DOI: 10.1038/ng.3105

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

James R. Cerhan,Sonja I. Berndt,Joseph Vijai,Hervé Ghesquières,James D. McKay,Sophia Wang,Zhaoming Wang,Meredith Yeager,Lucía Conde,Paul I. W. de Bakker,Alexandra Nieters,David Cox,Laurie Burdett,A. Monnereau,Christopher R. Flowers,Anneclaire J. De Roos,Angela Brooks‐Wilson,Qing Lan,Gianluca Severi,Mads Melbye,Jian Gu,Rebecca D. Jackson,Eleanor Kane,Lauren R. Teras,Mark P. Purdue,Claire M. Vajdic,John J. Spinelli,Graham G. Giles,Demetrius Albanês,Rachel S. Kelly,Mariagrazia Zucca,Kimberly A. Bertrand,Anne Zeleniuch‐Jacquotte,Charles E. Lawrence,Amy Hutchinson,Degui Zhi,Thomas M. Habermann,Brian K. Link,Anne J. Novak,Ahmet Doğan,Yan W. Asmann,Mark Liebow,Carrie A. Thompson,Stephen M. Ansell,Thomas E. Witzig,George J. Weiner,Amélie S. Véron,Diana Zélénika,Hervé Tilly,Corinne Haı̈oun,Thierry Jo Molina,Henrik Hjalgrim,Bengt Glimelius,Hans‐Olov Adami,Paige M. Bracci,Jacques Riby,Martyn T. Smith,Elizabeth A. Holly,Wendy Cozen,Patricia Hartge,Lindsay M. Morton,Richard K. Severson,Lesley F. Tinker,Kari E. North,Nikolaus Becker,Yolanda Benavente,Paolo Boffetta,Paul Brennan,Lenka Foretová,Marc Maynadié,Anthony Staines,Tracy Lightfoot,Simon Crouch,Alex Smith,Eve Roman,W. Ryan Diver,Kenneth Offit,Andrew D. Zelenetz,Robert J. Klein,Danylo Villano,Tongzhang Zheng,Yawei Zhang,Theodore R. Holford,Anne Kricker,Jennifer Turner,Melissa C. Southey,Jacqueline Clavel,Jarmo Virtamo,Stephanie J. Weinstein,Elio Ríboli,Paolo Víneis,Rudolph Kaaks,Dimitrios Trichopoulos,Roel Vermeulen,Heiner Boeing,Anne Tjønneland,Emanuele Angelucci,Simonetta Di Lollo,Marco Rais,Brenda M. Birmann,Francine Laden,Edward Giovannucci,P. Kraft,Jinyan Huang,Baoshan Ma,Yuanqing Ye,Brian C.‐H. Chiu,Joshua N. Sampson,Liming Liang,Ju-Hyun Park,Charles C. Chung,Dennis D. Weisenburger,Nilanjan Chatterjee,Joseph F. Fraumeni,Susan L. Slager,Xifeng Wu,Sílvia de Sanjosé,Karin E. Smedby,Gilles Salles,Christine F. Skibola,Nathaniel Rothman,Stephen J. Chanock

Genome-wide association study

Biology

Diffuse large B-cell lymphoma

2014

James Cerhan and colleagues report genome-wide association and meta-analysis studies to identify genetic susceptibility loci for diffuse large B cell lymphoma. They identify four loci that influence genetic susceptibility to this B cell malignancy. 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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“Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma” is a paper by James R. Cerhan Sonja I. Berndt Joseph Vijai Hervé Ghesquières James D. McKay Sophia Wang Zhaoming Wang Meredith Yeager Lucía Conde Paul I. W. de Bakker Alexandra Nieters David Cox Laurie Burdett A. Monnereau Christopher R. Flowers Anneclaire J. De Roos Angela Brooks‐Wilson Qing Lan Gianluca Severi Mads Melbye Jian Gu Rebecca D. Jackson Eleanor Kane Lauren R. Teras Mark P. Purdue Claire M. Vajdic John J. Spinelli Graham G. Giles Demetrius Albanês Rachel S. Kelly Mariagrazia Zucca Kimberly A. Bertrand Anne Zeleniuch‐Jacquotte Charles E. Lawrence Amy Hutchinson Degui Zhi Thomas M. Habermann Brian K. Link Anne J. Novak Ahmet Doğan Yan W. Asmann Mark Liebow Carrie A. Thompson Stephen M. Ansell Thomas E. Witzig George J. Weiner Amélie S. Véron Diana Zélénika Hervé Tilly Corinne Haı̈oun Thierry Jo Molina Henrik Hjalgrim Bengt Glimelius Hans‐Olov Adami Paige M. Bracci Jacques Riby Martyn T. Smith Elizabeth A. Holly Wendy Cozen Patricia Hartge Lindsay M. Morton Richard K. Severson Lesley F. Tinker Kari E. North Nikolaus Becker Yolanda Benavente Paolo Boffetta Paul Brennan Lenka Foretová Marc Maynadié Anthony Staines Tracy Lightfoot Simon Crouch Alex Smith Eve Roman W. Ryan Diver Kenneth Offit Andrew D. Zelenetz Robert J. Klein Danylo Villano Tongzhang Zheng Yawei Zhang Theodore R. Holford Anne Kricker Jennifer Turner Melissa C. Southey Jacqueline Clavel Jarmo Virtamo Stephanie J. Weinstein Elio Ríboli Paolo Víneis Rudolph Kaaks Dimitrios Trichopoulos Roel Vermeulen Heiner Boeing Anne Tjønneland Emanuele Angelucci Simonetta Di Lollo Marco Rais Brenda M. Birmann Francine Laden Edward Giovannucci P. Kraft Jinyan Huang Baoshan Ma Yuanqing Ye Brian C.‐H. Chiu Joshua N. Sampson Liming Liang Ju-Hyun Park Charles C. Chung Dennis D. Weisenburger Nilanjan Chatterjee Joseph F. Fraumeni Susan L. Slager Xifeng Wu Sílvia de Sanjosé Karin E. Smedby Gilles Salles Christine F. Skibola Nathaniel Rothman Stephen J. Chanock published in 2014. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.