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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
Journal article   Open access   Peer reviewed

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

James R. Cerhan, Sonja I. Berndt, Joseph Vijai, Herve Ghesquieres, James McKay, Sophia S. Wang, Zhaoming Wang, Meredith Yeager, Lucia Conde, Paul I. W. de Bakker, …
Nature genetics, v 46(11), pp 1233-1238
01 Nov 2014
PMID: 25261932
url
https://europepmc.org/articles/pmc4213349?pdf=renderView
Accepted (AM)Open Access (License Unspecified) Open

Abstract

Genetics & Heredity Life Sciences & Biomedicine Science & Technology
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 x 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 x 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 x 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 x 10(-13) and 3.63 x 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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