{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(23)"],"submitter":["Cabrera-Serrano AJ"],"pubmed_abstract":["<h4>Abstract</h4>We investigated the influence of 55 583 autophagy-related single-nucleotide polymorphisms (SNPs) on chronic lymphocytic leukemia (CLL) risk across 4 independent populations comprising 5472 CLL cases and 726 465 controls. We also examined their impact on overall survival (OS), time to first treatment (TTFT), autophagy flux, and immune responses. A meta-analysis of the 4 populations identified, to our knowledge, for the first time, significant associations between CDKN2A (rs3731204) and BCL2 (rs4940571, rs12457371, and rs1026825) SNPs and CLL risk, with CDKN2A showing the strongest association (P = 1.57 × 10-12). We also validated previously reported associations for FAS, BCL2, and BAK1 SNPs with CLL risk (P = 4.73 × 10-21 to 3.39 × 10-9). The CDKN2Ars3731204 and FASrs192619"],"journal":["Blood advances"],"pagination":["6076-6089"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12686701"],"repository":["biostudies-literature"],"pubmed_title":["Identification of 4 autophagy-related genetic variants as risk factors for chronic lymphocytic leukemia."],"pmcid":["PMC12686701"],"pubmed_authors":["Rodriguez-Sevilla JJ","Reyes-Zurita FJ","Gamez I","Ramos-Campoy S","Puiggros A","Chen-Liang TH","McKay J","Carretero-Fernandez M","Berndt SI","Clay-Gilmour A","Jerez A","Kamaso J","Marcos-Gragera R","Luppi M","Ibanez M","Ter Horst R","Benavente Y","Perez EM","Jannus F","Norman AD","Cabrera-Serrano AJ","Sainz J","Maffei R","Sanchez-Maldonado JM","Lopez-Nevot MA","Alcoceba M","Casabonne D","Netea MG","Slager SL","Camp NJ","Dierssen-Sotos T","Espinet B","Ludovico P","Landi S","Collado R","Li Y","de San Jose S","Moreno V","Marasca R","Gonzalez-Olmedo C","Sampaio-Marques B","Cornejo-Calvo E","Garcia-Alvarez M","Garcia-Martin P","Campa D","Canzian F"],"additional_accession":[]},"is_claimable":false,"name":"Identification of 4 autophagy-related genetic variants as risk factors for chronic lymphocytic leukemia.","description":"<h4>Abstract</h4>We investigated the influence of 55 583 autophagy-related single-nucleotide polymorphisms (SNPs) on chronic lymphocytic leukemia (CLL) risk across 4 independent populations comprising 5472 CLL cases and 726 465 controls. We also examined their impact on overall survival (OS), time to first treatment (TTFT), autophagy flux, and immune responses. A meta-analysis of the 4 populations identified, to our knowledge, for the first time, significant associations between CDKN2A (rs3731204) and BCL2 (rs4940571, rs12457371, and rs1026825) SNPs and CLL risk, with CDKN2A showing the strongest association (P = 1.57 × 10-12). We also validated previously reported associations for FAS, BCL2, and BAK1 SNPs with CLL risk (P = 4.73 × 10-21 to 3.39 × 10-9). The CDKN2Ars3731204 and FASrs192619","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-06T00:20:48.412Z","creation":"2026-05-23T03:14:12.126Z"},"accession":"S-EPMC12686701","cross_references":{"pubmed":["40902075"],"doi":["10.1182/bloodadvances.2025017345"]}}