title: Association of variants in BAFF (rs9514828 and rs1041569) and BAFF-R (rs61756766) genes with the risk of chronic lymphocytic leukemia.
abstract: The B-cell activator factor (BAFF)/BAFF receptor (BAFF-R) axis seems to play an important role in the development and progression of chronic lymphocytic leukemia (CLL). Here, we investigated the association of eight single nucleotide polymorphisms (SNPs) in the BAFF (TNFSF13B) and BAFF-R (TNFRSF13C) genes with risk of sporadic CLL in a group of 439 CLL patients and 477 controls. We also examined the correlation between selected SNPs and CLL clinical parameters as well as BAFF plasma levels and intracellular BAFF expression. Our results point to a possible association between the rs9514828 (CT vs. CC + TT; OR = 0.74; CI 95 % = 0.57; 0.97; p = 0.022) and rs1041569 (AT vs. AA + TT; OR = 0.72; CI 95 % = 0.54; 0.95; p = 0.021) of BAFF gene and rs61756766 (CC vs. CT; OR = 2.03; CI 95 % = 1.03; 3.99; p = 0.03) of BAFF-R gene and CLL risk. Additionally, we observed that homozygotes rs1041569 AA and TT had a slightly higher risk (HR = 1.12) for the need of treatment in comparison to AT heterozygotes. In conclusion, our results indicate that SNPs in BAFF and BAFF-R genes may be considered as potential CLL risk factors.
authors.affiliation: Laboratory of Immunogenetics and Tissue Immunology, Department of Clinical Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Weigla 12, 53-114, Wroclaw, Poland. jasek@iitd.pan.wroc.pl.
authors.forename: Monika
authors.initials: M
authors.lastname: Jasek
authors.affiliation: Chair and Department of Clinical Immunology, Medical University of Lublin, Chodzki 4a, 20-093, Lublin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Bojarska-Junak
authors.affiliation: Laboratory of Immunogenetics and Tissue Immunology, Department of Clinical Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Weigla 12, 53-114, Wroclaw, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Wagner
authors.affiliation: Department of Genomics, Faculty of Biotechnology, University of Wrocław, ul. Fryderyka Joliot-Curie 14a, 50-383, Wroclaw, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Sobczyński
authors.affiliation: Department of Hematology, Neoplastic Diseases, and Bone Marrow Transplantation, Wroclaw Medical University, ul. Pasteura 1, 50-367, Wroclaw, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Wołowiec
authors.affiliation: Chair and Department of Clinical Immunology, Medical University of Lublin, Chodzki 4a, 20-093, Lublin, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Roliński
authors.affiliation: Department of Experimental Therapy, Institute of Immunology and Experimental Therapy, Polish Academy of Science, ul. Weigla 12, 53-114, Wroclaw, Poland.
authors.forename: Lidia
authors.initials: L
authors.lastname: Karabon
authors.affiliation: Laboratory of Immunogenetics and Tissue Immunology, Department of Clinical Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Weigla 12, 53-114, Wroclaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Kuśnierczyk
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D053264:B-Cell Activating Factor / Q000235:genetics*; D053265:B-Cell Activation Factor Receptor / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D015153:Blotting, Western; D016022:Case-Control Studies; D005500:Follow-Up Studies; D006801:Humans; D007124:Immunoenzyme Techniques; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D015996:Survival Rate
chemical_list: D053264:B-Cell Activating Factor; D053265:B-Cell Activation Factor Receptor; D014408:Biomarkers, Tumor; D012333:RNA, Messenger; C505719:TNFSF13B protein, human
keywords: BAFF; BAFF-R; CLL; Polymorphism