Syracuse

Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma

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Thorball, Christian, W | Oudot-Mellakh, Tiphaine | Ehsan, Nava | Hammer, Christian | Santoni, Federico, A | Niay, Jonathan | Costagliola, Dominique | Goujard, Cécile | Meyer, Laurence | Wang, Sophia, S | Hussain, Shehnaz, K | Theodorou, Ioannis | Cavassini, Matthias | Rauch, Andri | Battegay, Manuel | Hoffmann, Matthias | Schmid, Patrick | Bernasconi, Enos | Günthard, Huldrych, F | Mohammadi, Pejman | Mclaren, Paul, J | Rabkin, Charles, S | Besson, Caroline | Fellay, Jacques

Edité par CCSD ; Ferrata Storti Foundation -

International audience. 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.

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