Trait: age-related macular degeneration

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001365
Description Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 46 synonyms
  • AAMD - Age related macular degeneration
  • AGE RELAT MACULOPATHIES
  • AGE RELAT MACULOPATHY
  • AMD
  • AMD - Age-related macular degeneration
  • ARMD
  • ARMD - Age-related macular degeneration
  • Age Related Macular Degeneration
  • Age Related Maculopathies
  • Age related macular degeneration (disorder) [Ambiguous]
  • Age related maculopathy
  • Age-Related Macular Degenerations
  • Age-Related Maculopathies
  • Age-Related Maculopathy
  • Age-related macular degeneration (disorder)
  • Amended
  • Degeneration, Age-Related Macular
  • Degeneration, Macular
  • Degenerations, Age-Related Macular
  • Degenerations, Macular
  • Dystrophies, Macular
  • Dystrophy, Macular
  • MACULAR DEGENERATION NOS
  • MACULOPATHIES AGE RELAT
  • MACULOPATHY AGE RELAT
  • Macular Degeneration
  • Macular Degeneration, Age-Related
  • Macular Degenerations
  • Macular Degenerations, Age-Related
  • Macular Dystrophies
  • Macular Dystrophy
  • Macular degeneration (disorder)
  • Macular degeneration (senile) of retina, unspecified
  • Maculopathies, Age Related
  • Maculopathies, Age-Related
  • Maculopathy, Age Related
  • Maculopathy, Age-Related
  • SMD - Senile macular degeneration
  • Senile macular degeneration
  • Senile macular degeneration of retina
  • Senile macular retinal degeneration
  • Unspecified senile macular degeneration
  • age related Maculopathies
  • age related maculopathy
  • age-related macular degeneration
  • macular degeneration, age-related
Mapped terms 32 mapped terms
  • DOID:10871
  • DOID:4448
  • ICD9:362.50
  • MONDO:0005150
  • MeSH:D008268
  • MedDRA:10064930
  • NCIT:C84391
  • NCIt:C25416
  • NCIt:C84391
  • NIFSTD:birnlex_12812
  • OMIM:153800
  • OMIM:603075
  • OMIM:608895
  • OMIM:610149
  • OMIM:610698
  • OMIM:611378
  • OMIM:611488
  • OMIM:611953
  • OMIM:613757
  • OMIM:613761
  • OMIM:613778
  • OMIM:613784
  • OMIM:615439
  • OMIM:615489
  • OMIM:615591
  • OMIM:616118
  • OMIM:616170
  • OMIMPS:603075
  • Orphanet:279
  • SCTID:267718000
  • SNOMEDCT:267718000
  • UMLS:C0242383

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001834
(portability-PLR_362.29)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Macular degeneration (senile) of retina NOS age-related macular degeneration 157
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz
PGS002041
(portability-ldpred2_362.29)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Macular degeneration (senile) of retina NOS age-related macular degeneration 116,538
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002041/ScoringFiles/PGS002041.txt.gz
PGS002269
(PRS47_AMD)
PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
Age-related macular degeneration age-related macular degeneration 47
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002269/ScoringFiles/PGS002269.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
PPM009565 PGS001834
(portability-PLR_362.29)
PSS009078|
European Ancestry|
4,043 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0258 [-0.0051, 0.0567] sex, age, birth date, deprivation index, 16 PCs
PPM009566 PGS001834
(portability-PLR_362.29)
PSS008632|
European Ancestry|
6,470 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0177 [-0.0067, 0.0421] sex, age, birth date, deprivation index, 16 PCs
PPM009567 PGS001834
(portability-PLR_362.29)
PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): -0.03 [-0.0877, 0.028] sex, age, birth date, deprivation index, 16 PCs
PPM009568 PGS001834
(portability-PLR_362.29)
PSS008186|
South Asian Ancestry|
6,037 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0368 [0.0116, 0.062] sex, age, birth date, deprivation index, 16 PCs
PPM009569 PGS001834
(portability-PLR_362.29)
PSS007970|
East Asian Ancestry|
1,775 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): -0.0304 [-0.0771, 0.0164] sex, age, birth date, deprivation index, 16 PCs
PPM009570 PGS001834
(portability-PLR_362.29)
PSS007752|
African Ancestry|
2,374 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0015 [-0.0389, 0.0419] sex, age, birth date, deprivation index, 16 PCs
PPM009571 PGS001834
(portability-PLR_362.29)
PSS008856|
African Ancestry|
3,723 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0144 [-0.0178, 0.0466] sex, age, birth date, deprivation index, 16 PCs
PPM009564 PGS001834
(portability-PLR_362.29)
PSS009304|
European Ancestry|
19,413 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0175 [0.0034, 0.0315] sex, age, birth date, deprivation index, 16 PCs
PPM011195 PGS002041
(portability-ldpred2_362.29)
PSS009078|
European Ancestry|
4,043 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0248 [-0.0061, 0.0556] sex, age, birth date, deprivation index, 16 PCs
PPM011196 PGS002041
(portability-ldpred2_362.29)
PSS008632|
European Ancestry|
6,470 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0179 [-0.0065, 0.0423] sex, age, birth date, deprivation index, 16 PCs
PPM011197 PGS002041
(portability-ldpred2_362.29)
PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): -0.0344 [-0.0921, 0.0236] sex, age, birth date, deprivation index, 16 PCs
PPM011198 PGS002041
(portability-ldpred2_362.29)
PSS008186|
South Asian Ancestry|
6,037 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0372 [0.0119, 0.0624] sex, age, birth date, deprivation index, 16 PCs
PPM011199 PGS002041
(portability-ldpred2_362.29)
PSS007970|
East Asian Ancestry|
1,775 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): -0.0312 [-0.0779, 0.0156] sex, age, birth date, deprivation index, 16 PCs
PPM011200 PGS002041
(portability-ldpred2_362.29)
PSS007752|
African Ancestry|
2,374 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0038 [-0.0366, 0.0442] sex, age, birth date, deprivation index, 16 PCs
PPM011201 PGS002041
(portability-ldpred2_362.29)
PSS008856|
African Ancestry|
3,723 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.018 [-0.0143, 0.0501] sex, age, birth date, deprivation index, 16 PCs
PPM011194 PGS002041
(portability-ldpred2_362.29)
PSS009304|
European Ancestry|
19,413 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Macular degeneration (senile) of retina NOS Partial Correlation (partial-r): 0.0159 [0.0018, 0.0299] sex, age, birth date, deprivation index, 16 PCs
PPM012920 PGS002269
(PRS47_AMD)
PSS009618|
Multi-ancestry (including European)|
44,823 individuals
PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
Reported Trait: Rentinal layer thickness (photoreceptor inner and outer segments) β: -0.21 [-0.23, -0.19] Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry
PPM012921 PGS002269
(PRS47_AMD)
PSS009618|
Multi-ancestry (including European)|
44,823 individuals
PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
Reported Trait: Rentinal layer thickness (retinal pigment epithelium and Bruch’s membrane complex) β: -0.14 [-0.16, -0.12] Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry
PPM012922 PGS002269
(PRS47_AMD)
PSS009618|
Multi-ancestry (including European)|
44,823 individuals
PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
Reported Trait: Rentinal layer thickness (choroid-sclera interface) β: -0.03 [-0.06, -0.01] Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry

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
PSS007752 2,374 individuals African American or Afro-Caribbean Carribean UKB
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment 44,253 individuals European UKB
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment 40 individuals South Asian UKB
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment 530 individuals Not reported UKB
PSS009078 4,043 individuals European Poland (NE Europe) UKB
PSS008406 1,165 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008632 6,470 individuals European Italy (South Europe) UKB
PSS008856 3,723 individuals African unspecified Nigeria (West Africa) UKB
PSS008186 6,037 individuals South Asian India (South Asia) UKB
PSS009304 19,413 individuals European UK (+ Ireland) UKB
PSS007970 1,775 individuals East Asian China (East Asia) UKB