title: Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
abstract: 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.
authors.affiliation: Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, the University of Tokyo, Tokyo, Japan.
authors.forename: Vinod
authors.initials: V
authors.lastname: Kumar
authors.forename: Keitaro
authors.initials: K
authors.lastname: Matsuo
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takahashi
authors.forename: Naoya
authors.initials: N
authors.lastname: Hosono
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Tsunoda
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Kong
authors.forename: Hidewaki
authors.initials: H
authors.lastname: Nakagawa
authors.forename: Ri
authors.initials: R
authors.lastname: Cui
authors.forename: Chizu
authors.initials: C
authors.lastname: Tanikawa
authors.forename: Masao
authors.initials: M
authors.lastname: Seto
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Morishima
authors.forename: Michiaki
authors.initials: M
authors.lastname: Kubo
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Koichi
authors.initials: K
authors.lastname: Matsuda
mesh_terms: D000328:Adult; D000368:Aged; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D065636:Myotonin-Protein Kinase; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics
chemical_list: C118666:CDC42BPB protein, human; D011505:Protein-Tyrosine Kinases; D065636:Myotonin-Protein Kinase