Evidence map›Paper›PMID 36520433›Full record

SynthesisJAMA network open2022

Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes.

Sang-Hyuk Jung, Hang-Rai Kim, Min Young Chun, Hyemin Jang, Minyoung Cho, Beomsu Kim, Soyeon Kim, Jee Hyang Jeong, Soo Jin Yoon, Kyung Won Park and 32 more

Registry-linked trialOpen access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in JAMA network open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07516119 (Assessing Tools That Predict and Stage Mild Cognitive Impairment), which is not on this map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
7.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07516119 recruitingnot on this mapstarted 2026, after this paper: background citation

Assessing Tools That Predict and Stage Mild Cognitive Impairment

TypeobservationalSponsorPrevention Research Consortium Corp.Ran2026 to 2029Enrolled100ConditionsMild Cognitive Impairment (MCI), Alzheimer Dementia (AD), Alzheimer Disease (AD), APOE-4 Positive
3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 43 citations in OpenAlex.

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  6. Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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  11. Alzheimer's disease polygenic risk in early- and late-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors at 20 institutions in 2 countries.

Sang-Hyuk JungDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Hang-Rai KimDepartment of Neurology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Republic of Korea.
Min Young ChunDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Hyemin JangDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Minyoung ChoDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Beomsu KimDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Soyeon KimDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Jee Hyang JeongDepartment of Neurology, Ewha Womans University Seoul Hospital, Ewha Womans University School of Medicine, Seoul, Republic of Korea.
Soo Jin YoonDepartment of Neurology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Republic of Korea.
Kyung Won ParkDepartment of Neurology, Dong-A University College of Medicine, Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan, Republic of Korea.
Eun-Joo KimDepartment of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Republic of Korea.
Bora YoonDepartment of Neurology, Konyang University College of Medicine, Daejeon, Republic of Korea.
Jae-Won JangDepartment of Neurology, Kangwon National University Hospital, Kangwon National University College of Medicine, Chuncheon, Republic of Korea.
Yeshin KimDepartment of Neurology, Kangwon National University Hospital, Kangwon National University College of Medicine, Chuncheon, Republic of Korea.
Jin Yong HongDepartment of Neurology, Yonsei University Wonju College of Medicine, Wonju, Republic of Korea.
Seong Hye ChoiDepartment of Neurology, Inha University School of Medicine, Incheon, Republic of Korea.
Young NohDepartment of Neurology, Gachon University College of Medicine, Gil Medical Center, Incheon, Republic of Korea.
Ko Woon KimDepartment of Neurology, School of Medicine, Jeonbuk National University Hospital, Jeonju, Republic of Korea.
Si Eun KimDepartment of Neurology, Inje University College of Medicine, Haeundae Paik Hospital, Busan, Republic of Korea.
Jin San LeeDepartment of Neurology, Kyung Hee University College of Medicine, Kyung Hee University Hospital, Seoul, Republic of Korea.
Na-Yeon JungDepartment of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Republic of Korea.
Juyoun LeeDepartment of Neurology, Chungnam National University Hospital, Daejeon, Republic of Korea.
Ae Young LeeDepartment of Neurology, Chungnam National University Hospital, Daejeon, Republic of Korea.
Byeong C KimDepartmet of Neurology, Chonnam National University School of Medicine, Gwangju, Republic of Korea.
Soo Hyun ChoDepartmet of Neurology, Chonnam National University School of Medicine, Gwangju, Republic of Korea.
Hanna ChoDepartment of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Jong Hun KimDepartment of Neurology, National Health Insurance Service Ilsan Hospital, Goyang, Republic of Korea.
Young Hee JungDepartment of Neurology, Myongji Hospital, Hanyang University, Goyang, Republic of Korea.
Dong Young LeeDepartment of Psychiatry, Seoul National University Hospital, Seoul, Republic of Korea.
Jae-Hong LeeDepartment of Neurology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Republic of Korea.
Eek-Sung LeeDepartment of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea.
Seung Joo KimDepartment of Neurology, Gyeongsang National University School of Medicine and Gyeongsang National University Changwon Hospital, Changwon, Republic of Korea.
So Young MoonDepartment of Neurology, Ajou University School of Medicine, Suwon, Republic of Korea.
Sang Joon SonDepartment of Psychiatry, Ajou University School of Medicine, Suwon, Republic of Korea.
Chang Hyung HongDepartment of Psychiatry, Ajou University School of Medicine, Suwon, Republic of Korea.
Jin-Sik BaeEone-Diagnomics Genome Center (EDGC), Incheon, Republic of Korea.
Sunghoon LeeEone-Diagnomics Genome Center (EDGC), Incheon, Republic of Korea.
Duk L NaDepartment of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Sang Won SeoDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St Louis, Missouri.
Hee Jin KimDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Hong-Hee WonDepartment of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Sungkyunkwan University · KRAjou University · KRSamsung Medical Center · KRChonnam National University · KRKangwon National University Hospital · KRYonsei University · KRAsan Medical Center · KRChungnam National University Hospital · KRDaejeon Eulji Medical Center, Eulji University · KRDong-A University · KREwha Womans University · KRGachon University Gil Medical Center · KRGyeongsang National University · KRInha University · KRInje University Haeundae Paik Hospital · KRJeonbuk National University · KRKonyang University · KRKyung Hee University · KRMyongji Hospital · KRNational Health Insurance Service · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Importance: Polygenic risk scores (PRSs), which aggregate the genetic effects of single-nucleotide variants identified in genome-wide association studies (GWASs), can help distinguish individuals at a high genetic risk for Alzheimer disease (AD). However, genetic studies have predominantly focused on populations of European ancestry. Objective: To evaluate the transferability of a PRS for AD in the Korean population using summary statistics from a prior GWAS of European populations. Design, Setting, and Participants: This cohort study developed a PRS based on the summary statistics of a large-scale GWAS of a European population (the International Genomics of Alzheimer Project; 21 982 AD cases and 41 944 controls). This PRS was tested for an association with AD dementia and its related phenotypes in 1634 Korean individuals, who were recruited from 2013 to 2019. The association of a PRS based on a GWAS of a Japanese population (the National Center for Geriatrics and Gerontology; 3962 AD cases and 4074 controls) and a transancestry meta-analysis of European and Japanese GWASs was also evaluated. Data were analyzed from December 2020 to June 2021. Main Outcomes and Measures: Risk of AD dementia, amnestic mild cognitive impairment (aMCI), earlier symptom onset, and amyloid β deposition (Aβ). Results: A total of 1634 Korean patients (969 women [59.3%]), including 716 individuals (43.6%) with AD dementia, 222 (13.6%) with aMCI, and 699 (42.8%) cognitively unimpaired controls, were analyzed in this study. The mean (SD) age of the participants was 71.6 (9.0) years. Higher PRS was associated with a higher risk of AD dementia independent of APOE ɛ4 status in the Korean population (OR, 1.95; 95% CI, 1.40-2.72; P < .001). Furthermore, PRS was associated with aMCI, earlier symptom onset, and Aβ deposition independent of APOE ɛ4 status. The PRS based on a transancestry meta-analysis of data sets comprising 2 distinct ancestries showed a slightly improved accuracy. Conclusions and Relevance: In this cohort study, a PRS derived from a European GWAS identified individuals at a high risk for AD dementia in the Korean population. These findings emphasize the transancestry transferability and clinical value of PRSs and suggest the importance of enriching diversity in genetic studies of AD.

Indexed as

Alzheimer DiseaseAmyloid beta-PeptidesApolipoproteins ECohort StudiesFemaleGenome-Wide Association StudyHumansPhenotypeRisk FactorsAmyloid beta-PeptidesApolipoproteins E

Identifiers

PMID36520433
PMCPMC9856322
OpenAlexW4311782097

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.