Trait: dementia

Trait Information
Identifier MONDO_0001627
Description Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 2 synonyms
  • dementia
  • dementia (disease)
Mapped terms 8 mapped terms
  • DOID:1307
  • GARD:0011946
  • ICD9:290.8
  • ICD9:294.1
  • ICD9:294.8
  • MESH:D003704
  • NCIT:C4786
  • SCTID:52448006
Child trait(s) 3 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "dementia" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000025
(GRS)
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Alzheimer's Disease Alzheimer's disease 19
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000025/ScoringFiles/PGS000025.txt.gz
PGS000026
(PHS)
PGP000016 |
Desikan RS et al. PLoS Med (2017)
Alzheimer’s Disease Alzheimer's disease 31
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000026/ScoringFiles/PGS000026.txt.gz
PGS000053
(ALZ21_NIA-LOAD)
PGP000039 |
Tosto G et al. Neurology (2017)
Alzheimer's disease (late onset) late-onset Alzheimers disease 21
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000053/ScoringFiles/PGS000053.txt.gz
PGS000054
(ALZ21_EFIGA)
PGP000039 |
Tosto G et al. Neurology (2017)
Alzheimer's disease (late onset) late-onset Alzheimers disease 21
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000054/ScoringFiles/PGS000054.txt.gz
PGS000334
(GRSfull_22)
PGP000101 |
Zhang Q et al. Nat Commun (2020)
Late-onset Alzheimer’s disease late-onset Alzheimers disease 22
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000334/ScoringFiles/PGS000334.txt.gz
PGS000779
(PGS7_AD)
PGP000183 |
Zhou X et al. Alzheimers Dement (Amst) (2020)
Alzheimer's disease Alzheimer's disease 7
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000779/ScoringFiles/PGS000779.txt.gz
PGS000811
(AD-PRS_39)
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Alzheimer's disease Alzheimer's disease 39
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000811/ScoringFiles/PGS000811.txt.gz
PGS000812
(AD-PRS_57)
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Alzheimer's disease Alzheimer's disease 57
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000812/ScoringFiles/PGS000812.txt.gz
PGS000823
(GRS23_AD)
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Alzheimer's disease Alzheimer's disease 23
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000823/ScoringFiles/PGS000823.txt.gz
PGS000876
(PRS31_AD)
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Alzheimer's disease Alzheimer's disease 31
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000876/ScoringFiles/PGS000876.txt.gz
PGS000898
(PRS39_AD)
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Alzheimer's disease Alzheimer's disease 40
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000898/ScoringFiles/PGS000898.txt.gz
PGS000929
(GBE_HC1583)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
All cause dementia (algorithmically-defined) dementia 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000929/ScoringFiles/PGS000929.txt.gz
PGS000945
(GBE_HC710)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Dementia in alzheimer's disease (time-to-event) Alzheimer's disease,
Dementia
26
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000945/ScoringFiles/PGS000945.txt.gz
PGS001179
(GBE_HC711)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Vascular dementia (time-to-event) vascular dementia 7
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001179/ScoringFiles/PGS001179.txt.gz
PGS001348
(GBE_HC1584)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Alzheimer's disease (algorithmically-defined) Alzheimer's disease 15
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001348/ScoringFiles/PGS001348.txt.gz
PGS001349
(GBE_HC807)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Alzheimer's disease (time-to-event) Alzheimer's disease 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001349/ScoringFiles/PGS001349.txt.gz
PGS001775
(PRS39_AD)
PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
Alzheimer's disease Alzheimer's disease 39
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001775/ScoringFiles/PGS001775.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000050 PGS000025
(GRS)
PSS000033|
European Ancestry|
19,687 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease HR: 1.17 [1.13, 1.21] ΔC-index between models with and without GRS: 0.0043 [0.0019, 0.0067] age at baseline, sex, education level, APOE Ɛ4 status HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000051 PGS000025
(GRS)
PSS000034|
European Ancestry|
4,353 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease in APOE Ɛ4 carriers HR: 1.24 [1.15, 1.34] ΔC-index between models with and without GRS: 0.0112 [0.0015, 0.0208] age at baseline, sex, education level HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000052 PGS000025
(GRS)
PSS000035|
European Ancestry|
15,334 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease in APOE Ɛ4 non-carriers HR: 1.13 [1.08, 1.18] ΔC-index between models with and without GRS: 0.0018 [-0.0003, 0.0039] age at baseline, sex, education level HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000053 PGS000026
(PHS)
PSS000036|
European Ancestry|
17,956 individuals
PGP000016 |
Desikan RS et al. PLoS Med (2017)
Reported Trait: Alzheimer disease r (correlation between between binned quantiles of PHS-predicted and empirical age of AD onset): 0.9 APOE risk alleles (e2 and e4), age, sex, genetic PCs 1-5
PPM000137 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7 (0.15) years
PPM000138 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.86 (0.15) years
PPM000901 PGS000334
(GRSfull_22)
PSS000449|
European Ancestry|
3,810 individuals
PGP000101 |
Zhang Q et al. Nat Commun (2020)
Reported Trait: Late-onset Alzheimer’s disease : 0.191 [0.131, 0.269] R2 = variance explained on the liability scale
PPM000133 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.37] Age, sex
PPM000134 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.38] Age, sex, APOE e4
PPM000135 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.73 [1.57, 1.93] Age, sex
PPM000136 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.71 [1.55, 1.9] Age, sex, APOE e4
PPM002216 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident dementia at age 85 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.00022 Mortality
PPM002022 PGS000779
(PGS7_AD)
PSS001005|
East Asian Ancestry|
112 individuals
PGP000183 |
Zhou X et al. Alzheimers Dement (Amst) (2020)
Reported Trait: Alzheimer's disease AUROC: 0.612 Beta (β, top 33.3% vs bottom 33.3%): 1.485 (0.602) Age, sex
PPM002023 PGS000779
(PGS7_AD)
PSS001006|
European Ancestry|
2,696 individuals
PGP000183 |
Zhou X et al. Alzheimers Dement (Amst) (2020)
Reported Trait: Alzheimer's disease AUROC: 0.717 Beta (β, top 33.3% vs bottom 33.3%): 2.283 (1.021) Age, sex, PCs(1-5)
PPM002140 PGS000811
(AD-PRS_39)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in APOE ɛ4 non-carriers HR: 1.22 [1.1, 1.35] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002141 PGS000812
(AD-PRS_57)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia HR: 1.09 [1.01, 1.19] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002142 PGS000812
(AD-PRS_57)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in APOE ɛ4 non-carriers HR: 1.15 [1.05, 1.27] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002143 PGS000811
(AD-PRS_39)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in APOE ɛ4 non-carriers aged between 70 and 94 HR: 1.16 [1.01, 1.34] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002144 PGS000811
(AD-PRS_39)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in APOE ɛ4 non-carriers aged 95 years or above HR: 1.28 [1.1, 1.5] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002145 PGS000811
(AD-PRS_39)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in APOE ɛ4 carriers aged 95 years or above HR: 0.62 [0.41, 0.95] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002146 PGS000812
(AD-PRS_57)
PSS001052|
European Ancestry|
2,052 individuals
PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Incident dementia in individuals aged 95 or above HR: 1.15 [1.01, 1.32] Age at blood sampling, birth year, sex, PCs(1-10)
PPM002215 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 80 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0056 Non-Alzheimer’s disease dementia, mortality
PPM002217 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 85 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 7.90e-14 Non-Alzheimer’s disease dementia, mortality
PPM002218 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident dementia at age 90 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 5.20e-13 Mortality
PPM002214 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 85 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0085 Non-Alzheimer’s disease dementia, mortality
PPM002219 PGS000823
(GRS23_AD)
PSS001081|
European Ancestry|
12,978 individuals
PGP000208 |
Riaz M et al. Aging Cell (2021)
|Ext.
Reported Trait: Incident all-cause dementia Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.36 [1.04, 1.76] Age at enrolment, sex
PPM002220 PGS000823
(GRS23_AD)
PSS001081|
European Ancestry|
12,978 individuals
PGP000208 |
Riaz M et al. Aging Cell (2021)
|Ext.
Reported Trait: Incident all-cause dementia Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.36 [1.04, 1.77] Age at enrolment, sex, competing risk of death
PPM002504 PGS000026
(PHS)
PSS001127|
European Ancestry|
8,415 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
|Ext.
Reported Trait: Age at Alzheimer's disease onset β: 0.11 (0.02) Gender, PCs (1-3), APOE(ε2 + ε4) Due to SNP availability issues in the dataset, only 25 out of the 31 variants in Desikan et al's polygenic hazard score (PGS000026) were used. No APOE alleles were included
PPM002505 PGS000876
(PRS31_AD)
PSS001127|
European Ancestry|
8,415 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset β: 0.13 (0.02) Gender, PCs (1-3), APOE(ε2 + ε4) Due to SNP availability issues in the dataset, only 25 out of the 31 variants used to construct the polygenic risk score were used.
PPM002506 PGS000876
(PRS31_AD)
PSS001125|
European Ancestry|
9,903 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset β: 0.28 (0.04) Gender, PCs (1-3), APOE ε2, APOE ε4
PPM002507 PGS000876
(PRS31_AD)
PSS001126|
European Ancestry|
4,100 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset in individuals above the age of 55 β: 0.29 (0.03) Gender, PCs (1-3), APOE ε2, APOE ε4
PPM002634 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (clinically confirmed) OR: 1.3 [1.18, 1.44] PCs(1-4)
PPM002635 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed) OR: 1.38 [1.21, 1.58] PCs(1-4)
PPM002636 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed, males) OR: 1.33 [1.13, 1.56] PCs(1-4)
PPM002637 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Alzheimer's disease (pathologically confirmed, females) OR: 1.32 [1.19, 1.47] PCs(1-4)
PPM002638 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Early-onset Alzheimer's disease (< 65 years) OR: 1.58 [1.22, 2.05] PCs(1-4)
PPM002639 PGS000898
(PRS39_AD)
PSS001167|
European Ancestry|
2,394 individuals
PGP000231 |
de Rojas I et al. Nat Commun (2021)
Reported Trait: Late-onset Alzheimer's disease (> 85 years) OR: 1.29 [1.1, 1.51] PCs(1-4)
PPM009238 PGS001775
(PRS39_AD)
PSS007663|
European Ancestry|
532 individuals
PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Other dementia (excluding all-type dementia and Alzheimer's disease) HR: 0.5 [0.3, 0.9] Age, sex, population substructure, Mini‐Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia)
PPM009237 PGS001775
(PRS39_AD)
PSS007663|
European Ancestry|
532 individuals
PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
Reported Trait: Alzheimer's disease dementia HR: 1.7 [1.1, 2.8] Age, sex, population substructure, Mini‐Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia)
PPM007472 PGS000929
(GBE_HC1583)
PSS004302|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD all cause dementia AUROC: 0.87071 [0.81635, 0.92507] : 0.20833
Incremental AUROC (full-covars): 0.0113
PGS R2 (no covariates): 0.01979
PGS AUROC (no covariates): 0.61107 [0.52126, 0.70088]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007473 PGS000929
(GBE_HC1583)
PSS004303|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD all cause dementia AUROC: 0.95182 [0.90381, 0.99984] : 0.22288
Incremental AUROC (full-covars): 0.00617
PGS R2 (no covariates): 0.01638
PGS AUROC (no covariates): 0.54656 [0.0, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007474 PGS000929
(GBE_HC1583)
PSS004304|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD all cause dementia AUROC: 0.81502 [0.78, 0.85005] : 0.12968
Incremental AUROC (full-covars): 0.00636
PGS R2 (no covariates): 0.01492
PGS AUROC (no covariates): 0.59229 [0.54215, 0.64242]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007475 PGS000929
(GBE_HC1583)
PSS004305|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD all cause dementia AUROC: 0.82116 [0.74776, 0.89457] : 0.1345
Incremental AUROC (full-covars): 0.00919
PGS R2 (no covariates): 0.02074
PGS AUROC (no covariates): 0.56393 [0.44983, 0.67804]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007476 PGS000929
(GBE_HC1583)
PSS004306|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD all cause dementia AUROC: 0.81557 [0.79434, 0.8368] : 0.11649
Incremental AUROC (full-covars): 0.02294
PGS R2 (no covariates): 0.02346
PGS AUROC (no covariates): 0.62703 [0.59629, 0.65777]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007551 PGS000945
(GBE_HC710)
PSS004614|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE dementia in alzheimer's disease AUROC: 0.98515 [0.97381, 0.9965] : 0.33632
Incremental AUROC (full-covars): 0.00807
PGS R2 (no covariates): 0.02667
PGS AUROC (no covariates): 0.7414 [0.59579, 0.88702]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007552 PGS000945
(GBE_HC710)
PSS004615|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE dementia in alzheimer's disease AUROC: 0.8807 [0.81377, 0.94763] : 0.16889
Incremental AUROC (full-covars): 0.0235
PGS R2 (no covariates): 0.04331
PGS AUROC (no covariates): 0.66609 [0.55451, 0.77766]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007553 PGS000945
(GBE_HC710)
PSS004616|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE dementia in alzheimer's disease AUROC: 0.9584 [0.92052, 0.99629] : 0.25982
Incremental AUROC (full-covars): 0.0131
PGS R2 (no covariates): 0.0675
PGS AUROC (no covariates): 0.67849 [0.36185, 0.99513]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007554 PGS000945
(GBE_HC710)
PSS004617|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE dementia in alzheimer's disease AUROC: 0.8916 [0.86249, 0.9207] : 0.16679
Incremental AUROC (full-covars): 0.05458
PGS R2 (no covariates): 0.06543
PGS AUROC (no covariates): 0.75273 [0.69847, 0.80699]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008585 PGS001179
(GBE_HC711)
PSS004618|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE vascular dementia AUROC: 0.89609 [0.78011, 1.0] : 0.23133
Incremental AUROC (full-covars): -0.00271
PGS R2 (no covariates): 0.00098
PGS AUROC (no covariates): 0.45314 [0.26337, 0.6429]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008586 PGS001179
(GBE_HC711)
PSS004619|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE vascular dementia AUROC: 0.86436 [0.80883, 0.91989] : 0.14328
Incremental AUROC (full-covars): 0.00289
PGS R2 (no covariates): 0.00776
PGS AUROC (no covariates): 0.59245 [0.49395, 0.69095]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008587 PGS001179
(GBE_HC711)
PSS004620|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE vascular dementia AUROC: 0.83842 [0.72824, 0.9486] : 0.14604
Incremental AUROC (full-covars): 0.00843
PGS R2 (no covariates): 0.0135
PGS AUROC (no covariates): 0.61894 [0.47358, 0.76431]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008588 PGS001179
(GBE_HC711)
PSS004621|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE vascular dementia AUROC: 0.82562 [0.78593, 0.86531] : 0.10475
Incremental AUROC (full-covars): 0.00707
PGS R2 (no covariates): 0.01123
PGS AUROC (no covariates): 0.61306 [0.55366, 0.67245]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009221 PGS001348
(GBE_HC1584)
PSS004307|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD alzheimer's disease AUROC: 0.96694 [0.94819, 0.98568] : 0.31464
Incremental AUROC (full-covars): 0.01598
PGS R2 (no covariates): 0.04322
PGS AUROC (no covariates): 0.69389 [0.49462, 0.89316]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009222 PGS001348
(GBE_HC1584)
PSS004309|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD alzheimer's disease AUROC: 0.8626 [0.81314, 0.91206] : 0.15552
Incremental AUROC (full-covars): 0.03113
PGS R2 (no covariates): 0.05179
PGS AUROC (no covariates): 0.66389 [0.57085, 0.75693]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009223 PGS001348
(GBE_HC1584)
PSS004310|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD alzheimer's disease AUROC: 0.91522 [0.82612, 1.0] : 0.23563
Incremental AUROC (full-covars): 0.0091
PGS R2 (no covariates): 0.01731
PGS AUROC (no covariates): 0.59348 [0.39906, 0.7879]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009224 PGS001348
(GBE_HC1584)
PSS004311|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: AD alzheimer's disease AUROC: 0.8686 [0.84242, 0.89478] : 0.1517
Incremental AUROC (full-covars): 0.05292
PGS R2 (no covariates): 0.05685
PGS AUROC (no covariates): 0.72349 [0.67813, 0.76886]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009225 PGS001349
(GBE_HC807)
PSS004632|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE alzheimer's disease AUROC: 0.96248 [0.93046, 0.9945] : 0.31063
Incremental AUROC (full-covars): 0.00757
PGS R2 (no covariates): 0.03204
PGS AUROC (no covariates): 0.63583 [0.42385, 0.84781]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009226 PGS001349
(GBE_HC807)
PSS004634|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE alzheimer's disease AUROC: 0.86841 [0.82079, 0.91602] : 0.16057
Incremental AUROC (full-covars): 0.03323
PGS R2 (no covariates): 0.05188
PGS AUROC (no covariates): 0.67961 [0.58969, 0.76952]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009227 PGS001349
(GBE_HC807)
PSS004635|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE alzheimer's disease AUROC: 0.9136 [0.8364, 0.9908] : 0.24293
Incremental AUROC (full-covars): 0.00891
PGS R2 (no covariates): 0.01019
PGS AUROC (no covariates): 0.53145 [0.34417, 0.71873]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009228 PGS001349
(GBE_HC807)
PSS004636|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE alzheimer's disease AUROC: 0.8666 [0.84246, 0.89075] : 0.15418
Incremental AUROC (full-covars): 0.04665
PGS R2 (no covariates): 0.05271
PGS AUROC (no covariates): 0.71238 [0.66844, 0.75632]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000084 EFIGA recruited patients from families multiply affected by LOAD, but of Caribbean Hispanic ancestry from the Dominican Republic and New York. Families were recruited after confirming diagnoses in the probands. Family members with dementia were also interviewed and neurologically evaluated. Clinical diagnoses were made in a consensus diagnostic conference by a panel of neurologists, neuropsychologists, and psychiatrists. Detailed description is available elsewhere.14 For these family-based studies, we included data from families for which their members (1) were 60 years or older at the time of enrollment; (2) had a diagnosis of probable or possible LOAD according to National Institute of Neurological and Communicative Disorders and Stroke–Alzheimer’s Disease and Related Disorders Association (NINDS-ADRDA) criteria; (3) had available pedigree information and covariates.
[
  • 2,155 cases
  • , 1,169 controls
]
,
34.0 % Male samples
Hispanic or Latin American Samples are described as "Carribbean Hispanic" EFIGA
PSS000085 Selection criteria included (1) a proband who received a dianosis of definite or probable late onset Alzheimer's Disease (LOAD) with age at onset of at least 60 years; (2) a full sibling with definite, probable, or possible LOAD with age at onset after 60 years; (3) a related family member (first-,second-,or third-degree relative) of theaffected sibling pair and 60 years or older if unaffected, or 50 years or older if dianosed with LOAD or mild cognitive impairment (MCI)
[
  • 2,128 cases
  • , 2,664 controls
]
,
38.0 % Male samples
European NIA-LOAD
PSS004302
[
  • 45 cases
  • , 6,452 controls
]
African unspecified UKB
PSS004303
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004304
[
  • 141 cases
  • , 24,764 controls
]
European non-white British ancestry UKB
PSS001080 Cases included incident Alzheimer's disease (AD) and other types of incident dementia. Of the 1,609 dementia cases, 1,262 were individuals with AD and 347 were individuals with other types of dementia excluding AD. A consensus panel led by a consultant neurologist established the final diagnosis according to standard criteria for dementia (Diagnostic and Statistical Manual of Mental Disorders III-revised) and Alzheimer’s disease (National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer’s Disease and Related Disorders Association). Of the total 12,255 individuals, APOE genotypes were available for 11,375. From those genotyped, 261 individuals were homozygous for APOE ε4 (ε4/ε4). Of the 261 ε4/ε4 individuals, 72 had AD whilst 11 had other types of dementia excluding AD. Median = 10.9 years
[
  • 1,609 cases
  • , 10,646 controls
]
,
41.5 % Male samples
European
(Dutch)
RS
PSS001081 Cases were individuals with incident-all cause dementia. Dementia was diagnosed using Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria. Diagnosis date was recorded as date of trigger. Dementia cases were sub-classified into either 'probable Alzheimer's Disease (AD)', 'possible AD' or 'non-dementia AD' using the 2011 NIA-Alzheimer's Association core clinical criteria. Of the 324 cases, 143 were classified as 'probable AD', 176 were classified as 'possible AD' and 5 were classified as 'non-AD related dementia'. Median = 4.5 years
IQR = [2.1, 5.7] years
[
  • 324 cases
  • , 12,654 controls
]
,
45.0 % Male samples
Mean = 75.05 years
Sd = 4.2 years
European ASPREE
PSS004305
[
  • 34 cases
  • , 7,797 controls
]
South Asian UKB
PSS004306
[
  • 358 cases
  • , 67,067 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004307
[
  • 11 cases
  • , 6,486 controls
]
African unspecified UKB
PSS004309
[
  • 45 cases
  • , 24,860 controls
]
European non-white British ancestry UKB
PSS004310
[
  • 11 cases
  • , 7,820 controls
]
South Asian UKB
PSS004311
[
  • 134 cases
  • , 67,291 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000449
[
  • 216 cases
  • , 631 controls
]
,
54.7 % Male samples
Mean (Cases) = 77.6 years
Sd (Cases) = 7.6 years
European ABIL
PSS007663 Cases were individuals with dementia. Of the 82 cases with dementia, 41 had all-type dementia, 25 had Alzheimer's disease (AD) dementia and 16 had other types of dementia.
[
  • 82 cases
  • , 450 controls
]
European AmDem, SCIENCe
PSS001167 Cases were individuals with pathologically or clinically diagnosed Alzheimer's disease (AD). Of the 1008 AD cases, 332 had been confirmed pathologically whilst 676 had been confirmed clinically. Pathological AD was confirmed by the Biobanc Hospital Clínic–IDIBAPS, whilst clinical diagnosis of AD was based on clinical criteria from Fundació ACE.
[
  • 1,008 cases
  • , 1,386 controls
]
,
29.2 % Male samples
European
(Spanish)
EADB
PSS004614
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004615
[
  • 27 cases
  • , 24,878 controls
]
European non-white British ancestry UKB
PSS004616
[
  • 6 cases
  • , 7,825 controls
]
South Asian UKB
PSS004617
[
  • 80 cases
  • , 67,345 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004618
[
  • 12 cases
  • , 6,485 controls
]
African unspecified UKB
PSS004619
[
  • 36 cases
  • , 24,869 controls
]
European non-white British ancestry UKB
PSS004620
[
  • 16 cases
  • , 7,815 controls
]
South Asian UKB
PSS004621
[
  • 97 cases
  • , 67,328 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001052 The diagnosis of dementia at each examination was based on Diagnostic and Statistical Manual of Mental Disorders Third Edition‐Revised (DSM‐III‐R) criteria, using information from neuropsychiatric examinations and close informant interviews. Dementia diagnoses for individuals lost to follow‐up were based on information obtained from the Swedish Inpatient Registry until 2012. Age of dementia onset was based on information provided by close informants, the examinations, and the Swedish Inpatient Register. If no information could be obtained from these sources, the age of onset was determined as the mid‐point between the last examination at which dementia criteria were not fulfilled and the first with a dementia diagnosis. Information on deaths during follow‐up was obtained from the Swedish Population Registry until December 31, 2016. Of the 605 dementia cases, 182 were carriers of an APOE ɛ4 allele. Mean = 7.2 years
Sd = 4.7 years
[
  • 605 cases
  • , 1,447 controls
]
European NR Gothenburg H70 Birth Cohort studies
PSS004632
[
  • 11 cases
  • , 6,486 controls
]
African unspecified UKB
PSS004634
[
  • 47 cases
  • , 24,858 controls
]
European non-white British ancestry UKB
PSS004635
[
  • 13 cases
  • , 7,818 controls
]
South Asian UKB
PSS004636
[
  • 153 cases
  • , 67,272 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001005 Cases include individuals with Alzheimer's disease (AD) The phenotypes of the participants were determined on the basis of the most recent diagnostic records (until December 2019).
[
  • 33 cases
  • , 79 controls
]
,
54.29 % Male samples
East Asian
(Chinese)
NR Participants recruited from the Specialist Outpatient Department of Prince of Wales Hospital.
PSS001006 Cases include individuals with Alzheimer's disease (AD). Patients with definite AD have been diagnosed according to established neuropathological criteria (CERAD, Braak, Khachaturian, NIA-RI, or other established criteria).
[
  • 464 cases
  • , 2,232 controls
]
,
37.62 % Male samples
European LOAD
PSS000033 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria.
[
  • 2,782 cases
]
European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000034 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria. 4,353 individuals European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000035 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria. 15,334 individuals European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000036 Cases are patients with clinically diagnosed AD and compared to cognitively normal older individuals
[
  • 6,984 cases
  • , 10,972 controls
]
,
40.51 % Male samples
European ADGC ADGC Phase 2
PSS001125 Cases included individuals with Alzheimer's disease.
[
  • 2,626 cases
  • , 7,277 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
PSS001126 All individuals were aged 55 and above. Cases include individuals with Alzheimer's disease.
[
  • 2,575 cases
  • , 1,525 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
PSS001127 Cases included individuals with Alzheimer's disease.
[
  • 2,384 cases
  • , 6,031 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
PSS000449
[
  • 77 cases
  • , 588 controls
]
,
44.4 % Male samples
Mean (Cases) = 86.8 years
Sd (Cases) = 4.6 years
European MAS
PSS000449
[
  • 383 cases
  • , 1,915 controls
]
,
47.0 % Male samples
Mean (Cases) = 64.4 years
Sd (Cases) = 4.5 years
European UKB