DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Chronic lymphocytic leukemia. The EFO term chronic lymphocytic leukemia was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: chronic lymphocytic leukemia

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

SL Slager, CF Skibola, MC Di Bernardo, L Conde, P Broderick, SK McDonnell, LR Goldin, N Croft, A Holroyd, S Harris, J Riby, DJ Serie, NE Kay, TG Call, PM Bracci, E Halperin, MC Lanasa, JM Cunningham, JF Leis, VA Morrison, LG Spector, CM Vachon, TD Shanafelt, SS Strom, NJ Camp, JB Weinberg, E Matutes, NE Caporaso, R Wade, MJ Dyer, C Dearden, JR Cerhan, D Catovsky, RS Houlston

TITLE:

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

JOURNAL:

Blood Jul 2012, Vol 120, pp. 843-6

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. PUBMED: 22700719
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