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Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk
Authors:Dalemari Crowther‐Swanepoel  Mahmoud Mansouri  Anna Enjuanes  Ana Vega  Karin E Smedby  Clara Ruiz‐Ponte  Jesper Jurlander  Gunnar Juliusson  Emilio Montserrat  Daniel Catovsky  Elias Campo  Angel Carracedo  Richard Rosenquist  Richard S Houlston
Institution:1. Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK;2. Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden;3. Haematopathology Unit, Department of Anatomic Pathology, Hospital Clinic, University of Barcelona;4. Genomic Medicine Group, University of Santiago de Compostela and Galician Foundation of Genomic Medicine, CIBERER, Santiago de Compostela, Spain;5. Unit of Clinical Epidemiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden;6. Department of Haematology, Leukaemia Laboratory, Rigshospitalet, Copenhagen, Denmark;7. Lund Strategic Research Centre for Stem Cell Biology and Cell Therapy, Haematology and Transplantation, Lund University, Lund, Sweden;8. Department of Haematology, Institut d’Investigacions Biomediques August Pi i Sunyer, Hospital Clinic, University of Barcelona, Spain;9. Section of Haemato‐oncology, Institute of Cancer Research, Sutton, Surrey, UK
Abstract:A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and 19q13.32 (rs11083846) affects CLL risk. To verify and further explore the relationship between these variants and CLL risk we genotyped case‐control datasets from Spain and Sweden (824 cases, 850 controls). Combined data provided statistically significant support for an association between genotypes at rs13397985, rs872071, rs735665, rs7176508 and rs11083846 and CLL risk. CLL risk increased with increasing numbers of risk alleles (Ptrend = 1·40 × 10?15), consistent with a polygenic model of disease susceptibility. These data validate the relationship between common variation and risk of CLL.
Keywords:chronic lymphocytic leukaemia  risk  genotype  genome wide association
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