A genome-wide association study of late-onset Alzheimer’s disease in a Japanese population
Abstract
Objective Although a number of genome-wide association studies (GWASs) of late-onset Alzheimer's disease (LOAD) have been carried out, there have been little GWAS data on East Asian populations. Design To discover the novel susceptibility loci of LOAD, we carried out a GWAS using 816 LOAD cases and 7992 controls with a replication analysis using an independent panel of 1011 LOAD cases and 7212 controls in a Japanese population. In addition, we carried out a stratified analysis by APOE-ε4 status to eliminate the established effect of APOE region. Results Our data indicated that 18p11.32 (rs1992269, P = 9.77 × 10(-7)), CNTNAP2 (rs802571, P = 1.26 × 10(-6)), and 12q24.23 (rs11613092, P = 6.85 × 10(-6)) were suggestive loci for susceptibility to LOAD. Conclusion We identified three suggestive loci for susceptibility to LOAD in a Japanese population. Among these, rs802571, located at intron 1 of CNTNAP2, was considered to be a plausible candidate locus from a functional perspective.
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Meta-analysis after stratification by APOE ε4 carrier and non-carrier status identified rs802571 in the intron of CNTNAP2 and rs11613092 in the intergenic region between SUDS3 and SRRM4.
“meta-analysis after stratification of the discovery and replication cohorts by APOE ε4 carrier and non-carrier status identified rs802571 in the intron of CNTNAP2 and rs11613092 in the intergenic region between SUDS3 and SRRM4.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [26]
The second genome-wide association study in East Asians, published in 2015, identified rs1992269 located at 18p11.32.
“The second GWAS for AD in East Asians was published in 2015 [26], which was a meta-analysis of a discovery cohort (816 AD patients and 7992 healthy subjects) and a replication cohort (1011 AD patients and 7212 healthy subjects). This GWAS identified rs1992269 located at 18p11.32”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [26]
A meta-analysis of APOE ε4 carriers did not yield any significant SNPs associated with Alzheimer's disease.
“However, a meta-analysis of APOE ε4 carriers did not yield any significant SNPs associated with AD.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [26]
No significant SNPs were found in APOE ε4 carriers in two genome-wide association study populations.
“Intriguingly, no significant SNPs were found in APOE ε4 carriers in two GWAS populations [26, 31]”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [26]
Several SNPs identified in APOE ε4 noncarriers were not common and had a much smaller effect size than SNPs in the APOE region.
“In contrast, several SNPs been identified in ε4 noncarriers, but they were not common, and they had a much smaller effect size than SNPs in the APOE region”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [26]
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Shigemizu, D., Mitsumori, R., Akiyama, S., Miyashita, A., Morizono, T., Higaki, S., Asanomi, Y., Hara, N., Tamiya, G., Kinoshita, K., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01272-3 · Cited by 80 · see citing works
Genetics of Alzheimer’s disease: An East Asian perspective
Miyashita, A., Kikuchi, M., Hara, N., & Ikeuchi, T. (2023) · Journal of Human Genetics · doi:10.1038/s10038-022-01050-z · Cited by 64 · see citing works
- Authors
- Hirano, A., Ohara, T., Takahashi, A., Aoki, M., Fuyuno, Y., Ashikawa, K., Morihara, T., Takeda, M., Kamino, K., Oshima, E., Okahisa, Y., Shibata, N., Arai, H., Akatsu, H., Ikeda, M., Iwata, N., Ninomiya, T., Monji, A., Kitazono, T., Kiyohara, Y., Kubo, M., & Kanba, S.
- Affiliations
- Kyushu University (JP)
- RIKEN Center for Integrative Medical Sciences (JP)
- The University of Osaka (JP)
- National Hospital Organization (JP)
- Okayama University (JP)
- Juntendo University (JP)
- Fukushimura Hospital (JP)
- Fujita Health University (JP)
- Saga University (JP)
- Corresponding author
- Hirano, Atsushi
- ORCID
- Venue
- Psychiatric Genetics
- Published
- 2015-08
- Volume
- 25
- Issue
- 4
- Pages
- 139-146
- ISSN
- 0955-8829 (ISSN-L)
- OpenAlex
- W615366475
- Cited by
- 36
- References
- 0
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 6 · 2019: 3 · 2018: 4 · 2016: 1
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Psychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (25253048, 15K09835, 26461749)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- late-onset Alzheimer's disease, genetic susceptibility loci, Japanese population, CNTNAP2, APOE ε4, East Asian populations
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alzheimer Disease, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 18, Female, Humans, Japan, Male, Membrane Proteins, Middle Aged, Nerve Tissue Proteins, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Genome-Wide Association Study
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