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Diffuse large B-cell lymphoma (DLBCL) is one of the most aggressive cancers of B-lymphocytes. To investigate genetic susceptibility factors for DLBCL, we performed single-nucleotide polymorphism based genome-wide association study (GWAS) in a total of 399 DLBCL cases and 4243 controls of Japanese population. By following two-stage GWAS approach and an independent replication study, we identified disease susceptibility locus within intron 3 of the CDC42BPB gene on 14q32 (rs751837; P=3.30 × 10(-7) and odds ratio (OR) of 3.5), a region of frequent chromosomal translocations in lymphoma, and variant on 13q12 (rs7097; P=6.57 × 10(-6) and OR of 1.43) which harbors the notch signaling mediator, LNX2 gene. Our findings would contribute to the understanding of DLBCL risk and also may lead to the elucidation of its molecular pathogenesis.


Vinod Kumar, Keitaro Matsuo, Atsushi Takahashi, Naoya Hosono, Tatsuhiko Tsunoda, Naoyuki Kamatani, Sun-Young Kong, Hidewaki Nakagawa, Ri Cui, Chizu Tanikawa, Masao Seto, Yasuo Morishima, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda. Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. Journal of human genetics. 2011 Jun;56(6):436-9

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PMID: 21471979

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