Publikation
Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma
Wissenschaftlicher Artikel/Review - 16.07.2020
Thorball Christian W, Rauch Andri, Battegay Manuel, Hoffmann Matthias, Schmid Patrick, Bernasconi Enos, Günthard Huldrych F, Mohammadi Pejman, McLaren Paul J, Rabkin Charles S, Besson Caroline, Cavassini Matthias, Theodorou Ioannis, Oudot-Mellakh Tiphaine, Ehsan Nava, Hammer Christian, Santoni Federico A, Niay Jonathan, Costagliola Dominique, Goujard Cécile, Meyer Laurence, Wang Sophia S, Hussain Shehnaz K, Fellay Jacques
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Kurzbeschreibung/Zielsetzung
Human immunodeficiency virus (HIV) infection is associated with an increased risk of non-Hodgkin lymphoma (NHL). Even in the era of suppressive antiretroviral treatment, HIV-infected individuals remain at higher risk of developing NHL compared to the general population. To identify potential genetic risk loci, we performed case-control genome-wide association studies and a meta-analysis across three cohorts of HIV+ patients of European ancestry, including a total of 278 cases and 1924 matched controls. We observed a significant association with NHL susceptibility in the C-X-C motif chemokine ligand 12 (CXCL12) region on chromosome 10. A fine mapping analysis identified rs7919208 as the most likely causal variant (P = 4.77e-11), with the G>A polymorphism creating a new transcription factor binding site for BATF and JUND. These results suggest a modulatory role of CXCL12 regulation in the increased susceptibility to NHL observed in the HIV-infected population.