PGS Publication: PGP000503

Publication Information (EuropePMC)
Title A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in Hispanic/Latino adults in the U.S.
PubMed ID 37649099(Europe PMC)
doi 10.1186/s13195-023-01298-3
Publication Date Aug. 30, 2023
Journal Alzheimers Res Ther
Author(s) Sofer T, Kurniansyah N, Granot-Hershkovitz E, Goodman MO, Tarraf W, Broce I, Lipton RB, Daviglus M, Lamar M, Wassertheil-Smoller S, Cai J, DeCarli CS, Gonzalez HM, Fornage M.
Released in PGS Catalog: Oct. 17, 2023

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

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003957
(AD_Kunkle)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 12,002
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003957/ScoringFiles/PGS003957.txt.gz
PGS003956
(AD_Kunkle_AFR)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 157
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003956/ScoringFiles/PGS003956.txt.gz
PGS003954
(AD_FINNGEN)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 81
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003954/ScoringFiles/PGS003954.txt.gz
PGS003953
(AD_Bellenguez)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 1,937
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003953/ScoringFiles/PGS003953.txt.gz
PGS003955
(AD_Jun)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 85
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003955/ScoringFiles/PGS003955.txt.gz
PGS003958
(AD_Unweighted_PRSsum)
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Alzheimer's disease Alzheimer disease 14,109
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003958/ScoringFiles/PGS003958.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
PPM019085 PGS003955
(AD_Jun)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.15 [1.01, 1.31] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL-INCA visit, sex, study center, 5 principal components, and APOE-ϵ4 and APOE-ϵ2 allele counts —
PPM019086 PGS003957
(AD_Kunkle)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.34 [1.05, 1.71] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL-INCA visit, sex, study center, 5 principal components, and APOE-ϵ4 and APOE-ϵ2 allele counts —
PPM019087 PGS003956
(AD_Kunkle_AFR)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.14 [1.02, 1.28] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL-INCA visit, sex, study center, 5 principal components, and APOE-ϵ4 and APOE-ϵ2 allele counts —
PPM019088 PGS003953
(AD_Bellenguez)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.06 [0.96, 1.18] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL-INCA visit, sex, study center, 5 principal components, and APOE-ϵ4 and APOE-ϵ2 allele counts —
PPM019089 PGS003958
(AD_Unweighted_PRSsum)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.28 [1.12, 1.46] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL‑INCA visit, sex, study center, 5 principal components, and APOE‑E4 and APOE‑E2 allele counts —
PPM019090 PGS003953
(AD_Bellenguez)
 PSS011179|
Multi-ancestry (including European)|
23,157 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment (with Alzheimer's disease) OR: 1.13 (0.04) — — two SNPs defining the APOE alleles —
PPM019091 PGS003958
(AD_Unweighted_PRSsum)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (SEVLT recall change) β: -0.13 [-0.24, -0.02] — — APOE alleles —
PPM019092 PGS003955
(AD_Jun)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (G-Factor change) β: -0.03 [-0.06, -0.01] — — — —
PPM019093 PGS003958
(AD_Unweighted_PRSsum)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (G-Factor change) β: -0.04 [-0.06, -0.01] — — — —
PPM019094 PGS003955
(AD_Jun)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (SEVLT recall change) β: -0.09 [-0.17, -0.01] — — — —
PPM019095 PGS003957
(AD_Kunkle)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (SEVLT recall change) β: -0.2 [-0.4, 0.0] — — — —
PPM019096 PGS003956
(AD_Kunkle_AFR)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (SEVLT recall change) β: -0.08 [-0.17, 0.0] — — — —
PPM019084 PGS003954
(AD_FINNGEN)
 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.19 [1.06, 1.33] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL-INCA visit, sex, study center, 5 principal components, and APOE-ϵ4 and APOE-ϵ2 allele counts —

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
PSS011179 — — 1,005 individuals — African unspecified — MGBB —
PSS011179 — — 306 individuals — Asian unspecified — MGBB —
PSS011179 — — 20,348 individuals — European — MGBB —
PSS011179 — — 614 individuals — Hispanic or Latin American — MGBB —
PSS011179 — — 884 individuals — Not reported — MGBB —
PSS011180 — — 4,189 individuals Mean = 63.0 years Hispanic or Latin American
(Central American, South American, Mexican, Cuban, Dominican, Puerto-Rican)		 — SOL SOL-INCA: Study of Latinos-Investigation of Neurocognitive Aging