Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort

Abstract Background Plasma biomarkers offer a promising alternative to amyloid beta (Aβ) positron emission tomography (PET) or cerebrospinal fluid (CSF) biomarkers for diagnosing Alzheimer’s disease (AD). This cross-sectional study assessed the utility of multiple plasma biomarkers for diagnosing an...

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Main Authors: Masahito Kubota, Shogyoku Bun, Keisuke Takahata, Shin Kurose, Yuki Momota, Yu Iwabuchi, Toshiki Tezuka, Hajime Tabuchi, Morinobu Seki, Yasuharu Yamamoto, Ryo Shikimoto, Yu Mimura, Takayuki Hoshino, Sho Shimohama, Natsumi Suzuki, Ayaka Morimoto, Azusa Oosumi, Yuka Hoshino, Kenji Tai, Hirofumi Aoyagi, Yoshiaki Sato, Junro Kuromitsu, Jin Nakahara, Masaru Mimura, Daisuke Ito
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Alzheimer’s Research & Therapy
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Online Access:https://doi.org/10.1186/s13195-025-01778-8
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author Masahito Kubota
Shogyoku Bun
Keisuke Takahata
Shin Kurose
Yuki Momota
Yu Iwabuchi
Toshiki Tezuka
Hajime Tabuchi
Morinobu Seki
Yasuharu Yamamoto
Ryo Shikimoto
Yu Mimura
Takayuki Hoshino
Sho Shimohama
Natsumi Suzuki
Ayaka Morimoto
Azusa Oosumi
Yuka Hoshino
Kenji Tai
Hirofumi Aoyagi
Yoshiaki Sato
Junro Kuromitsu
Jin Nakahara
Masaru Mimura
Daisuke Ito
author_facet Masahito Kubota
Shogyoku Bun
Keisuke Takahata
Shin Kurose
Yuki Momota
Yu Iwabuchi
Toshiki Tezuka
Hajime Tabuchi
Morinobu Seki
Yasuharu Yamamoto
Ryo Shikimoto
Yu Mimura
Takayuki Hoshino
Sho Shimohama
Natsumi Suzuki
Ayaka Morimoto
Azusa Oosumi
Yuka Hoshino
Kenji Tai
Hirofumi Aoyagi
Yoshiaki Sato
Junro Kuromitsu
Jin Nakahara
Masaru Mimura
Daisuke Ito
author_sort Masahito Kubota
collection DOAJ
description Abstract Background Plasma biomarkers offer a promising alternative to amyloid beta (Aβ) positron emission tomography (PET) or cerebrospinal fluid (CSF) biomarkers for diagnosing Alzheimer’s disease (AD). This cross-sectional study assessed the utility of multiple plasma biomarkers for diagnosing and staging AD in a Japanese cohort. Methods The assessed plasma biomarkers included Aβ42/40, phosphorylated tau (p-tau181 and p-tau217), glial fibrillary acidic protein (GFAP), and neurofilament light chain (NfL), individually and in combination. Aβ42/40 was measured using the HISCL® platform, while all other biomarkers were measured using the Simoa® platform. Participants were classified based on Aβ PET imaging and neuropsychological testing into healthy controls (HC), AD continuum (preclinical AD, mild cognitive impairment [AD-MCI], and mild dementia [AD-D]), and non-AD cognitive impairment (CI) groups. Receiver operating characteristic analyses were performed to predict the Aβ PET status, correlation with Centiloid (CL) values and cognitive scores, and biomarker comparisons across AD stages. Results Sixty-nine HC, 13 preclinical AD, 38 AD-MCI, 44 AD-D, and 79 non-AD CI participants were included. The area under the curves (AUCs) for predicting Aβ PET status were 0.937 (Aβ42/40), 0.926 (p-tau217), and 0.946 (p-tau217/Aβ42); results of pair-wise DeLong tests revealed no significant differences among these three metrics (all p > 0.05). In the cognitively normal group, the AUCs were 0.968 (Aβ42/40), 0.958 (p-tau217), and 0.979 (p-tau217/Aβ42), while in the cognitively impaired group, they were 0.919 (Aβ42/40), 0.893 (p-tau217), and 0.923 (p-tau217/Aβ42). Among HC and AD continuum participants, CL correlations were − 0.74 (Aβ42/40), 0.81 (p-tau217), and 0.83 (p-tau217/Aβ42). In the HC and AD continuum, Aβ42/40 levels showed a bimodal distribution (cutoff = 0.096), with a shift from high to low occurring at 19.3 CL, compared to the PET positivity threshold of 32.9 CL. P-tau217 exhibited a linear increase with disease progression. All biomarkers correlated strongly with logical memory scores. Conclusions Plasma biomarkers, Aβ42/40 and p-tau217, and particularly their ratio (p-tau217/Aβ42), show strong potential as Aβ PET alternatives for AD diagnosis. HISCL-based plasma Aβ42/40 detects Aβ accumulation earlier than Aβ PET visual reading threshold, underscoring its utility as an early diagnostic marker.
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spelling doaj-art-d1fb2db857a84ba8ac82a97156d8ccff2025-08-20T02:30:45ZengBMCAlzheimer’s Research & Therapy1758-91932025-06-0117111210.1186/s13195-025-01778-8Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohortMasahito Kubota0Shogyoku Bun1Keisuke Takahata2Shin Kurose3Yuki Momota4Yu Iwabuchi5Toshiki Tezuka6Hajime Tabuchi7Morinobu Seki8Yasuharu Yamamoto9Ryo Shikimoto10Yu Mimura11Takayuki Hoshino12Sho Shimohama13Natsumi Suzuki14Ayaka Morimoto15Azusa Oosumi16Yuka Hoshino17Kenji Tai18Hirofumi Aoyagi19Yoshiaki Sato20Junro Kuromitsu21Jin Nakahara22Masaru Mimura23Daisuke Ito24Department of Neurology, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Radiology, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineEisai-Keio Innovation Laboratory for Dementia, DCV Function, DHBL, Eisai Co., LtdEisai-Keio Innovation Laboratory for Dementia, DCV Function, DHBL, Eisai Co., LtdEisai-Keio Innovation Laboratory for Dementia, DCV Function, DHBL, Eisai Co., LtdEisai-Keio Innovation Laboratory for Dementia, DCV Function, DHBL, Eisai Co., LtdDepartment of Neurology, Keio University School of MedicineDepartment of Neuropsychiatry, Keio University School of MedicineDepartment of Neurology, Keio University School of MedicineAbstract Background Plasma biomarkers offer a promising alternative to amyloid beta (Aβ) positron emission tomography (PET) or cerebrospinal fluid (CSF) biomarkers for diagnosing Alzheimer’s disease (AD). This cross-sectional study assessed the utility of multiple plasma biomarkers for diagnosing and staging AD in a Japanese cohort. Methods The assessed plasma biomarkers included Aβ42/40, phosphorylated tau (p-tau181 and p-tau217), glial fibrillary acidic protein (GFAP), and neurofilament light chain (NfL), individually and in combination. Aβ42/40 was measured using the HISCL® platform, while all other biomarkers were measured using the Simoa® platform. Participants were classified based on Aβ PET imaging and neuropsychological testing into healthy controls (HC), AD continuum (preclinical AD, mild cognitive impairment [AD-MCI], and mild dementia [AD-D]), and non-AD cognitive impairment (CI) groups. Receiver operating characteristic analyses were performed to predict the Aβ PET status, correlation with Centiloid (CL) values and cognitive scores, and biomarker comparisons across AD stages. Results Sixty-nine HC, 13 preclinical AD, 38 AD-MCI, 44 AD-D, and 79 non-AD CI participants were included. The area under the curves (AUCs) for predicting Aβ PET status were 0.937 (Aβ42/40), 0.926 (p-tau217), and 0.946 (p-tau217/Aβ42); results of pair-wise DeLong tests revealed no significant differences among these three metrics (all p > 0.05). In the cognitively normal group, the AUCs were 0.968 (Aβ42/40), 0.958 (p-tau217), and 0.979 (p-tau217/Aβ42), while in the cognitively impaired group, they were 0.919 (Aβ42/40), 0.893 (p-tau217), and 0.923 (p-tau217/Aβ42). Among HC and AD continuum participants, CL correlations were − 0.74 (Aβ42/40), 0.81 (p-tau217), and 0.83 (p-tau217/Aβ42). In the HC and AD continuum, Aβ42/40 levels showed a bimodal distribution (cutoff = 0.096), with a shift from high to low occurring at 19.3 CL, compared to the PET positivity threshold of 32.9 CL. P-tau217 exhibited a linear increase with disease progression. All biomarkers correlated strongly with logical memory scores. Conclusions Plasma biomarkers, Aβ42/40 and p-tau217, and particularly their ratio (p-tau217/Aβ42), show strong potential as Aβ PET alternatives for AD diagnosis. HISCL-based plasma Aβ42/40 detects Aβ accumulation earlier than Aβ PET visual reading threshold, underscoring its utility as an early diagnostic marker.https://doi.org/10.1186/s13195-025-01778-8Alzheimer’s diseasePlasma biomarkersAβ42/40p-tau217p-tau217/Aβ42HISCL
spellingShingle Masahito Kubota
Shogyoku Bun
Keisuke Takahata
Shin Kurose
Yuki Momota
Yu Iwabuchi
Toshiki Tezuka
Hajime Tabuchi
Morinobu Seki
Yasuharu Yamamoto
Ryo Shikimoto
Yu Mimura
Takayuki Hoshino
Sho Shimohama
Natsumi Suzuki
Ayaka Morimoto
Azusa Oosumi
Yuka Hoshino
Kenji Tai
Hirofumi Aoyagi
Yoshiaki Sato
Junro Kuromitsu
Jin Nakahara
Masaru Mimura
Daisuke Ito
Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
Alzheimer’s Research & Therapy
Alzheimer’s disease
Plasma biomarkers
Aβ42/40
p-tau217
p-tau217/Aβ42
HISCL
title Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
title_full Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
title_fullStr Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
title_full_unstemmed Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
title_short Plasma biomarkers for early detection of alzheimer’s disease: a cross-sectional study in a Japanese cohort
title_sort plasma biomarkers for early detection of alzheimer s disease a cross sectional study in a japanese cohort
topic Alzheimer’s disease
Plasma biomarkers
Aβ42/40
p-tau217
p-tau217/Aβ42
HISCL
url https://doi.org/10.1186/s13195-025-01778-8
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