Thorball, Christian W.Oudot-Mellakh, TiphaineEhsan, NavaHammer, ChristianSantoni, Federico A.Niay, JonathanCostagliola, DominiqueGoujard, CecileMeyer, LaurenceWang, Sophia S.Hussain, Shehnaz K.Theodorou, IoannisCavassini, MatthiasRauch, AndriBattegay, ManuelHoffmann, MatthiasSchmid, PatrickBernasconi, EnosGunthard, Huldrych F.Mohammadi, PejmanMcLaren, Paul J.Rabkin, Charles S.Besson, CarolineFellay, Jacques2021-08-282021-08-282021-08-282021-08-0110.3324/haematol.2020.247023https://infoscience.epfl.ch/handle/20.500.14299/181046WOS:000683891900023Human 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. In order to identify potential genetic risk loci, we performed case-control genome-wide association studies and a meta-analysis across three cohorts of HIV-infected patients of European ancestry, including a total of 278 cases and 1,924 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.HematologyHematologygenome-wide associationinfected individualsfollicular lymphomacancer-riskvariantslociimmunodeficiencyexpressionchemokinecommontext::journal::journal article::research article