ID

45423

Description

Principal Investigator: Mary V. Relling, PharmD, St. Jude Children Research Hospital, Memphis, TN, USA MeSH: Precursor Cell Lymphoblastic Leukemia-Lymphoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000638 Using risk-directed therapy for childhood acute lymphoblastic leukemia (ALL), outcome has improved dramatically in the last 40 years. However, a substantial portion of patients experience relapse, many of whom have no known risk factors. Taking a genome-wide approach, we sought to evaluate the relationships between germline SNP genotypes and the risk of relapse in 2,535 children with newly diagnosed ALL after adjusting for genetic ancestry and treatment regimen. We examine prognostic value of selected SNPs in the context of known relapse risk factors (molecular subtypes, minimal residual disease, age and leukocyte count at diagnosis). Associations of relapse-related SNPs with pharmacokinetic and pharmacodynamics of antileukemic drugs offer plausible mechanism by which they are linked to treatment outcome. Finally, we aim to identify SNPs that are related to both genetic ancestry and relapse which are likely to contribute to racial disparities in ALL survival.

Link

dbGaP-study=phs000638

Keywords

  1. 11/25/22 11/25/22 - Chiara Middel
Copyright Holder

Mary V. Relling, PharmD, St. Jude Children Research Hospital, Memphis, TN, USA

Uploaded on

November 25, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000638 Genome-Wide Association Study of Relapse of Childhood Acute Lymphoblastic Leukemia

Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with childhood acute lymphoblastic leukemia and involved in the "Genome-Wide Association Study of Relapse of Childhood Acute Lymphoblastic Leukemia" project.

pht003569
Description

pht003569

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Description

SAMPLE_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
Sample ID used in the Source Repository
Description

SOURCE_SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample Use
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with childhood acute lymphoblastic leukemia and involved in the "Genome-Wide Association Study of Relapse of Childhood Acute Lymphoblastic Leukemia" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003569
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_SOURCE
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
SOURCE_SAMPLE_ID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
SNP genotypes obtained using standard or custom microarrays (SNP_Array)
C2347026 (UMLS CUI [1,1])
C0042153 (UMLS CUI [1,2])
C0752046 (UMLS CUI [1,3])
C1449575 (UMLS CUI [1,4])

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