title: NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia.
abstract: Nibrin and DNA repair protein XRCC3 are involved in DNA double-strand break repair. We genotyped seven tagging SNPs in these genes (rs1805794, rs709816; rs1063054; rs7141928, rs1799794, rs861530, rs861539) with the aim to analyse their association with acute lymphoblastic leukaemia (ALL), a disease, that is characterised by elevated genetic instability. Study consisted of 460 paediatric ALL cases and 552 healthy controls. For selection of DNA sequence variants we employed SNP-tagging approach, incorporating the HAPMAP CEU reference panel data. We did not find association of analysed and tagged SNPs and derived haplotypes with the ALL risk thus did not confirm the hypothesis that analysed DNA recombination repair variants account for increased susceptibility to ALL.
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany. Electronic address: bozena.smolkova@savba.sk.
authors.forename: Bozena
authors.initials: B
authors.lastname: Smolkova
authors.affiliation: Health Effects Laboratory MILK, NILU-Norwegian Institute for Air Research, Kjeller, Norway. Electronic address: mdu@nilu.no.
authors.forename: Maria
authors.initials: M
authors.lastname: Dusinska
authors.affiliation: Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany. Electronic address: K.Hemminki@dkfz-heidelberg.de.
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; C110901:X-ray repair cross complementing protein 3
keywords: Acute lymphoblastic leukaemia; DNA double-strand break repair; Haplotype tagging SNP; NBN; Single nucleotide polymorphisms; XRCC3