Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia-Reference-Cited by-同舟云学术

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

Published:2012-07-26 Issue:4 Volume:120 Page:843-846
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Slager Susan L.¹,Skibola Christine F.²,Di Bernardo Maria Chiara³,Conde Lucia²,Broderick Peter³,McDonnell Shannon K.¹,Goldin Lynn R.⁴,Croft Naomi³,Holroyd Amy³,Harris Shelley³,Riby Jacques²,Serie Daniel J.¹,Kay Neil E.¹,Call Timothy G.¹,Bracci Paige M.⁵,Halperin Eran⁶,Lanasa Mark C.⁷,Cunningham Julie M.¹,Leis Jose F.¹,Morrison Vicki A.⁸⁹,Spector Logan G.⁹,Vachon Celine M.¹,Shanafelt Tait D.¹,Strom Sara S.¹⁰,Camp Nicola J.¹¹,Weinberg J. Brice⁷¹²,Matutes Estella¹³,Caporaso Neil E.⁴,Wade Rachel¹⁴,Dyer Martin J. S.¹⁵,Dearden Claire¹³,Cerhan James R.¹,Catovsky Daniel¹³,Houlston Richard S.³

Affiliation:

1. Mayo Clinic College of Medicine, Rochester, MN;

2. Division of Environmental Health Sciences, School of Public Health, University of California, Berkeley, Berkeley, CA;

3. Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom;

4. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;

5. Department of Epidemiology and Biostatistics, School of Medicine, University of California, San Francisco, San Francisco, CA;

6. Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, Israel;

7. Duke University Medical Center, Durham, NC;

8. Minneapolis Veterans Administration Medical Center, Minneapolis, MN;

9. University of Minnesota, Minneapolis, MN;

10. The MD Anderson Cancer Center, Houston, TX;

11. University of Utah School of Medicine, Salt Lake City, UT;

12. Durham Veterans Administration Medical Center, Durham, NC;

13. Section of Haemato-Oncology, Division of Pathology, Institute of Cancer Research, Sutton, United Kingdom;

14. Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom; and

15. Department of Cancer Studies and Molecular Medicine, Leicester University, Leicester, United Kingdom

Abstract

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/120/4/843/1498666/zh803012000843.pdf

Reference20 articles.

1. Chronic lymphocytic leukemia: revelations from the B-cell receptor.;Stevenson;Blood,2004

2. Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database.;Goldin;Blood,2004

3. Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.;Slager;Blood,2011

4. A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.;Di Bernardo;Nat Genet,2008

5. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.;Crowther-Swanepoel;Nat Genet,2010

Cited by 72 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The molecular map of CLL and Richter's syndrome;Seminars in Hematology;2024-04

2. Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases;Ophthalmology Science;2023-09

3. The inherited genetic contribution and polygenic risk score for risk of CLL and MBL: a narrative review;Leukemia & Lymphoma;2022-12-28

4. Old and New Facts and Speculations on the Role of the B Cell Receptor in the Origin of Chronic Lymphocytic Leukemia;International Journal of Molecular Sciences;2022-11-17

5. Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes;Leukemia;2022-10-22