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

Publication ,  Journal Article
Slager, SL; Skibola, CF; Di Bernardo, MC; Conde, L; Broderick, P; McDonnell, SK; Goldin, LR; Croft, N; Holroyd, A; Harris, S; Riby, J; Kay, NE ...
Published in: Blood
July 26, 2012

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.

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Published In

Blood

DOI

EISSN

1528-0020

Publication Date

July 26, 2012

Volume

120

Issue

4

Start / End Page

843 / 846

Location

United States

Related Subject Headings

  • Young Adult
  • Survival Rate
  • Reverse Transcriptase Polymerase Chain Reaction
  • Real-Time Polymerase Chain Reaction
  • RNA, Messenger
  • Pyrimidines
  • Prospective Studies
  • Prognosis
  • Piperazines
  • Philadelphia Chromosome
 

Citation

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Slager, S. L., Skibola, C. F., Di Bernardo, M. C., Conde, L., Broderick, P., McDonnell, S. K., … Houlston, R. S. (2012). Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. Blood, 120(4), 843–846. https://doi.org/10.1182/blood-2012-03-413591
Slager, Susan L., Christine F. Skibola, Maria Chiara Di Bernardo, Lucia Conde, Peter Broderick, Shannon K. McDonnell, Lynn R. Goldin, et al. “Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.Blood 120, no. 4 (July 26, 2012): 843–46. https://doi.org/10.1182/blood-2012-03-413591.
Slager SL, Skibola CF, Di Bernardo MC, Conde L, Broderick P, McDonnell SK, et al. Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. Blood. 2012 Jul 26;120(4):843–6.
Slager, Susan L., et al. “Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.Blood, vol. 120, no. 4, July 2012, pp. 843–46. Pubmed, doi:10.1182/blood-2012-03-413591.
Slager SL, Skibola CF, Di Bernardo MC, Conde L, Broderick P, McDonnell SK, Goldin LR, Croft N, Holroyd A, Harris S, Riby J, Serie DJ, Kay NE, Call TG, Bracci PM, Halperin E, Lanasa MC, Cunningham JM, Leis JF, Morrison VA, Spector LG, Vachon CM, Shanafelt TD, Strom SS, Camp NJ, Weinberg JB, Matutes E, Caporaso NE, Wade R, Dyer MJS, Dearden C, Cerhan JR, Catovsky D, Houlston RS. Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. Blood. 2012 Jul 26;120(4):843–846.

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

July 26, 2012

Volume

120

Issue

4

Start / End Page

843 / 846

Location

United States

Related Subject Headings

  • Young Adult
  • Survival Rate
  • Reverse Transcriptase Polymerase Chain Reaction
  • Real-Time Polymerase Chain Reaction
  • RNA, Messenger
  • Pyrimidines
  • Prospective Studies
  • Prognosis
  • Piperazines
  • Philadelphia Chromosome