PGS Publication: PGP000613

Publication Information (EuropePMC)
Title Generalization of a genetic risk score for time to first albuminuria in children with sickle cell anaemia: SCCRIP cohort study results.
PubMed ID 34137022(Europe PMC)
doi 10.1111/bjh.17647
Publication Date June 16, 2021
Journal Br J Haematol
Author(s) Rashkin SR, Rampersaud E, Kang G, Ataga KI, Hankins JS, Wang W, Estepp JH, Weiss MJ, Lebensburger J,...  Zahr RS.Show more
Released in PGS Catalog: April 18, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

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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)
PGS000822
(GRS_UACR)
PGP000206 |
Teumer A et al. Nat Commun (2019)
Urinary albumin to creatinine ratiourinary albumin to creatinine ratio59
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000822/ScoringFiles/PGS000822.txt.gz
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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.

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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
PPM021122PGS000822
(GRS_UACR)
PSS011530|
African Ancestry|
288 individuals
PGP000613 |
Rashkin SR et al. Br J Haematol (2021)
|Ext.		Reported Trait: Time to albuminuria in children with sickle cell anaemiaHR: 1.49
β: 0.4 (0.17)		——Sex, hydroxycarbamide duration, chronic transfusion duration, first 5 PCsOnly 45 of 59 SNPs were used for score calculation based on MAF > 0.05
PPM021123PGS000822
(GRS_UACR)
PSS011530|
African Ancestry|
288 individuals
PGP000613 |
Rashkin SR et al. Br J Haematol (2021)
|Ext.		Reported Trait: Time to albuminuria in children with sickle cell anaemiaHR: 1.46
β: 0.38 (0.16)		——Sex, hydroxycarbamide duration, chronic transfusion duration, first 5 PCs, known sickle cell anaemia...  chronic kidney disease risk factors (α-thalessemia allele -α deletion, APOL1, BCL11A SNP rs1427407, HMOX1 SNP rs743811)Show moreOnly 45 of 59 SNPs were used for score calculation based on MAF > 0.05
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Evaluated Samples

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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
PSS011530Albuminuria was defined by a urine albumin to creatinine ratio (UCAR) of > 30mg/g. Time to album... inuria was defined as the age at first instance of UACR > 30mg/g during follow-up.Show moreMean = 3.54 years
Sd = 3.02 years
[
  • 60 cases
  • , 228 controls
]
,
52.08 % Male samples
Mean = 8.1 years
Sd = 3.7 years		African American or Afro-Caribbean—SCCRIP—
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