- Title
- Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE)
- Creator
- Orsi, L.; Rudant, J.; Michel, G.; Sirvent, N.; Chastagner, P.; Ducassou, S.; Rialland, X.; Hémon, D.; Milne, E.; Scott, R. J.; Baruchel, A.; Clavel, J.; Bonaventure, A.; Goujon-Bellec, S.; Corda, E.; Evans, T. J.; Petit, A.; Bertrand, Y.; Nelken, B.; Robert, A.
- Relation
- Leukemia Vol. 26, Issue 12, p. 2561-2564
- Publisher Link
- http://dx.doi.org/10.1038/leu.2012.148
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2012
- Description
- Every year, acute lymphoblastic leukaemia (ALL) affects about 400 children aged <15 years in France, accounting for approximately 80% of the acute leukaemia (AL) cases. The heterogeneity of cell types is reflected in the heterogeneity of clinical presentation, prognosis and, possibly, risk factors. In addition to Down’s syndrome, a few inheritable predisposing diseases and high-dose ionizing radiations increase the risk of ALL. Some environmental, infectious and genetic factors are consistently suspected. The first ALL genome-wide association studies (GWAS) reported clear associations between ALL and single-nucleotide polymorphisms (SNPs) flanking the Ikaros family zinc finger 1 gene (IKZF1) in 7p12.2 (rs6964823, rs4132601, rs6944602 or rs11978267), and the AT-rich interactive domain 5b gene (ARID5B) in 10q21.2 (rs7073837, rs10740055, rs7089424,3 or rs10821936, rs10994982. The latter association was more pronounced for hyperdiploid ALL in both GWAS. In the UK study, the SNP rs2239633 in the CCAAT/enhancer-binding protein epsilon gene (CEBPE) was also associated with ALL. Sherbone et al.5 analysed a subset of 34 SNPs selected in the UK GWAS3 and reported an association with rs3731217 in the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene. In addition, in a recent GWAS, four additional SNPs were associated with TEL-AML1-positive ALL (rs17505102 (TP63), rs1945213 (OR8U8), rs920590 (INTS10) and rs3942852 (PTPRJ)),6 requiring further investigation. We report the results of a GWAS conducted on the ALL cases from the ESCALE (Etude Sur les Cancers et les Leucémies de l’Enfant) nationwide registry-based study and generic controls. In addition, the SNPs associated with AL in the previous GWAS were considered in the ESCALE case–control study.
- Subject
- Ikaros family zinc finger 1 gene; GWAS; childhood diseases; ESCALE
- Identifier
- http://hdl.handle.net/1959.13/1309036
- Identifier
- uon:21752
- Identifier
- ISSN:0887-6924
- Language
- eng
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