NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia |
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| Institution: | 1. Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Creighton University School of Medicine at St. Joseph''s Hospital and Medical Center, 500 W. Thomas Road, Suite 600, Phoenix, AZ 85013, USA;2. Section of Medicine, Drug Development Unit, The Royal Marsden Hospital NHS Foundation Trust, Downs Road SM2 5PT, Sutton, UK;3. Department of Medical Oncology, Valencian Institute of Oncology and GEICO, C/Prof Baguena, 19, 46009 Valencia, Spain;4. Division of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, 161 Fort Washington Avenue, New York, NY 10032, USA;5. PharmaMar, S.A., Avenida de los Reyes 1, P.I. La Mina Norte, Colmenar Viejo, 28770 (Madrid) Spain;6. Janssen Research & Development, LLC, 920 Rt 202 Raritan, NJ 08869, USA;1. Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain;2. University Children''s Hospital, Zurich and Children''s Research Center, Zurich, Switzerland;3. Group 739 of the Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER) del Instituto de Salud Carlos III, Spain;1. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB‐Arrixaca, Murcia, Spain;2. Grupo de investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain;3. Hospital Puerta del Mar, Cádiz, Spain;4. The John Paul II Hospital, Kraków, Poland;5. Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland;6. Department of Neurology, Laboratory for Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, the Netherlands;7. Serviço de Hematologia do Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;8. Grupo de Hemostasiam Trombosis, Arteriosclerosis y Biología Vascular, Centro de Investigación, Hospital Universitario y Politécnico La Fe, Valencia, Spain;9. Center for Metabolic Diseases, Universitair Ziekenhuis Gasthuisberg, Leuven, Belgium |
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| 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. |
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| Keywords: | Acute lymphoblastic leukaemia DNA double-strand break repair Single nucleotide polymorphisms Haplotype tagging SNP |
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