SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians
Open accessAbstract
To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10(-5) were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10(-7) in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10(-5)) and rs744373 near BIN1 (P = 1.39×10(-4)). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations.
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Shigemizu et al. identified rs920608 on FAM47E and SCARB2 in a replication cohort.
“They identified 134 markers located in nine genes that satisfied the significance level in the discovery cohort, and their evaluation in the replication cohort revealed the presence of rs920608 on FAM47E and SCARB2.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [24]
The Results (page unavailable) say that modest evidence for replication was observed only for SORL1 SNP rs4598682, not rs920608 on FAM47E or SCARB2. The paper’s account of its replication results therefore conflicts with the result attributed to it. (LLM, conf=0.82)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredKang et al. found that at a significance level of P < 5 × 1e-5, only APOE regions were associated in both cohorts.
“At a significance level of P < 5 × 1e-5, only APOE regions were associated in both cohorts.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [24]
The Results report strong APOE-region associations, and Methods > Statistical analysis uses P < 5 × 10⁻⁵ as a threshold for selecting SNPs for replication. But the paper does not state that only APOE regions met that threshold in both cohorts; the Results also report replicated SORL1 associations, including P = 7.33 × 10⁻⁷ in the combined Japanese samples. Page numbers are not available in our copy. (LLM, conf=0.83)
Experimental — accuracy not yet measuredThe first genome-wide association study for Alzheimer's disease in East Asia was reported from Japan in 2013 and identified 6 SNPs outside the APOE region.
“The first GWAS for AD in East Asia was reported from Japan in 2013. This study included a discovery cohort of 1008 AD patients and 1016 healthy subjects, and identified 6 SNPs outside the APOE region [24].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [24]
Methods > Subjects (page unavailable) gives the Japanese discovery cohort as 1,008 AD cases and 1,016 controls. Results > Table 2 (page unavailable) lists six top-ranked SNPs outside the APOE region, but the Abstract says seven SNPs from other regions were tested in a second Japanese sample and association was confirmed for only one. The copy does not establish that this was the first AD GWAS in East Asia. (LLM, conf=0.84)
Experimental — accuracy not yet measuredSNP rs4598682 in SORL1 was confirmed in a replication cohort.
“Among these, SNP rs4598682 in SORL1 was confirmed in a replication cohort that included 885 AD patients and 985 healthy controls.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [24]
TREM2 p.H157Y (rs2234255) has been detected in Caucasians, Chinese, and Japanese.
“For example, TREM2 p.H157Y (rs2234255) has been detected not only in Caucasians [35] but also in Chinese [40] and Japanese [24], and the significance of this variant has been confirmed in the Chinese population (Table 4) [40].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [24]
The Results tables report variants in SORL1 and other genes in Japanese participants, but do not identify TREM2 p.H157Y (rs2234255). Searches of our copy for TREM2, p.H157Y, and rs2234255 found no passage documenting this variant in Japanese people. Page numbers were unavailable. (LLM, conf=0.75)
Experimental — accuracy not yet measured
Neuronal FcγRIIb binds Aβ42 with high affinity and mediates neurotoxicity and memory impairment triggered by Aβ.
“Neuronal FcγRIIb can bind to Aβ42 with a high affinity, and mediate neurotoxicity and memory impairment triggered by Aβ [240, 376–380].”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [379]
The effect of APOEε4 on Alzheimer's disease risk differs across ethnicities.
“the effect of APOEε4 has been reported to differ across ethnicities [58–61]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [59]
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- Authors
- Miyashita, A., Koike, A., Jun, G., Wang, L.-S., Takahashi, S., Matsubara, E., Kawarabayashi, T., Shoji, M., Tomita, N., Arai, H., Asada, T., Harigaya, Y., Ikeda, M., Amari, M., Hanyu, H., Higuchi, S., Ikeuchi, T., Nishizawa, M., Suga, M., Kawase, Y., Akatsu, H., Kosaka, K., Yamamoto, T., Imagawa, M., Hamaguchi, T., Yamada, M., Moriaha, T., Takeda, M., Takao, T., Nakata, K., Fujisawa, Y., Sasaki, K., Watanabe, K., Nakashima, K., Urakami, K., Ooya, T., Takahashi, M., Yuzuriha, T., Serikawa, K., Yoshimoto, S., Nakagawa, R., Kim, J.-W., Ki, C.-S., Won, H.-H., Na, D. L., Seo, S. W., Mook-Jung, I., The Alzheimer Disease Genetics Consortium, St. George-Hyslop, P., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Yoshida, M., Nishida, N., Tokunaga, K., Yamamoto, K., Tsuji, S., Kanazawa, I., Ihara, Y., Schellenberg, G. D., Farrer, L. A., & Kuwano, R.
- Affiliations
- Brain Research Institute, Niigata University (JP)
- Hitachi (Japan) (JP)
- Boston University (US)
- University of Pennsylvania (US)
- Iwate Medical University (JP)
- Hirosaki University (JP)
- Tohoku University (JP)
- University of Tsukuba (JP)
- Maebashi Red Cross Hospital (JP)
- Gunma University (JP)
- Tokyo Medical University (JP)
- Kurihama Medical and Addiction Center (JP)
- Fukushimura Hospital (JP)
- Kanazawa University (JP)
- The University of Osaka (JP)
- Saiseikai Takaoka Hospital (JP)
- Tottori University (JP)
- Fukuoka University (JP)
- Hizen Psychiatric Center (JP)
- Ureshino Medical Center (JP)
- Samsung Medical Center (KR)
- Columbia University (US)
- Vanderbilt University (US)
- The University of Tokyo (JP)
- Kyushu University (JP)
- National Center of Neurology and Psychiatry (JP)
- Doshisha University (JP)
- Corresponding author
- Farrer, Lindsay A.
- Kuwano, Ryozo
- ORCID
- Miyashita, Akinori
- Jun, Gyungah
- Wang, Li-San
- Takahashi, Satoshi
- Matsubara, Etsuro
- Kawarabayashi, Takeshi
- Shoji, Mikio
- Tomita, Naoki
- Arai, Hiroyuki
- Asada, Takashi
- Ikeda, Masaki
- Hanyu, Haruo
- Higuchi, Susumu
- Ikeuchi, Takeshi
- Nishizawa, Masatoyo
- Akatsu, Hiroyasu
- Yamamoto, Takayuki
- Hamaguchi, Tsuyoshi
- Yamada, Masahito
- Takeda, Masatoshi
- Sasaki, Ken
- Watanabe, Ken
- Nakashima, Kenji
- Urakami, Katsuya
- Yuzuriha, Takefumi
- Kim, Jong-Won
- Ki, Chang-Seok
- Won, Hong-Hee
- Na, Duk L.
- Seo, Sang Won
- Mayeux, Richard
- Haines, Jonathan L.
- Yoshida, Makiko
- Nishida, Nao
- Tokunaga, Katsushi
- Yamamoto, Ken
- Ihara, Yasuo
- Schellenberg, Gerard D.
- Farrer, Lindsay A.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-04-02
- Volume
- 8
- Issue
- 4
- Pages
- e58618
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3614978
- OpenAlex
- W2115106388
- Cited by
- 196
- References
- 40
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 16 · 2023: 5 · 2022: 11 · 2021: 14 · 2020: 28 · 2019: 9 · 2018: 17 · 2017: 14 · 2016: 27 · 2015: 16 · 2014: 20 · 2013: 4
- FWCI
- 15.51
- Type
- journal article
- Language
- en
- Update notices
- correction (2013-07-08)
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Columbia Academic Commons (Columbia University)
- Funders
- Howard Hughes Medical Institute
- U.S. Department of Veterans Affairs (U01 AG024904)
- Alzheimer's Association (IIRG-05–14147, K01 AG030514, U01 AG016976, U01 AG032984, IIRG-08-89720, U01 AG024904, U24AG021886)
- Dana Foundation (K01 AG030514, U01 AG024904)
- Bristol-Myers Squibb (U01 AG024904, AG024904)
- Eli Lilly and Company (U01 AG024904, AG024904)
- Pfizer (AG024904, U01 AG024904)
- AstraZeneca
- GlaxoSmithKline
- Novartis
- Office of Research and Development
- F. Hoffmann-La Roche (AG024904, U01 AG024904)
- Medpace (U01 AG024904)
- Synarc (U01 AG024904, K01 AG030514)
- Alzheimer's Disease Neuroimaging Initiative (U01 AG032984, U01AG024904, AG024904, K01 AG030514)
- Northern California Institute for Research and Education (U01 AG024904, K01 AG030514)
- Wellcome Trust (100140, 089703, 081864)
- Alzheimer's Research Trust
- Newcastle University
- Ministry of Education, Culture, Sports, Science and Technology
- Stichting MS Research
- Elan (U01 AG024904)
- Eisai (U01 AG024904, AG024904)
- North Bristol NHS Trust
- Universitat de Barcelona
- Hersenstichting
- National Institutes of Health (5r01ag027944-05, 5u01ag024904-10, 7r01ag019757-06, 5r37ag015473-15, AG016976, U01-AG024904, AG024904, AG019610, MH60451)
- Genentech (AG024904, U01 AG024904)
- Canadian Institutes of Health Research
- Medical Research Council (U01 AG024904, K01 AG030514)
- Japan Society for the Promotion of Science (24510275, 25670415, 23591231, 24500431, 24591246, 23591234, 23659450, 23591706, 221S0002)
- National Institute on Aging (U01-AG-024904, R01AG017917, P01AG010491, P50 AG016575, AG 016976, AG05 128, P30AG010129, P30AG010133, R01AG019085, P30 AG 08051, U01‐AG10483, R01AG33193, P50 AG016576, R01AG030146, AG021547, R01 AG30146, AG036535, AG010491, R01‐AG17917, U24 AG026390, P30AG028383, R01 AG15819, P30AG012300, AG 025688, P50AG016577, U01-AG-06781, P50AG005133, R01-AG027944, AG 024904, AG 030,514, AG-034504, P30AG028377, U01AG006781, U01AG016976, P50AG005131, R01-AG019757, R01AG034504, R37-AG015473, P50AG005138, R01AG026390, P50AG016570, AG019610, K01AG030514, R01AG040770, AG036528, P50AG005128, P30AG010124, P50AG016573, AG019757, R01AG021547, R01AG041232, R01AG030653, U01AG010483, R01AG015819, P30AG008017, P30AG010161, U01AG032984, AG025259, R01AG031581, P30AG008051, R01AG041797, P50AG016582, P50AG008702, AG032984, P50AG005681, P50AG005142, P50AG008671, P30AG019610, R01AG026916, P50AG005146, P01 AG0 3991, P01AG003991, U24AG026395, P30AG013846, P50AG005136, P50AG005134, RC2AG036535, P30AG013854, R01AG025259, P50AG025688, AG026395, R01AG017173, RC2AG036528, R01AG033193, P01AG002219, AG021886, P30 AG-10133, U24AG056270, P01AG019724, U24AG021886, P30AG062421, P50AG023501, AG027944, R01AG020688, AG 030653, P50AG016574)
- National Institute of Mental Health (U01 AG024904, MH60451, R01MH080295, P50MH060451)
- National Human Genome Research Institute (U01HG004610, U01HG006375)
- National Cancer Institute (R01CA129769, U54CA137788, U54CA132378)
- National Institute of Neurological Disorders and Stroke (NS3 9764, R01NS059873, MH60451, NIMH MH60451, P50NS039764)
- National Institute of Biomedical Imaging and Bioengineering (U01 AG024904, AG024904)
- National Center for Research Resources (UL1RR02777, UL1RR029893, M01 RR 00096, M01RR000096)
- 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
- SORL1, late-onset Alzheimer's disease, genetic susceptibility, genome-wide association study, apolipoprotein E, PICALM, BIN1, Japanese, Korean language, Caucasians
- MeSH terms
- Alleles, Alzheimer Disease, Chromosome Mapping, Chromosomes, Human, Pair 11, Genotype, Humans, Japan, Odds Ratio, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, LDL-Receptor Related Proteins, Membrane Transport Proteins, White People, Asian People, Genome-Wide Association Study, Republic of Korea
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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