Trait: Myopia

Trait Information
Identifier HP_0000545
Description An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Trait category
Other trait
Synonyms 4 synonyms
  • Close sighted
  • Near sighted
  • Near sightedness
  • Nearsightedness
Mapped terms 10 mapped terms
  • DOID:11830
  • ICD9:367.1
  • MSH:D009216
  • NCIt:C102533
  • OMIM:614167
  • OMIM:615420
  • OMIM:615946
  • SNOMEDCT:57190000
  • SNOMEDCT_US:57190000
  • UMLS:C0027092

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)
PGS001994
(portability-PLR_myopia)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Myopia diagnosis Myopia 30,217
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001994/ScoringFiles/PGS001994.txt.gz
PGS002211
(portability-ldpred2_myopia)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Myopia diagnosis Myopia 825,631
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002211/ScoringFiles/PGS002211.txt.gz
PGS003564
(cont-decay-myopia)
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Myopia diagnosis Myopia 979,739
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003564/ScoringFiles/PGS003564.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
PPM010827 PGS001994
(portability-PLR_myopia)
PSS009477|
European Ancestry|
4,226 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.2396 [0.2109, 0.2678] sex, age, birth date, deprivation index, 16 PCs
PPM010828 PGS001994
(portability-PLR_myopia)
PSS009251|
European Ancestry|
1,151 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.2489 [0.1934, 0.3028] sex, age, birth date, deprivation index, 16 PCs
PPM010829 PGS001994
(portability-PLR_myopia)
PSS008805|
European Ancestry|
2,021 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.2062 [0.1638, 0.2477] sex, age, birth date, deprivation index, 16 PCs
PPM010830 PGS001994
(portability-PLR_myopia)
PSS008579|
Greater Middle Eastern Ancestry|
441 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1836 [0.0896, 0.2744] sex, age, birth date, deprivation index, 16 PCs
PPM010831 PGS001994
(portability-PLR_myopia)
PSS008357|
South Asian Ancestry|
2,654 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1747 [0.1374, 0.2115] sex, age, birth date, deprivation index, 16 PCs
PPM010832 PGS001994
(portability-PLR_myopia)
PSS008134|
East Asian Ancestry|
649 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1474 [0.07, 0.223] sex, age, birth date, deprivation index, 16 PCs
PPM010833 PGS001994
(portability-PLR_myopia)
PSS007921|
African Ancestry|
1,344 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1168 [0.0633, 0.1696] sex, age, birth date, deprivation index, 16 PCs
PPM010834 PGS001994
(portability-PLR_myopia)
PSS009025|
African Ancestry|
1,916 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.0701 [0.0251, 0.1147] sex, age, birth date, deprivation index, 16 PCs
PPM012535 PGS002211
(portability-ldpred2_myopia)
PSS009477|
European Ancestry|
4,226 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.2603 [0.2319, 0.2882] sex, age, birth date, deprivation index, 16 PCs
PPM012536 PGS002211
(portability-ldpred2_myopia)
PSS009251|
European Ancestry|
1,151 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.255 [0.1997, 0.3087] sex, age, birth date, deprivation index, 16 PCs
PPM012537 PGS002211
(portability-ldpred2_myopia)
PSS008805|
European Ancestry|
2,021 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.2133 [0.1711, 0.2547] sex, age, birth date, deprivation index, 16 PCs
PPM012538 PGS002211
(portability-ldpred2_myopia)
PSS008579|
Greater Middle Eastern Ancestry|
441 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1722 [0.0779, 0.2634] sex, age, birth date, deprivation index, 16 PCs
PPM012540 PGS002211
(portability-ldpred2_myopia)
PSS008134|
East Asian Ancestry|
649 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1198 [0.042, 0.1961] sex, age, birth date, deprivation index, 16 PCs
PPM012541 PGS002211
(portability-ldpred2_myopia)
PSS007921|
African Ancestry|
1,344 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.0953 [0.0416, 0.1484] sex, age, birth date, deprivation index, 16 PCs
PPM012542 PGS002211
(portability-ldpred2_myopia)
PSS009025|
African Ancestry|
1,916 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.0638 [0.0189, 0.1085] sex, age, birth date, deprivation index, 16 PCs
PPM012539 PGS002211
(portability-ldpred2_myopia)
PSS008357|
South Asian Ancestry|
2,654 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Myopia diagnosis Partial Correlation (partial-r): 0.1654 [0.128, 0.2023] sex, age, birth date, deprivation index, 16 PCs
PPM017492 PGS003564
(cont-decay-myopia)
PSS010931|
European Ancestry|
4,366 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.06 sex, age, deprivation index, PC1-16
PPM017576 PGS003564
(cont-decay-myopia)
PSS010847|
European Ancestry|
1,145 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.06 sex, age, deprivation index, PC1-16
PPM017660 PGS003564
(cont-decay-myopia)
PSS010679|
European Ancestry|
1,967 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.06 sex, age, deprivation index, PC1-16
PPM017744 PGS003564
(cont-decay-myopia)
PSS010595|
Greater Middle Eastern Ancestry|
433 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.03 sex, age, deprivation index, PC1-16
PPM017828 PGS003564
(cont-decay-myopia)
PSS010259|
European Ancestry|
480 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.09 sex, age, deprivation index, PC1-16
PPM017912 PGS003564
(cont-decay-myopia)
PSS010511|
South Asian Ancestry|
2,626 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.03 sex, age, deprivation index, PC1-16
PPM017996 PGS003564
(cont-decay-myopia)
PSS010427|
East Asian Ancestry|
646 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.02 sex, age, deprivation index, PC1-16
PPM018080 PGS003564
(cont-decay-myopia)
PSS010343|
African Ancestry|
1,335 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.01 sex, age, deprivation index, PC1-16
PPM018164 PGS003564
(cont-decay-myopia)
PSS010763|
African Ancestry|
1,897 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Myopia diagnosis partial-R2: 0.01 sex, age, deprivation index, PC1-16

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
PSS009477 4,226 individuals European UK (+ Ireland) UKB
PSS008805 2,021 individuals European Italy (South Europe) UKB
PSS008357 2,654 individuals South Asian India (South Asia) UKB
PSS008134 649 individuals East Asian China (East Asia) UKB
PSS010847 1,145 individuals,
36.0 % Male samples
Mean = 54.7 years
Sd = 8.0 years
European Polish UKB
PSS010595 433 individuals,
55.0 % Male samples
Mean = 52.8 years
Sd = 8.2 years
Greater Middle Eastern (Middle Eastern, North African or Persian) Iranian UKB
PSS010343 1,335 individuals,
37.0 % Male samples
Mean = 52.8 years
Sd = 7.9 years
African American or Afro-Caribbean Caribbean UKB
PSS007921 1,344 individuals African American or Afro-Caribbean Carribean UKB
PSS010763 1,897 individuals,
43.0 % Male samples
Mean = 52.2 years
Sd = 8.1 years
African unspecified Nigerian UKB
PSS010511 2,626 individuals,
54.0 % Male samples
Mean = 53.6 years
Sd = 8.4 years
South Asian Indian UKB
PSS010931 4,366 individuals,
48.0 % Male samples
Mean = 57.1 years
Sd = 8.0 years
European white British UKB
PSS010259 480 individuals,
43.0 % Male samples
Mean = 58.9 years
Sd = 6.9 years
European Ashkenazi UKB
PSS010679 1,967 individuals,
44.0 % Male samples
Mean = 54.5 years
Sd = 8.6 years
European Italian UKB
PSS010427 646 individuals,
31.0 % Male samples
Mean = 53.8 years
Sd = 8.1 years
East Asian Chinese UKB
PSS009025 1,916 individuals African unspecified Nigeria (West Africa) UKB
PSS009251 1,151 individuals European Poland (NE Europe) UKB
PSS008579 441 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB