PGS Catalog - PGS019957 / Myopia (Polygenic Score)

Polygenic Score (PGS) ID: PGS019957

Predicted Trait
Reported Trait	Myopia
Mapped Trait(s)	Myopia (HP_0000545)

Released in PGS Catalog: Aug. 26, 2026

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PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name	prs149_myopia
Development Method
Name	PRSice-2 v2.3.5
Parameters	r2 = 0.2, p < 1.0 × 10−4
Variants
Original Genome Build	NR
Number of Variants	149
Effect Weight Type	log(OR)

PGS Source
PGS Catalog Publication (PGP) ID	PGP000847
Citation (link to publication)	Lin HJ et al. Biomedicines (2024)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 98.8% East Asian: 1.1% Additional Asian Ancestries: 0.09% African: 0.02% 2,458,129 individuals (100%)
PGS Evaluation	East Asian: 100% 5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
GWAS Catalog: GCST000491 Europe PMC: 19779542	1,231 individuals	East Asian	NR
GWAS Catalog: GCST000878 Europe PMC: 21095009	980 individuals	East Asian	NR
GWAS Catalog: GCST001044 Europe PMC: 21505071	437 individuals	East Asian	NR
GWAS Catalog: GCST001088 Europe PMC: 21640322	1,088 individuals	East Asian	NR
GWAS Catalog: GCST001561 Europe PMC: 22685421	2,789 individuals	East Asian	NR
GWAS Catalog: GCST001561 Europe PMC: 22685421	2,155 individuals	South East Asian	NR
GWAS Catalog: GCST001712 Europe PMC: 23049088	1,251 individuals	European	NR
GWAS Catalog: GCST001881 Europe PMC: 23406873	1,625 individuals	East Asian	NR
GWAS Catalog: GCST002117 Europe PMC: 23933737	5,030 individuals	East Asian (China)	NR
GWAS Catalog: GCST002615 Europe PMC: 25233373	15,619 individuals	European	NR
GWAS Catalog: GCST003997 Europe PMC: 27182965	191,843 individuals	European	NR
GWAS Catalog: GCST009962 Europe PMC: 31816047	50,372 individuals	European	NR
GWAS Catalog: GCST010994 Europe PMC: 32428537	3,218 individuals	East Asian	NR
GWAS Catalog: GCST012379 Europe PMC: 34241624	527 individuals	African American or Afro-Caribbean	NR
GWAS Catalog: GCST012400 Europe PMC: 33830181	22,025 individuals	European	NR
GWAS Catalog: GCST012402 Europe PMC: 33830181	32,613 individuals	European	NR
GWAS Catalog: GCST012403 Europe PMC: 33830181	24,580 individuals	European	NR
GWAS Catalog: GCST90044218 Europe PMC: 34737426	36,623 individuals	European	UKB
GWAS Catalog: GCST90044219 Europe PMC: 34737426	36,623 individuals	European	UKB
GWAS Catalog: GCST90044220 Europe PMC: 34737426	36,623 individuals	European	UKB
GWAS Catalog: GCST90044326 Europe PMC: 34737426	455,654 individuals	European	UKB
GWAS Catalog: GCST90078393 Europe PMC: 34662886	94,332 individuals	European	UKB
GWAS Catalog: GCST90078394 Europe PMC: 34662886	94,332 individuals	European	UKB
GWAS Catalog: GCST90079388 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90079389 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90079390 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90079916 Europe PMC: 34662886	387,930 individuals	European	UKB
GWAS Catalog: GCST90082379 Europe PMC: 34662886	94,332 individuals	European	UKB
GWAS Catalog: GCST90082380 Europe PMC: 34662886	94,332 individuals	European	UKB
GWAS Catalog: GCST90083374 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90083375 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90083376 Europe PMC: 34662886	51,135 individuals	European	UKB
GWAS Catalog: GCST90083902 Europe PMC: 34662886	387,930 individuals	European	UKB
GWAS Catalog: GCST90095188 Europe PMC: 35116054	801 individuals	East Asian	NR
GWAS Catalog: GCST90134549 Europe PMC: 35841873	64,268 individuals	European	UKB
—	10,156 individuals [ 2,541 cases , 7,615 controls ] , 39.2 % Male samples	East Asian (Han Chinese)	NR

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)	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
PPM038153	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	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	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	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	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
PSS013845	—	—	4,352 individuals [ 1,089 cases , 3,263 controls ]	—	East Asian (Han Chinese)	—	NR	—
PSS013846	—	—	2,060 individuals [ 262 cases , 1,798 controls ]	—	East Asian (Han Chinese)	—	NR	—
PSS013847	—	—	950 individuals [ 360 cases , 590 controls ]	—	East Asian (Han Chinese)	—	NR	—
PSS013848	—	—	5,504 individuals [ 2,241 cases , 3,263 controls ]	—	East Asian (Han Chinese)	—	NR	—
PSS013849	—	—	7,192 individuals [ 3,929 cases , 3,263 controls ]	—	East Asian (Han Chinese)	—	NR	—