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 9 mapped terms
  • DOID:11830
  • ICD9:367.1
  • 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
GWAS
Dev
Eval
 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. Nature (2023)
 Myopia diagnosis Myopia 979,739
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003564/ScoringFiles/PGS003564.txt.gz
PGS019957
(prs149_myopia)
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Myopia Myopia 149
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019957/ScoringFiles/PGS019957.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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 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. Nature (2023)
 Reported Trait: Myopia diagnosis — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM038153 PGS019957
(prs149_myopia)
 PSS013845|
East Asian Ancestry|
4,352 individuals
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Reported Trait: High myopia (aged >18 years) — AUROC: 0.8 [0.78, 0.81] Odds ratio (OR, high vs low tertile): 1.3 [1.09, 1.55] age, sex —
PPM038154 PGS019957
(prs149_myopia)
 PSS013849|
East Asian Ancestry|
7,192 individuals
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Reported Trait: Moderate myopia (aged >18 years) — AUROC: 0.78 [0.77, 0.8] Odds ratio (OR, high vs low tertile): 1.23 [1.09, 1.39] age, sex —
PPM038155 PGS019957
(prs149_myopia)
 PSS013848|
East Asian Ancestry|
5,504 individuals
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Reported Trait: Mild myopia (aged >18 years) — AUROC: 0.73 [0.72, 0.75] — age, sex —
PPM038156 PGS019957
(prs149_myopia)
 PSS013846|
East Asian Ancestry|
2,060 individuals
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Reported Trait: High myopia (aged 7-18 years) — AUROC: 0.703 [0.66, 0.75] — age, sex —
PPM038157 PGS019957
(prs149_myopia)
 PSS013847|
East Asian Ancestry|
950 individuals
 PGP000847 |
Lin HJ et al. Biomedicines (2024)
 Reported Trait: High myopia (aged <6 years) — AUROC: 0.65 [0.61, 0.69] Odds ratio (OR, high vs low tertile): 1.17 [1.02, 1.34] age, sex —

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
PSS008134 — — 649 individuals — East Asian China (East Asia) UKB —
PSS010931 — — 4,366 individuals,
48.0 % Male samples
 Mean = 57.1 years
Sd = 8.0 years		 European white British 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 —
PSS008805 — — 2,021 individuals — European Italy (South Europe) UKB —
PSS007921 — — 1,344 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008579 — — 441 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009477 — — 4,226 individuals — European UK (+ Ireland) 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 —
PSS009251 — — 1,151 individuals — European Poland (NE Europe) UKB —
PSS008357 — — 2,654 individuals — South Asian India (South Asia) UKB —
PSS013845 — —
[
  • 1,089 cases
  • , 3,263 controls
]
 — East Asian
(Han Chinese)		 — NR —
PSS010763 — — 1,897 individuals,
43.0 % Male samples
 Mean = 52.2 years
Sd = 8.1 years		 African unspecified Nigerian UKB —
PSS013846 — —
[
  • 262 cases
  • , 1,798 controls
]
 — East Asian
(Han Chinese)		 — NR —
PSS013848 — —
[
  • 2,241 cases
  • , 3,263 controls
]
 — East Asian
(Han Chinese)		 — NR —
PSS013849 — —
[
  • 3,929 cases
  • , 3,263 controls
]
 — East Asian
(Han Chinese)		 — NR —
PSS010511 — — 2,626 individuals,
54.0 % Male samples
 Mean = 53.6 years
Sd = 8.4 years		 South Asian Indian UKB —
PSS013847 — —
[
  • 360 cases
  • , 590 controls
]
 — East Asian
(Han Chinese)		 — NR —
PSS010259 — — 480 individuals,
43.0 % Male samples
 Mean = 58.9 years
Sd = 6.9 years		 European Ashkenazi UKB —
PSS009025 — — 1,916 individuals — African unspecified Nigeria (West Africa) UKB —