Literature DB >> 22700719

Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

Susan L Slager1, Christine F Skibola, Maria Chiara Di Bernardo, Lucia Conde, Peter Broderick, Shannon K McDonnell, Lynn R Goldin, Naomi Croft, Amy Holroyd, Shelley Harris, Jacques Riby, Daniel J Serie, Neil E Kay, Timothy G Call, Paige M Bracci, Eran Halperin, Mark C Lanasa, Julie M Cunningham, Jose F Leis, Vicki A Morrison, Logan G Spector, Celine M Vachon, Tait D Shanafelt, Sara S Strom, Nicola J Camp, J Brice Weinberg, Estella Matutes, Neil E Caporaso, Rachel Wade, Martin J S Dyer, Claire Dearden, James R Cerhan, Daniel Catovsky, Richard S Houlston.   

Abstract

We performed a meta-analysis of 3 genome-wide association studies to identify additional common variants influencing chronic lymphocytic leukemia (CLL) risk. The discovery phase was composed of genome-wide association study data from 1121 cases and 3745 controls. Replication analysis was performed in 861 cases and 2033 controls. We identified a novel CLL risk locus at 6p21.33 (rs210142; intronic to the BAK1 gene, BCL2 antagonist killer 1; P = 9.47 × 10(-16)). A strong relationship between risk genotype and reduced BAK1 expression was shown in lymphoblastoid cell lines. This finding provides additional support for polygenic inheritance to CLL and provides further insight into the biologic basis of disease development.

Entities:  

Mesh:

Substances:

Year:  2012        PMID: 22700719      PMCID: PMC3412347          DOI: 10.1182/blood-2012-03-413591

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  19 in total

1.  Quantifying heterogeneity in a meta-analysis.

Authors:  Julian P T Higgins; Simon G Thompson
Journal:  Stat Med       Date:  2002-06-15       Impact factor: 2.373

2.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

3.  Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk.

Authors:  Dalemari Crowther-Swanepoel; Maria Chiara Di Bernardo; Krzysztof Jamroziak; Lidia Karabon; Irena Frydecka; Silvia Deaglio; Giovanni D'Arena; Davide Rossi; Gianluca Gaidano; Bianca Olver; Amy Lloyd; Peter Broderick; Luca Laurenti; Zofia Szemraj-Rogucka; Tadeusz Robak; Daniel Catovsky; Richard S Houlston
Journal:  Br J Haematol       Date:  2011-05-09       Impact factor: 6.998

4.  Geographical variation in the incidence of the leukemias and lymphomas.

Authors:  N S Weiss
Journal:  Natl Cancer Inst Monogr       Date:  1979-11

5.  Essential role of BAX,BAK in B cell homeostasis and prevention of autoimmune disease.

Authors:  Osamu Takeuchi; Jill Fisher; Heikyung Suh; Hisashi Harada; Barbara A Malynn; Stanley J Korsmeyer
Journal:  Proc Natl Acad Sci U S A       Date:  2005-07-29       Impact factor: 11.205

6.  Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia.

Authors:  T J Hamblin; Z Davis; A Gardiner; D G Oscier; F K Stevenson
Journal:  Blood       Date:  1999-09-15       Impact factor: 22.113

7.  Induction of apoptosis by the Bcl-2 homologue Bak.

Authors:  T Chittenden; E A Harrington; R O'Connor; C Flemington; R J Lutz; G I Evan; B C Guild
Journal:  Nature       Date:  1995-04-20       Impact factor: 49.962

8.  Hepatic IGFBP1 is a prosurvival factor that binds to BAK, protects the liver from apoptosis, and antagonizes the proapoptotic actions of p53 at mitochondria.

Authors:  J I-Ju Leu; Donna L George
Journal:  Genes Dev       Date:  2007-12-01       Impact factor: 11.361

9.  Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database.

Authors:  Lynn R Goldin; Ruth M Pfeiffer; Xinjun Li; Kari Hemminki
Journal:  Blood       Date:  2004-05-25       Impact factor: 22.113

10.  National study of colorectal cancer genetics.

Authors:  S Penegar; W Wood; S Lubbe; I Chandler; P Broderick; E Papaemmanuil; G Sellick; R Gray; J Peto; R Houlston
Journal:  Br J Cancer       Date:  2007-09-25       Impact factor: 7.640

View more
  41 in total

Review 1.  Familial predisposition and genetic risk factors for lymphoma.

Authors:  James R Cerhan; Susan L Slager
Journal:  Blood       Date:  2015-09-24       Impact factor: 22.113

2.  Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study.

Authors:  Nikolas H Kazmers; Zhe Yu; Tyler Barker; Tyler Abraham; Robin Romero; Michael J Jurynec
Journal:  J Hand Surg Am       Date:  2019-11-22       Impact factor: 2.230

3.  A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

Authors:  Helen E Speedy; Maria Chiara Di Bernardo; Georgina P Sava; Martin J S Dyer; Amy Holroyd; Yufei Wang; Nicola J Sunter; Larry Mansouri; Gunnar Juliusson; Karin E Smedby; Göran Roos; Sandrine Jayne; Aneela Majid; Claire Dearden; Andrew G Hall; Tryfonia Mainou-Fowler; Graham H Jackson; Geoffrey Summerfield; Robert J Harris; Andrew R Pettitt; David J Allsup; James R Bailey; Guy Pratt; Chris Pepper; Chris Fegan; Richard Rosenquist; Daniel Catovsky; James M Allan; Richard S Houlston
Journal:  Nat Genet       Date:  2013-12-01       Impact factor: 38.330

Review 4.  The molecular pathogenesis of chronic lymphocytic leukaemia.

Authors:  Giulia Fabbri; Riccardo Dalla-Favera
Journal:  Nat Rev Cancer       Date:  2016-03       Impact factor: 60.716

5.  Fast Algorithms for Conducting Large-Scale GWAS of Age-at-Onset Traits Using Cox Mixed-Effects Models.

Authors:  Liang He; Alexander M Kulminski
Journal:  Genetics       Date:  2020-03-04       Impact factor: 4.562

6.  Common variants within 6p21.31 locus are associated with chronic lymphocytic leukaemia and, potentially, other non-Hodgkin lymphoma subtypes.

Authors:  Susan L Slager; Nicola J Camp; Lucia Conde; Tait D Shanafelt; Sara J Achenbach; Kari G Rabe; Neil E Kay; Anne J Novak; Timothy G Call; Paige M Bracci; Fenna M C Sille; Sylvia Sanchez; Nicholas K Akers; Julie M Cunningham; Daniel J Serie; Shannon K McDonnell; Jose F Leis; Alice H Wang; J Brice Weinberg; Martha Glenn; Brian Link; Celine M Vachon; Mark C Lanasa; Christine F Skibola; James R Cerhan
Journal:  Br J Haematol       Date:  2012-10-01       Impact factor: 6.998

7.  Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.

Authors:  Eleanor C Semmes; Jayaram Vijayakrishnan; Chenan Zhang; Jillian H Hurst; Richard S Houlston; Kyle M Walsh
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2020-05-28       Impact factor: 4.254

8.  Medical history, lifestyle, family history, and occupational risk factors for chronic lymphocytic leukemia/small lymphocytic lymphoma: the InterLymph Non-Hodgkin Lymphoma Subtypes Project.

Authors:  Susan L Slager; Yolanda Benavente; Aaron Blair; Roel Vermeulen; James R Cerhan; Adele Seniori Costantini; Alain Monnereau; Alexandra Nieters; Jacqueline Clavel; Timothy G Call; Marc Maynadié; Qing Lan; Christina A Clarke; Tracy Lightfoot; Aaron D Norman; Joshua N Sampson; Delphine Casabonne; Pierluigi Cocco; Silvia de Sanjosé
Journal:  J Natl Cancer Inst Monogr       Date:  2014-08

9.  MDM2 promotor polymorphism and disease characteristics in chronic lymphocytic leukemia: results of an individual patient data-based meta-analysis.

Authors:  Axel Benner; Larry Mansouri; Davide Rossi; Aneela Majid; Kerstin Willander; Anton Parker; Gareth Bond; Sarka Pavlova; Holger Nückel; Olaf Merkel; Paolo Ghia; Emili Montserrat; Mohd Arifin Kaderi; Richard Rosenquist; Gianluca Gaidano; Martin J S Dyer; Peter Söderkvist; Mats Linderholm; David Oscier; Zuzana Tvaruzkova; Sarka Pospisilova; Ulrich Dührsen; Richard Greil; Hartmut Döhner; Stephan Stilgenbauer; Thorsten Zenz
Journal:  Haematologica       Date:  2014-08       Impact factor: 9.941

Review 10.  Risk factors for Richter syndrome in chronic lymphocytic leukemia.

Authors:  Sameer A Parikh; Tait D Shanafelt
Journal:  Curr Hematol Malig Rep       Date:  2014-09       Impact factor: 3.952

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.