Journal Article


Stephen J Chanock
Nathaniel Rothman
Christine F Skibola
Gilles Salles
Karin E Smedby
Silvia de Sanjose
Xifeng Wu
Susan L Slager
Joseph F Fraumeni
Nilanjan Chatterjee
and 112 others



likelihood functions genome wide association study genetic predisposition to disease lymphoma large b cell diffuse humans genotype european continental ancestry group computational biology polymorphism single nucleotide chromosome mapping genetics genetic loci quantitative trait loci

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. (2014)

Abstract 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.
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Full list of authors on original publication

Stephen J Chanock, Nathaniel Rothman, Christine F Skibola, Gilles Salles, Karin E Smedby, Silvia de Sanjose, Xifeng Wu, Susan L Slager, Joseph F Fraumeni, Nilanjan Chatterjee and 112 others

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