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.
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
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Not Reported

External PGS Evaluated By This Publication

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 ratio urinary albumin to creatinine ratio 59
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000822/ScoringFiles/PGS000822.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
PPM021122 PGS000822
(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 anaemia HR: 1.49
β: 0.4 (0.17)		 — — Sex, hydroxycarbamide duration, chronic transfusion duration, first 5 PCs Only 45 of 59 SNPs were used for score calculation based on MAF > 0.05
PPM021123 PGS000822
(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 anaemia HR: 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) Only 45 of 59 SNPs were used for score calculation based on MAF > 0.05

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
PSS011530 Albuminuria was defined by a urine albumin to creatinine ratio (UCAR) of > 30mg/g. Time to albuminuria was defined as the age at first instance of UACR > 30mg/g during follow-up. Mean = 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 —