ID

45423

Beschrijving

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

Trefwoorden

  1. 25-11-22 25-11-22 - Chiara Middel
Houder van rechten

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

Geüploaded op

25 november 2022

DOI

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Licentie

Creative Commons BY 4.0

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

Sample ID, body site, analyte type, tumor status of sample, and histological type of participants with childhood acute lymphoblastic leukemia and involved in the "Genome-Wide Association Study of Relapse of Childhood Acute Lymphoblastic Leukemia" project.

pht003571
Beschrijving

pht003571

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Beschrijving

SAMPLE_ID

Datatype

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Beschrijving

BODY_SITE

Datatype

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Beschrijving

ANALYTE_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Beschrijving

IS_TUMOR

Datatype

text

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample
Beschrijving

HISTOLOGICAL_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560

Similar models

Sample ID, body site, analyte type, tumor status of sample, and histological type of 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)
Datatype
Alias
Item Group
pht003571
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
Is not a tumor (N)
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])

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