ArticlePloS one2012
Post-GWAS functional characterization of susceptibility variants for chronic lymphocytic leukemia.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
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- Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study.Blood cancer journal · 2022Article
- Identify a DNA Damage Repair Gene Signature for Predicting Prognosis and Immunotherapy Response in Cervical Squamous Cell Carcinoma.Journal of oncology · 2022Article
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- MARS: leveraging allelic heterogeneity to increase power of association testing.Genome biology · 2021Article
- The Speckled Protein (SP) Family: Immunity's Chromatin Readers.Trends in immunology · 2020Review
- The Human SLC1A5 (ASCT2) Amino Acid Transporter: From Function to Structure and Role in Cell Biology.Frontiers in cell and developmental biology · 2018Review
- Biological function integrated prediction of severe radiographic progression in rheumatoid arthritis: a nested case control study.Arthritis research & therapy · 2017Article
- Monoclonal B-cell lymphocytosis in a hospital-based UK population and a rural Ugandan population: a cross-sectional study.The Lancet. Haematology · 2017Article
- Maintenance of macrophage transcriptional programs and intestinal homeostasis by epigenetic reader SP140.Science immunology · 2017Article
- Biomarkers of genome instability and cancer epigenetics.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
- Multifaceted Histone H3 Methylation and Phosphorylation Readout by the Plant Homeodomain Finger of Human Nuclear Antigen Sp100C.The Journal of biological chemistry · 2016Article
- Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.Human mutation · 2016Article
- Reduced B lymphoid kinase (Blk) expression enhances proinflammatory cytokine production and induces nephrosis in C57BL/6-lpr/lpr mice.PloS one · 2014Article
- Genetic susceptibility to chronic lymphocytic leukemia.Seminars in hematology · 2013Review
- Inherited susceptibility to chronic lymphocytic leukemia: evidence and prospects for the future.Therapeutic advances in hematology · 2013Article
- GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data.Genome biology · 2013Article
- Genomic approaches to chronic lymphocytic leukemia.Hematology/oncology clinics of North America · 2013Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Recent genome-wide association studies (GWAS) have identified several gene variants associated with sporadic chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Many of these CLL/SLL susceptibility loci are located in non-coding or intergenic regions, posing a significant challenge to determine their potential functional relevance. Here, we review the literature of all CLL/SLL GWAS and validation studies, and apply eQTL analysis to identify putatively functional SNPs that affect gene expression that may be causal in the pathogenesis of CLL/SLL. We tested 12 independent risk loci for their potential to alter gene expression through cis-acting mechanisms, using publicly available gene expression profiles with matching genotype information. Sixteen SNPs were identified that are linked to differential expression of SP140, a putative tumor suppressor gene previously associated with CLL/SLL. Three additional SNPs were associated with differential expression of DACT3 and GNG8, which are involved in the WNT/β-catenin- and G protein-coupled receptor signaling pathways, respectively, that have been previously implicated in CLL/SLL pathogenesis. Using in silico functional prediction tools, we found that 14 of the 19 significant eQTL SNPs lie in multiple putative regulatory elements, several of which have prior implications in CLL/SLL or other hematological malignancies. Although experimental validation is needed, our study shows that the use of existing GWAS data in combination with eQTL analysis and in silico methods represents a useful starting point to screen for putatively causal SNPs that may be involved in the etiology of CLL/SLL.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.