Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
A partir de données issues d'études d'association sur le génome entier portant sur un total de 5 216 patients atteints d'un lymphome diffus à grandes cellules B et 12 223 témoins, cette méta-analyse identifie plusieurs nouveaux loci de susceptibilité à la maladie
Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10−21), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10−10), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10−8) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 × 10−13 and 3.63 × 10−11, respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.