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000304302 1001_ $$00000-0003-0346-7960$$aCabrera-Serrano, Antonio José$$b0
000304302 245__ $$aIdentification of four autophagy-related genetic variants as risk factors for chronic lymphocytic leukemia.
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000304302 520__ $$aWe investigated the influence of 55,583 autophagy-related single nucleotide polymorphisms (SNPs) on chronic lymphocytic leukemia (CLL) risk across four independent populations comprising 5,472 CLL cases and 726,465 controls. We also examined their impact on overall survival (OS), time to first treatment (TTFT), autophagy flux, and immune responses. A meta-analysis of the four populations identified, for the first time, significant associations between CDKN2A (rs3731204) and BCL2 (rs4940571, rs12457371, rs1026825) SNPs and CLL risk, with CDKN2A showing the strongest association (p=1.57×10⁻¹²). We also validated previously reported associations for FAS, BCL2, and BAK1 SNPs with CLL risk (p=4.73×10⁻²¹ to 3.39×10⁻⁹). The CDKN2Ars3731204 and FASrs1926194 SNPs associated with increased CDKN2A and ACTA2 mRNA expression levels in whole blood and/or lymphocytes (p=5.1×10-7, p=1.58×10-21, and p=7.8×10-41), although no significant effect on autophagy flux was observed. However, associations were found between CDKN2A, BCL2, and FAS SNPs and various T-cell subsets, cytokine production, and circulating concentrations of IFNg, TRAIL, CD40, CCL20, and IL2RB proteins (p≤0.005). No significant association was detected between autophagy variants and OS or TTFT, suggesting that these variants drive disease initiation rather than progression. In conclusion, this study identified four novel associations for CLL and provided insights into the biological pathways that influence CLL development.
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000304302 7001_ $$aSánchez-Maldonado, José Manuel$$b1
000304302 7001_ $$00000-0002-4741-7925$$aRodríguez-Sevilla, Juan José$$b2
000304302 7001_ $$00000-0003-3438-0753$$aReyes-Zurita, Fernando Jesús$$b3
000304302 7001_ $$00000-0002-8205-6192$$aCollado, Rosa$$b4
000304302 7001_ $$aPuiggros, Anna$$b5
000304302 7001_ $$00000-0003-2724-6759$$aCornejo-Calvo, Elena$$b6
000304302 7001_ $$aGarcía, Paloma$$b7
000304302 7001_ $$00000-0003-0576-5873$$aTer Horst, Rob$$b8
000304302 7001_ $$aBenavente, Yolanda$$b9
000304302 7001_ $$aJerez, Andrés$$b10
000304302 7001_ $$00000-0001-8364-6357$$aLandi, Stefano$$b11
000304302 7001_ $$00000-0002-4294-8145$$aEspinet, Blanca$$b12
000304302 7001_ $$00000-0002-3518-2006$$aMaffei, Rossana$$b13
000304302 7001_ $$00000-0002-3465-6062$$aLópez-Nevot, Miguel Ángel$$b14
000304302 7001_ $$00000-0001-9175-7102$$aRamos-Campoy, Silvia$$b15
000304302 7001_ $$aGonzález-Olmedo, Carmen$$b16
000304302 7001_ $$00000-0001-5969-8640$$aChen-Liang, Tzu-Hua$$b17
000304302 7001_ $$aMoreno, Victor$$b18
000304302 7001_ $$00000-0001-7419-8492$$aJannus, Fatin$$b19
000304302 7001_ $$00000-0001-9824-3657$$aMarcos-Gragera, Rafael$$b20
000304302 7001_ $$00009-0003-8736-7146$$aCarretero-Fernández, María$$b21
000304302 7001_ $$00000-0001-6580-0971$$aSampaio-Marques, Belém$$b22
000304302 7001_ $$aGámez, Irene$$b23
000304302 7001_ $$aGarcia-Alvarez, María$$b24
000304302 7001_ $$00000-0002-4788-1998$$aCamp, Nicola J$$b25
000304302 7001_ $$00000-0002-6127-0077$$aDierssen-Sotos, Trinidad$$b26
000304302 7001_ $$00009-0003-5913-9576$$aKamaso, Joanna$$b27
000304302 7001_ $$aPérez, Eva María$$b28
000304302 7001_ $$aNorman, Aaron D$$b29
000304302 7001_ $$aLuppi, Mario$$b30
000304302 7001_ $$00000-0003-4022-7341$$aLi, Yang$$b31
000304302 7001_ $$aAlcoceba, Miguel$$b32
000304302 7001_ $$aCampa, Daniele$$b33
000304302 7001_ $$ade Sanjose, Silvia$$b34
000304302 7001_ $$00000-0002-6431-6878$$aMarasca, Roberto$$b35
000304302 7001_ $$00000-0003-4130-7167$$aLudovico, Paula$$b36
000304302 7001_ $$aClay-Gilmour, Alyssa Ione$$b37
000304302 7001_ $$0P:(DE-He78)5323704270b6393dcea70186ffd86bca$$aCanzian, Federico$$b38$$udkfz
000304302 7001_ $$aIbañez, Marian$$b39
000304302 7001_ $$aNetea, Mihai G$$b40
000304302 7001_ $$aMcKay, James$$b41
000304302 7001_ $$00000-0002-7874-3707$$aCasabonne, Delphine$$b42
000304302 7001_ $$00000-0001-5230-0652$$aBerndt, Sonja I$$b43
000304302 7001_ $$00000-0002-5173-4712$$aSlager, Susan L$$b44
000304302 7001_ $$00000-0002-9355-2423$$aSainz, Juan$$b45
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