Trait: male

Trait Information
Identifier PATO_0000384
Description A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes.
Trait category
Sex-specific PGS
Mapped terms 6 mapped terms
  • CARO:0000027
  • MO:652
  • MeSH:D008297
  • NCIt:C20197
  • PATO:0000384
  • SNOMEDCT:248153007

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)
PGS000319
(cPRS_M)
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 All-cause mortality (male) age at death,
male		 4,092
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000319/ScoringFiles/PGS000319.txt.gz
PGS000323
(snpnet_Testosterone_male-specific)
 PGP000097 |
Flynn E et al. Eur J Hum Genet (2020)
 Serum testosterone levels in males testosterone measurement,
male		 8,235
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000323/ScoringFiles/PGS000323.txt.gz
PGS000827
(WaistCircumference_PGS_M)
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Waist circumference (male) waist circumference,
male		 113
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000827/ScoringFiles/PGS000827.txt.gz - Check Terms/Licenses
PGS000829
(BMI_PGS_M)
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Body mass index (BMI) (male) body mass index,
male		 290
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000829/ScoringFiles/PGS000829.txt.gz - Check Terms/Licenses
PGS000901
(PRS_SBP_m)
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Systolic blood pressure (male) systolic blood pressure,
male		 1,098,015
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000901/ScoringFiles/PGS000901.txt.gz
PGS001988
(portability-PLR_M_log_testosterone)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Testosterone (male only) testosterone measurement,
male		 3,985
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001988/ScoringFiles/PGS001988.txt.gz
PGS002205
(portability-ldpred2_M_log_testosterone)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Testosterone (male only) testosterone measurement,
male		 584,991
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002205/ScoringFiles/PGS002205.txt.gz
PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
male		 6,618,190
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003407/ScoringFiles/PGS003407.txt.gz
PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
male		 6,618,190
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003410/ScoringFiles/PGS003410.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
PPM000851 PGS000319
(cPRS_M)
 PSS000410|
European Ancestry|
52,074 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: All-cause mortality (age at death in males) HR: 1.15 [1.1, 1.19] — — 10 genetic PCs —
PPM000853 PGS000319
(cPRS_M)
 PSS000410|
European Ancestry|
52,074 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: Years of life lost (males) β: 1.36 [0.98, 1.73] — — 10 genetic PCs —
PPM000855 PGS000319
(cPRS_M)
 PSS000410|
European Ancestry|
52,074 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: All-cause mortality (age at death in males) HR: 1.1 [1.04, 1.15] — — 10 genetic PCs, risk factors measured at baseline (BMI, smoking status, alcohol consumption, SBP, DBP, eGFR, total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, blood glucose, and sleep duration) —
PPM000857 PGS000319
(cPRS_M)
 PSS000410|
European Ancestry|
52,074 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: Years of life lost (males) β: 0.92 [0.43, 1.4] — — 10 genetic PCs, risk factors measured at baseline (BMI, smoking status, alcohol consumption, SBP, DBP, eGFR, total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, blood glucose, and sleep duration) —
PPM000866 PGS000323
(snpnet_Testosterone_male-specific)
 PSS000421|
European Ancestry|
28,640 individuals
 PGP000097 |
Flynn E et al. Eur J Hum Genet (2020)
 Reported Trait: Serum testosterone levels in females — — R²: 0.023 age, sex, PCs 1-40, blood draw time, fasting time, sample dilution factor, batch, genotyping array —
PPM000861 PGS000323
(snpnet_Testosterone_male-specific)
 PSS000422|
European Ancestry|
28,601 individuals
 PGP000097 |
Flynn E et al. Eur J Hum Genet (2020)
 Reported Trait: Serum testosterone levels in males — — R²: 0.31 age, sex, PCs 1-40, blood draw time, fasting time, sample dilution factor, batch, genotyping array —
PPM002234 PGS000827
(WaistCircumference_PGS_M)
 PSS001083|
Multi-ancestry (including European)|
2,531 individuals
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Reported Trait: Waist circumference (male) — — R²: 0.018 Age at baseline, sex, enrollment channel, PCs(1-7), observation season, observation vendor —
PPM002236 PGS000829
(BMI_PGS_M)
 PSS001083|
Multi-ancestry (including European)|
2,531 individuals
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Reported Trait: Body mass index (male) — — R²: 0.017 Age at baseline, sex, enrollment channel, PCs(1-7), observation season, observation vendor —
PPM002649 PGS000901
(PRS_SBP_m)
 PSS001170|
European Ancestry|
95,213 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Hypertension HR: 1.27 [1.26, 1.29] — Hazard Ratio (HR, top 2.5% vs middle 60%): 1.8 [1.69, 1.92] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM002651 PGS000901
(PRS_SBP_m)
 PSS001170|
European Ancestry|
95,213 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Early-onset hypertension (< 55 years) HR: 1.35 [1.32, 1.37] — Hazard Ratio (HR, top 2.5% vs middle 60%): 2.1 [1.94, 2.28] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM002653 PGS000901
(PRS_SBP_m)
 PSS001170|
European Ancestry|
95,213 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Late-onset hypertension (> 55 years) HR: 1.21 [1.19, 1.23] — Hazard Ratio (HR, top 2.5% vs middle 60%): 1.45 [1.3, 1.61] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM010779 PGS001988
(portability-PLR_M_log_testosterone)
 PSS009380|
European Ancestry|
7,947 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1448 [0.1232, 0.1663] sex, age, birth date, deprivation index, 16 PCs —
PPM010780 PGS001988
(portability-PLR_M_log_testosterone)
 PSS009154|
European Ancestry|
1,666 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1145 [0.0665, 0.1619] sex, age, birth date, deprivation index, 16 PCs —
PPM010781 PGS001988
(portability-PLR_M_log_testosterone)
 PSS008708|
European Ancestry|
2,641 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1082 [0.0702, 0.1459] sex, age, birth date, deprivation index, 16 PCs —
PPM010782 PGS001988
(portability-PLR_M_log_testosterone)
 PSS008482|
Greater Middle Eastern Ancestry|
485 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1329 [0.0425, 0.2212] sex, age, birth date, deprivation index, 16 PCs —
PPM010783 PGS001988
(portability-PLR_M_log_testosterone)
 PSS008260|
South Asian Ancestry|
2,486 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1284 [0.0893, 0.167] sex, age, birth date, deprivation index, 16 PCs —
PPM010784 PGS001988
(portability-PLR_M_log_testosterone)
 PSS008038|
East Asian Ancestry|
742 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0942 [0.0214, 0.1661] sex, age, birth date, deprivation index, 16 PCs —
PPM010786 PGS001988
(portability-PLR_M_log_testosterone)
 PSS008928|
African Ancestry|
1,551 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0262 [-0.0239, 0.0762] sex, age, birth date, deprivation index, 16 PCs —
PPM010785 PGS001988
(portability-PLR_M_log_testosterone)
 PSS007824|
African Ancestry|
973 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0604 [-0.0031, 0.1234] sex, age, birth date, deprivation index, 16 PCs —
PPM012487 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS009380|
European Ancestry|
7,947 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1503 [0.1287, 0.1717] sex, age, birth date, deprivation index, 16 PCs —
PPM012488 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS009154|
European Ancestry|
1,666 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1423 [0.0946, 0.1893] sex, age, birth date, deprivation index, 16 PCs —
PPM012489 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS008708|
European Ancestry|
2,641 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1259 [0.088, 0.1634] sex, age, birth date, deprivation index, 16 PCs —
PPM012490 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS008482|
Greater Middle Eastern Ancestry|
485 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1526 [0.0626, 0.2402] sex, age, birth date, deprivation index, 16 PCs —
PPM012491 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS008260|
South Asian Ancestry|
2,486 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.1129 [0.0737, 0.1517] sex, age, birth date, deprivation index, 16 PCs —
PPM012492 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS008038|
East Asian Ancestry|
742 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0935 [0.0207, 0.1654] sex, age, birth date, deprivation index, 16 PCs —
PPM012494 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS008928|
African Ancestry|
1,551 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0302 [-0.0199, 0.0802] sex, age, birth date, deprivation index, 16 PCs —
PPM012493 PGS002205
(portability-ldpred2_M_log_testosterone)
 PSS007824|
African Ancestry|
973 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (male only) — — Partial Correlation (partial-r): 0.0603 [-0.0033, 0.1233] sex, age, birth date, deprivation index, 16 PCs —
PPM017049 PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (men only) HR: 1.254 C-index: 0.571 — sex, systolic blood pressure, cigarette packs per day —
PPM017055 PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (men only) OR: 1.091 C-index: 0.762 — — —
PPM017052 PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (men only) HR: 1.199 C-index: 0.593 — sex, systolic blood pressure, cigarette packs per day —
PPM017058 PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (men only) OR: 1.165 C-index: 0.763 — — —

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
PSS009380 — — 7,947 individuals — European UK (+ Ireland) UKB —
PSS008708 — — 2,641 individuals — European Italy (South Europe) UKB —
PSS008482 — — 485 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008260 — — 2,486 individuals — South Asian India (South Asia) UKB —
PSS008038 — — 742 individuals — East Asian China (East Asia) UKB —
PSS010105 ICD codes I67.1 and I60 —
[
  • 828 cases
  • , 68,568 controls
]
 — European
(Norwegian)		 — HUNT2 —
PSS000410 The death registry data were available through November 30, 2016, for the centers in Scotland and January 31, 2018, for the centers in England and Wales. We determined whether an individual died of a particular disease by considering the ICD-10 code listed as the primary cause of death Mean = 8.7 years
Sd = 1.3 years
[
  • 2,784 cases
  • , 49,290 controls
]
,
100.0 % Male samples
 Mean (Baseline) = 57.6 years
Sd = 8.1 years		 European — UKB —
PSS000421 Blood testosterone levels (UKB field 30850). Individuals taking the following testosterone-related drugs (methyltestosterone, finasteride, dutasteride, testosterone, mesterolone, and cyproterone) were excluded. — 28,640 individuals,
0.0 % Male samples
 — European — UKB —
PSS000422 Blood testosterone levels (UKB field 30850). Individuals taking the following testosterone-related drugs (methyltestosterone, finasteride, dutasteride, testosterone, mesterolone, and cyproterone) were excluded. — 28,601 individuals,
100.0 % Male samples
 — European — UKB —
PSS007824 — — 973 individuals — African American or Afro-Caribbean Carribean UKB —
PSS001170 Cases were individuals with hypertension. Of the 28,113 cases, 14,082 had early-onset hypertension (age of onset < 55 years) whilst 14,031 had late-onset hypertension (age of onset ≥ 55 years). —
[
  • 28,113 cases
  • , 67,100 controls
]
,
100.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS008928 — — 1,551 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009154 — — 1,666 individuals — European Poland (NE Europe) UKB —
PSS001083 Of the 2,531 participants, 1,809 had longitudinal observations for total cholesterol (mg/dL), high density lipoprotein cholesterol (mg/dL) and trigycerides (mg/dL), 1,801 had longitudinal observations for low density lipoprotein cholesterol (mg/dL), 1,325 had longitudinal observations for waist circumference (inches), 2,355 had longitudinal observations for body mass index (kg/m^2) and 1,572 had longitudinal observations for homocysteine (μmol/L). — 2,531 individuals,
40.0 % Male samples
 Mean = 48.0 years
Sd = 12.0 years		 European, Asian unspecified, Hispanic or Latin American, African unspecified, NR European = 1,999, Asian unspecified = 228, Hispanic or Latin American = 101, African unspecified = 51, Not reported = 152 NR Participants were obtained from the Scientific Wellness Program.