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Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression
AJ. Cabrera-Serrano, JM. Sánchez-Maldonado, R. Ter Horst, A. Macauda, P. García-Martín, Y. Benavente, S. Landi, A. Clay-Gilmour, Y. Niazi, B. Espinet, JJ. Rodríguez-Sevilla, EM. Pérez, R. Maffei, G. Blanco, M. Giaccherini, JR. Cerhan, R. Marasca,...
Jazyk angličtina Země Švýcarsko
Typ dokumentu metaanalýza, časopisecké články
Grantová podpora
PI17/02256
Instituto de Salud Carlos III
PI20/01845
Instituto de Salud Carlos III
PY20/01282
The Consejería de Salud y Familia de la Junta de Andalucía
NLK
Free Medical Journals
od 2000
Freely Accessible Science Journals
od 2000
PubMed Central
od 2007
Europe PubMed Central
od 2007
ProQuest Central
od 2000-03-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2007-01-01
Health & Medicine (ProQuest)
od 2000-03-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
PubMed
37175717
DOI
10.3390/ijms24098005
Knihovny.cz E-zdroje
- MeSH
- celogenomová asociační studie MeSH
- chronická lymfatická leukemie * genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- progrese nemoci MeSH
- rizikové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. Although genome-wide association studies (GWAS) have uncovered the germline genetic component underlying CLL susceptibility, the potential use of GWAS-identified risk variants to predict disease progression and patient survival remains unexplored. Here, we evaluated whether 41 GWAS-identified risk variants for CLL could influence overall survival (OS) and disease progression, defined as time to first treatment (TTFT) in a cohort of 1039 CLL cases ascertained through the CRuCIAL consortium. Although this is the largest study assessing the effect of GWAS-identified susceptibility variants for CLL on OS, we only found a weak association of ten single nucleotide polymorphisms (SNPs) with OS (p < 0.05) that did not remain significant after correction for multiple testing. In line with these results, polygenic risk scores (PRSs) built with these SNPs in the CRuCIAL cohort showed a modest association with OS and a low capacity to predict patient survival, with an area under the receiver operating characteristic curve (AUROC) of 0.57. Similarly, seven SNPs were associated with TTFT (p < 0.05); however, these did not reach the multiple testing significance threshold, and the meta-analysis with previous published data did not confirm any of the associations. As expected, PRSs built with these SNPs showed reduced accuracy in prediction of disease progression (AUROC = 0.62). These results suggest that susceptibility variants for CLL do not impact overall survival and disease progression in CLL patients.
Catalan Institute of Oncology Bellvitge Biomedical Research Institute 08908 Barcelona Spain
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences 1090 Vienna Austria
Centre for Individualised Infection Medicine 30625 Hannover Germany
CIBER Epidemiología y Salud Pública 28029 Madrid Spain
Department of Biology University of Pisa 56126 Pisa Italy
Department of Cancer Prevention and Therapy Medical University of Wrocław 50 556 Wrocław Poland
Department of Clinical Sciences Faculty of Medicine University of Barcelona 08907 Barcelona Spain
Department of Hematology University Hospital of Salamanca 37007 Salamanca Spain
Department of Leukemia The University of Texas MD Anderson Cancer Center Houston TX 77030 USA
Department of Nursing Universitat de Girona 17007 Girona Spain
Department of Quantitative Health Sciences Mayo Clinic Rochester MN 55905 USA
Division of Computational Genomics Mayo Clinic Rochester MN 85054 USA
Division of Hematology Mayo Clinic Rochester MN 55905 USA
Division of Pediatric Neurooncology German Cancer Research Center 69120 Heidelberg Germany
Faculty of Medicine University of Cantabria 39011 Santander Spain
Genomic Epidemiology Group German Cancer Research Center 69120 Heidelberg Germany
Hematology Department Morales Meseguer University Hospital 30008 Murcia Spain
Hopp Children's Cancer Center 69120 Heidelberg Germany
Hospital Campus de la Salud PTS 18016 Granada Spain
Immunology Department Virgen de las Nieves University Hospital 18014 Granada Spain
Instituto de Investigación Biosanitaria IBs Granada 18012 Granada Spain
Josep Carreras Leukemia Research Institute 08916 Girona Spain
Molecular Cytogenetics Laboratory Pathology Department Hospital del Mar 08003 Barcelona Spain
Citace poskytuje Crossref.org
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