Minster RL
CM
Carrasquillo MM
PV
Pankratz VS
YS
Younkin SG
SA
Saykin AJ
SR
Sweet RA
FE
Feingold E
DS
DeKosky ST
LO
Lopez OL
Chapter II

Abstract

Summary of the research findings

The risk of Alzheimer's disease (AD) is strongly determined by genetic factors and recent genome-wide association studies (GWAS) have identified several genes for the disease risk. In addition to the disease risk, age-at-onset (AAO) of AD has also strong genetic component with an estimated heritability of 42%. Identification of AAO genes may help to understand the biological mechanisms that regulate the onset of the disease. Here we report the first GWAS focused on identifying genes for the AAO of AD. We performed a genome-wide meta-analysis on three samples comprising a total of 2222 AD cases. A total of ~2.5 million directly genotyped or imputed single-nucleotide polymorphisms (SNPs) were analyzed in relation to AAO of AD. As expected, the most significant associations were observed in the apolipoprotein E (APOE) region on chromosome 19 where several SNPs surpassed the conservative genome-wide significant threshold (P<5E-08). The most significant SNP outside the APOE region was located in the DCHS2 gene on chromosome 4q31.3 (rs1466662; P=4.95E-07). There were 19 additional significant SNPs in this region at P<1E-04 and the DCHS2 gene is expressed in the cerebral cortex and thus is a potential candidate for affecting AAO in AD. These findings need to be confirmed in additional well-powered samples.

1,190 European ancestry cases, 1,032 cases

Chapter III

Study Statistics

Key metrics and study information

2222
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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