PGS Publication: PGP000096

Publication Information (EuropePMC)
Title The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.
PubMed ID 32692746(Europe PMC)
doi 10.1371/journal.pmed.1003196
Publication Date July 21, 2020
Journal PLoS Med
Author(s) Chami N, Preuss M, Walker RW, Moscati A, Loos RJF.
Released in PGS: Sept. 4, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000320 PRS_BMI PGP000096
Chami N et al. PLoS Med (2020)
Body mass index body mass index 263,640 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000320/ScoringFiles/PGS000320.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000858 PGS000320 (PRS_BMI) PSS000413 PGP000096
Chami N et al. (2020)
Reported Trait: Body mass index (BMI; kg/m^2) β: 1.29 : 0.0676 age, sex, 10 genetic PCs
PPM000859 PGS000320 (PRS_BMI) PSS000412 PGP000096
Chami N et al. (2020)
Reported Trait: Body mass index (BMI; kg/m^2) in MC4R non-carriers Higher PRS in obese vs. normal weight MC4R non-carriers (p-value): 2e-16 age, sex, 10 genetic PCs
PPM000860 PGS000320 (PRS_BMI) PSS000411 PGP000096
Chami N et al. (2020)
Reported Trait: Body mass index (BMI; kg/m^2) in MC4R carriers Higher PRS in obese vs. normal weight MC4R mutation carriers (p-value): 1.7e-06 age, sex, 10 genetic PCs

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000412 59 MC4R mutations that had previously been reported to play a role in obesity were included in our analyses (Table S2) All phenotypic data used for analyses were collected at the baseline visit. We provide a brief description here; more details can be found in S1 Text and elsewhere [18–21]. BMI, calculated as weight (kg) divided by height squared (m2), was used to categorize individuals with underweight (BMI < 18.5 kg/m2), normal weight (18.5 kg/m2 ≤ BMI < 25 kg/m2), overweight (25 kg/m2 ≤ BMI < 30 kg/m2), or obesity (BMI ≥ 30 kg/m2).
[
  • 109,216 cases
  • , 147,554 controls
]
European UKB
PSS000413 All phenotypic data used for analyses were collected at the baseline visit. We provide a brief description here; more details can be found in S1 Text and elsewhere [18–21]. BMI, calculated as weight (kg) divided by height squared (m2), was used to categorize individuals with underweight (BMI < 18.5 kg/m2), normal weight (18.5 kg/m2 ≤ BMI < 25 kg/m2), overweight (25 kg/m2 ≤ BMI < 30 kg/m2), or obesity (BMI ≥ 30 kg/m2). 206,612 individuals,
100.0 % Male samples
Mean = 57.0 years
Sd = 8.1 years
European UKB
PSS000413 All phenotypic data used for analyses were collected at the baseline visit. We provide a brief description here; more details can be found in S1 Text and elsewhere [18–21]. BMI, calculated as weight (kg) divided by height squared (m2), was used to categorize individuals with underweight (BMI < 18.5 kg/m2), normal weight (18.5 kg/m2 ≤ BMI < 25 kg/m2), overweight (25 kg/m2 ≤ BMI < 30 kg/m2), or obesity (BMI ≥ 30 kg/m2). 244,896 individuals,
0.0 % Male samples
Mean = 57.0 years
Sd = 7.9 years
European UKB
PSS000411 59 MC4R mutations that had previously been reported to play a role in obesity were included in our analyses (Table S2) All phenotypic data used for analyses were collected at the baseline visit. We provide a brief description here; more details can be found in S1 Text and elsewhere [18–21]. BMI, calculated as weight (kg) divided by height squared (m2), was used to categorize individuals with underweight (BMI < 18.5 kg/m2), normal weight (18.5 kg/m2 ≤ BMI < 25 kg/m2), overweight (25 kg/m2 ≤ BMI < 30 kg/m2), or obesity (BMI ≥ 30 kg/m2).
[
  • 76 cases
  • , 28 controls
]
European UKB