Annotation Detail
Information
- Associated Genes
- ITPA
- Associated Variants
-
ITPA p.Pro32Thr (p.P32T)
(
ENST00000380113.8,
ENST00000399838.3,
ENST00000455664.6 )
ITPA p.Pro32Ala (p.P32A) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ser (p.P32S) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Thr (p.P32T) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ala (p.P32A) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ser (p.P32S) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 ) - Associated Disease
- Leukemia, Lymphocytic, Acute, L1
- Source Database
- DisGeNET
- Description
- The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model.
- Pubmed
- 25099492
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs