Trait: female

Trait Information
Identifier PATO_0000383
Description A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes.
Trait category
Sex-specific PGS
Mapped terms 6 mapped terms
  • CARO:0000028
  • MO:506
  • MeSH:D005260
  • NCIt:C16576
  • PATO:0000383
  • SNOMEDCT:248152002

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)
PGS000318
(cPRS_F)
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 All-cause mortality (female) age at death,
female		 4,122
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000318/ScoringFiles/PGS000318.txt.gz
PGS000322
(snpnet_Testosterone_female-specific)
 PGP000097 |
Flynn E et al. Eur J Hum Genet (2020)
 Serum testosterone levels in females testosterone measurement,
female		 7,168
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000322/ScoringFiles/PGS000322.txt.gz
PGS000828
(WaistCircumference_PGS_F)
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Waist circumference (female) waist circumference,
female		 149
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000828/ScoringFiles/PGS000828.txt.gz - Check Terms/Licenses
PGS000830
(BMI_PGS_F)
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Body mass index (BMI) (female) body mass index,
female		 372
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000830/ScoringFiles/PGS000830.txt.gz - Check Terms/Licenses
PGS000900
(PRS_SBP_f)
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Systolic blood pressure (female) systolic blood pressure,
female		 1,098,015
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000900/ScoringFiles/PGS000900.txt.gz
PGS001914
(portability-PLR_F_log_testosterone)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Testosterone (female only) testosterone measurement,
female		 18,179
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001914/ScoringFiles/PGS001914.txt.gz
PGS002130
(portability-ldpred2_F_log_testosterone)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Testosterone (female only) testosterone measurement,
female		 650,195
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002130/ScoringFiles/PGS002130.txt.gz
PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
female		 6,671,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003408/ScoringFiles/PGS003408.txt.gz
PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
female		 6,671,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003411/ScoringFiles/PGS003411.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
PPM000850 PGS000318
(cPRS_F)
 PSS000409|
European Ancestry|
60,308 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: All-cause mortality (age at death in females) HR: 1.1 [1.05, 1.16] — — 10 genetic PCs —
PPM000852 PGS000318
(cPRS_F)
 PSS000409|
European Ancestry|
60,308 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: Years of life lost (females) β: 0.97 [0.5, 1.44] — — 10 genetic PCs —
PPM000854 PGS000318
(cPRS_F)
 PSS000409|
European Ancestry|
60,308 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: All-cause mortality (age at death in females) HR: 1.06 [0.99, 1.13] — — 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) —
PPM000856 PGS000318
(cPRS_F)
 PSS000409|
European Ancestry|
60,308 individuals
 PGP000095 |
Meisner A et al. Am J Hum Genet (2020)
 Reported Trait: Years of life lost (females) β: 0.58 [-0.11, 1.26] — — 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) —
PPM038954 PGS000318
(cPRS_F)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01313 — — — —
PPM000864 PGS000322
(snpnet_Testosterone_female-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: 0.18 age, sex, PCs 1-40, blood draw time, fasting time, sample dilution factor, batch, genotyping array —
PPM000863 PGS000322
(snpnet_Testosterone_female-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: 0.02 age, sex, PCs 1-40, blood draw time, fasting time, sample dilution factor, batch, genotyping array —
PPM039168 PGS000322
(snpnet_Testosterone_female-specific)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.00964 — — — —
PPM002233 PGS000828
(WaistCircumference_PGS_F)
 PSS001083|
Multi-ancestry (including European)|
2,531 individuals
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Reported Trait: Waist circumference (female) — — R²: 0.032 Age at baseline, sex, enrollment channel, PCs(1-7), observation season, observation vendor —
PPM002235 PGS000830
(BMI_PGS_F)
 PSS001083|
Multi-ancestry (including European)|
2,531 individuals
 PGP000210 |
Zubair N et al. Sci Rep (2019)
 Reported Trait: Body mass index (female) — — R²: 0.027 Age at baseline, sex, enrollment channel, PCs(1-7), observation season, observation vendor —
PPM038886 PGS000830
(BMI_PGS_F)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01479 — — — —
PPM002648 PGS000900
(PRS_SBP_f)
 PSS001169|
European Ancestry|
123,579 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Hypertension HR: 1.42 [1.4, 1.44] — Hazard Ratio (HR, top 2.5% vs middle 60%): 2.12 [1.99, 2.25] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM002650 PGS000900
(PRS_SBP_f)
 PSS001169|
European Ancestry|
123,579 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Early-onset hypertension (< 55 years) HR: 1.56 [1.53, 1.58] — Hazard Ratio (HR, top 2.5% vs middle 60%): 2.51 [2.32, 2.72] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM002652 PGS000900
(PRS_SBP_f)
 PSS001169|
European Ancestry|
123,579 individuals
 PGP000233 |
Kauko A et al. Hypertension (2021)
 Reported Trait: Late-onset hypertension (> 55 years) HR: 1.31 [1.28, 1.33] — Hazard Ratio (HR, top 2.5% vs middle 60%): 1.66 [1.5, 1.84] Age as timescale, collection year, genotyping batch, PCs(1-10) —
PPM038872 PGS000900
(PRS_SBP_f)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: -0.01534 — — — —
PPM010195 PGS001914
(portability-PLR_F_log_testosterone)
 PSS009374|
European Ancestry|
9,296 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1628 [0.143, 0.1826] sex, age, birth date, deprivation index, 16 PCs —
PPM010197 PGS001914
(portability-PLR_F_log_testosterone)
 PSS008702|
European Ancestry|
3,123 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1116 [0.0767, 0.1462] sex, age, birth date, deprivation index, 16 PCs —
PPM010198 PGS001914
(portability-PLR_F_log_testosterone)
 PSS008476|
Greater Middle Eastern Ancestry|
562 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.2041 [0.122, 0.2835] sex, age, birth date, deprivation index, 16 PCs —
PPM010199 PGS001914
(portability-PLR_F_log_testosterone)
 PSS008254|
South Asian Ancestry|
2,976 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1494 [0.114, 0.1845] sex, age, birth date, deprivation index, 16 PCs —
PPM010200 PGS001914
(portability-PLR_F_log_testosterone)
 PSS008032|
East Asian Ancestry|
855 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.0621 [-0.0058, 0.1294] sex, age, birth date, deprivation index, 16 PCs —
PPM010201 PGS001914
(portability-PLR_F_log_testosterone)
 PSS007818|
African Ancestry|
1,112 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.0967 [0.0376, 0.1551] sex, age, birth date, deprivation index, 16 PCs —
PPM010202 PGS001914
(portability-PLR_F_log_testosterone)
 PSS008922|
African Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.0739 [0.0276, 0.1198] sex, age, birth date, deprivation index, 16 PCs —
PPM010196 PGS001914
(portability-PLR_F_log_testosterone)
 PSS009148|
European Ancestry|
1,918 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1364 [0.092, 0.1803] sex, age, birth date, deprivation index, 16 PCs —
PPM011897 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS008702|
European Ancestry|
3,123 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1053 [0.0704, 0.14] sex, age, birth date, deprivation index, 16 PCs —
PPM011895 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS009374|
European Ancestry|
9,296 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1633 [0.1434, 0.183] sex, age, birth date, deprivation index, 16 PCs —
PPM011896 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS009148|
European Ancestry|
1,918 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1566 [0.1124, 0.2001] sex, age, birth date, deprivation index, 16 PCs —
PPM011898 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS008476|
Greater Middle Eastern Ancestry|
562 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.2432 [0.1623, 0.3208] sex, age, birth date, deprivation index, 16 PCs —
PPM011899 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS008254|
South Asian Ancestry|
2,976 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1496 [0.1142, 0.1847] sex, age, birth date, deprivation index, 16 PCs —
PPM011900 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS008032|
East Asian Ancestry|
855 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.048 [-0.0199, 0.1155] sex, age, birth date, deprivation index, 16 PCs —
PPM011901 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS007818|
African Ancestry|
1,112 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.1167 [0.0578, 0.1749] sex, age, birth date, deprivation index, 16 PCs —
PPM011902 PGS002130
(portability-ldpred2_F_log_testosterone)
 PSS008922|
African Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Testosterone (female only) — — Partial Correlation (partial-r): 0.0774 [0.0311, 0.1233] sex, age, birth date, deprivation index, 16 PCs —
PPM017050 PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (women only) HR: 1.374 C-index: 0.727 — sex, systolic blood pressure, cigarette packs per day —
PPM017056 PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (women only) OR: 1.089 C-index: 0.77 — — —
PPM017053 PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (women only) HR: 1.295 C-index: 0.722 — sex, systolic blood pressure, cigarette packs per day —
PPM017059 PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (women only) OR: 1.085 C-index: 0.77 — — —

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
PSS008254 — — 2,976 individuals — South Asian India (South Asia) UKB —
PSS007818 — — 1,112 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009148 — — 1,918 individuals — European Poland (NE Europe) UKB —
PSS000409 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 = 8.8 years
Sd = 1.0 years
[
  • 1,720 cases
  • , 58,588 controls
]
,
0.0 % Male samples
 Mean (Baseline) = 57.2 years
Sd = 7.9 years		 European — UKB —
PSS008032 — — 855 individuals — East Asian China (East Asia) UKB —
PSS010105 ICD codes I67.1 and I60 —
[
  • 828 cases
  • , 68,568 controls
]
 — European
(Norwegian)		 — HUNT2 —
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 —
PSS008702 — — 3,123 individuals — European Italy (South Europe) UKB —
PSS001169 Cases were individuals with hypertension. Of the 27,804 cases, 13,279 had early-onset hypertension (age of onset < 55 years) whilst 14,525 had late-onset hypertension (age of onset ≥ 55 years). —
[
  • 27,804 cases
  • , 95,775 controls
]
,
0.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS008922 — — 1,808 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008476 — — 562 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009374 — — 9,296 individuals — European UK (+ Ireland) UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — 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.