Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Berndt, Sonja I.; Si, Berndt; Cf, Skibola; Skibola, Christine F.; Joseph, Vijai; Camp, Nicola J.; Nj, Camp; Nieters, Alexandra; Wang, Zhaoming; Cozen, Wendy; Monnereau, Alain; Ss, Wang; Wang, Sophia Ss; Kelly, Rachel S.; Rs, Kelly; Lan, Qing; Lr, Teras; Teras, Lauren R.; Chatterjee, Nilanjan; Cc, Chung; Chung, Charles Cc; Yeager, Meredith; Ar, Brooks Wilson; Brooks-Wilson, Angela R.; Hartge, Patricia; Mp, Purdue; Purdue, Mark P.; Birmann, Brenda M.; Bm, Birmann; Armstrong, Bruce K.; Bk, Armstrong; Cocco, Pierluigi; Zhang, Yawei; Severi, Gianluca; Zeleniuch-Jacquotte, Anne; Lawrence, Charles; Burdette, Laurie; Kb, Jacobs; Yuenger, Jeffrey; Hutchinson, Amy; Tg, Call; Jacobs, Kevin B.; Call, Timothy G.; Td, Shanafelt; Shanafelt, Tait D.; Aj, Novak; Novak, Anne J.; Kay, Neil E.; Ne, Kay; Liebow, Mark; Ah, Wang; Wang, Alice H.; Ke, Smedby; Smedby, Karin E.; Adami, Hans-Olov; Ho, Adami; Melbye, Mads; Glimelius, Bengt; Chang, Ellen T.; Et, Chang; Glenn, Martha; Curtin, Karen; Cannon-Albright, Lisa A.; La, Cannon Albright; Jones, Brandt; Diver, Wr Ryan; Wr, Diver; Bk, Link; Link, Brian K.; Gj, Weiner; Weiner, George J.; Conde, Lucia; Bracci, Paige M.; Pm, Bracci; Riby, Jacques; Ea, Holly; Holly, Elizabeth A.; Mt, Smith; Smith, Martyn T.; Jackson, Rebecca D.; Rd, Jackson; Tinker, Lesley F.; Lf, Tinker; Benavente, Yolanda; Becker, Nikolaus; Boffetta, Paolo; Brennan, Paul; Foretova, Lenka; Maynadie, Marc; McKay, James; Staines, Anthony; Kg, Rabe; Rabe, Kari G.; Achenbach, Sara J.; Sj, Achenbach; Cm, Vachon; Vachon, Celine M.; Goldin, Lynn R.; Lr, Goldin; Ss, Strom; Strom, Sara Ss; Lanasa, Mark C.; Mc, Lanasa; Spector, Logan G.; Lg, Spector; Leis, Jose F.; Cunningham, Julie M.; Jf, Leis; Weinberg, Jb Brice; Morrison, Vicki A.; Jm, Cunningham; Caporaso, Neil E.; Norman, Aaron D.; Jb, Weinberg; Linet, Martha S.; De Roos, Anneclaire J.; Va, Morrison; Morton, Lindsay M.; Severson, Richard K.; Ne, Caporaso; Riboli, Elio; Vineis, Paolo; Ad, Norman; Kaaks, Rudolph; Trichopoulos, Dimitrios; Ms, Linet; Masala, Giovanna; Weiderpass, Elisabete; Aj, De Roos; Lm, Morton; Vermeulen, Roel C. H.; Rk, Severson; Travis, Ruth C.; Giles, Graham Gg; Chirlaque, Mara-Dolores; Albanes, Demetrius; Virtamo, Jarmo; Md, Chirlaque; Weinstein, Stephanie; Clavel, Jacqueline; Rc, Vermeulen; Zheng, Tongzhang; Holford, Theodore R.; Rc, Travis; Offit, Kenneth; Zelenetz, Andrew; Gg, Giles; Klein, Robert J.; Spinelli, John Jj; Tr, Holford; Bertrand, Kimberly A.; Laden, Francine; Rj, Klein; Giovannucci, Edward; Kraft, Peter; Jj, Spinelli; Kricker, Anne; Turner, Jenny; Ka, Bertrand; Vajdic, Claire M.; Ennas, Maria Grazia; Cm, Vajdic; Ferri, Giovanni M.; Miligi, Lucia; Mg, Ennas; Liang, Liming; Sampson, Joshua; Gm, Ferri; Crouch, Simon; Park, Ju-Hyun; Jh, Park; North, Kari E.; Cox, Angela; Ke, North; Snowden, John A.; Wright, Josh; Ja, Snowden; Carracedo, Angel; Lopez-Otin, Carlos; Bea, Silvia; Salaverria, Itziar; Martin-Garcia, David; Campo, Elias; Fraumeni, Joseph F.; Jf, Fraumeni; de Sanjose, Silvia; Hjalgrim, Henrik; Cerhan, James R.; Jr, Cerhan; Chanock, Stephen J.; Sj, Chanock; Rothman, Nathaniel; Sl, Slager; Slager, Susan L.

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Vijai Joseph
Berndt et al., 2013

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@article{Berndt2013,
  abstract = {Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 × 10−14), 18q21.33 (BCL2, P = 7.76 × 10−11), 11p15.5 (C11orf21, P = 2.15 × 10−10), 4q25 (LEF1, P = 4.24 × 10−10), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 × 10−9), 9p21.3 (CDKN2B-AS1, P = 1.27 × 10−8), 18q21.32 (PMAIP1, P = 2.51 × 10−8), 15q15.1 (BMF, P = 2.71 × 10−10) and 2p22.2 (QPCT, P = 1.68 × 10−8), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 × 10−18). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 × 10−8) and 5p15.33 (TERT, P = 1.92 × 10−7). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.},
  author = {Berndt, Sonja I. and Si, Berndt and Cf, Skibola and Skibola, Christine F. and Joseph, Vijai and Camp, Nicola J. and Nj, Camp and Nieters, Alexandra and Wang, Zhaoming and Cozen, Wendy and Monnereau, Alain and Ss, Wang and Wang, Sophia Ss and Kelly, Rachel S. and Rs, Kelly and Lan, Qing and Lr, Teras and Teras, Lauren R. and Chatterjee, Nilanjan and Cc, Chung and Chung, Charles Cc and Yeager, Meredith and Ar, Brooks Wilson and Brooks-Wilson, Angela R. and Hartge, Patricia and Mp, Purdue and Purdue, Mark P. and Birmann, Brenda M. and Bm, Birmann and Armstrong, Bruce K. and Bk, Armstrong and Cocco, Pierluigi and Zhang, Yawei and Severi, Gianluca and Zeleniuch-Jacquotte, Anne and Lawrence, Charles and Burdette, Laurie and Kb, Jacobs and Yuenger, Jeffrey and Hutchinson, Amy and Tg, Call and Jacobs, Kevin B. and Call, Timothy G. and Td, Shanafelt and Shanafelt, Tait D. and Aj, Novak and Novak, Anne J. and Kay, Neil E. and Ne, Kay and Liebow, Mark and Ah, Wang and Wang, Alice H. and Ke, Smedby and Smedby, Karin E. and Adami, Hans-Olov and Ho, Adami and Melbye, Mads and Glimelius, Bengt and Chang, Ellen T. and Et, Chang and Glenn, Martha and Curtin, Karen and Cannon-Albright, Lisa A. and La, Cannon Albright and Jones, Brandt and Diver, Wr Ryan and Wr, Diver and Bk, Link and Link, Brian K. and Gj, Weiner and Weiner, George J. and Conde, Lucia and Bracci, Paige M. and Pm, Bracci and Riby, Jacques and Ea, Holly and Holly, Elizabeth A. and Mt, Smith and Smith, Martyn T. and Jackson, Rebecca D. and Rd, Jackson and Tinker, Lesley F. and Lf, Tinker and Benavente, Yolanda and Becker, Nikolaus and Boffetta, Paolo and Brennan, Paul and Foretova, Lenka and Maynadie, Marc and McKay, James and Staines, Anthony and Kg, Rabe and Rabe, Kari G. and Achenbach, Sara J. and Sj, Achenbach and Cm, Vachon and Vachon, Celine M. and Goldin, Lynn R. and Lr, Goldin and Ss, Strom and Strom, Sara Ss and Lanasa, Mark C. and Mc, Lanasa and Spector, Logan G. and Lg, Spector and Leis, Jose F. and Cunningham, Julie M. and Jf, Leis and Weinberg, Jb Brice and Morrison, Vicki A. and Jm, Cunningham and Caporaso, Neil E. and Norman, Aaron D. and Jb, Weinberg and Linet, Martha S. and De Roos, Anneclaire J. and Va, Morrison and Morton, Lindsay M. and Severson, Richard K. and Ne, Caporaso and Riboli, Elio and Vineis, Paolo and Ad, Norman and Kaaks, Rudolph and Trichopoulos, Dimitrios and Ms, Linet and Masala, Giovanna and Weiderpass, Elisabete and Aj, De Roos and Lm, Morton and Vermeulen, Roel C. H. and Rk, Severson and Travis, Ruth C. and Giles, Graham Gg and Chirlaque, Mara-Dolores and Albanes, Demetrius and Virtamo, Jarmo and Md, Chirlaque and Weinstein, Stephanie and Clavel, Jacqueline and Rc, Vermeulen and Zheng, Tongzhang and Holford, Theodore R. and Rc, Travis and Offit, Kenneth and Zelenetz, Andrew and Gg, Giles and Klein, Robert J. and Spinelli, John Jj and Tr, Holford and Bertrand, Kimberly A. and Laden, Francine and Rj, Klein and Giovannucci, Edward and Kraft, Peter and Jj, Spinelli and Kricker, Anne and Turner, Jenny and Ka, Bertrand and Vajdic, Claire M. and Ennas, Maria Grazia and Cm, Vajdic and Ferri, Giovanni M. and Miligi, Lucia and Mg, Ennas and Liang, Liming and Sampson, Joshua and Gm, Ferri and Crouch, Simon and Park, Ju-Hyun and Jh, Park and North, Kari E. and Cox, Angela and Ke, North and Snowden, John A. and Wright, Josh and Ja, Snowden and Carracedo, Angel and Lopez-Otin, Carlos and Bea, Silvia and Salaverria, Itziar and Martin-Garcia, David and Campo, Elias and Fraumeni, Joseph F. and Jf, Fraumeni and de Sanjose, Silvia and Hjalgrim, Henrik and Cerhan, James R. and Jr, Cerhan and Chanock, Stephen J. and Sj, Chanock and Rothman, Nathaniel and Sl, Slager and Slager, Susan L.},
  doi = {10.1038/ng.2652},
  month = {jun},
  title = {Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia},
  url = {http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729927},
  year = {2013}
}

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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Journal article published in 2013 by Sonja I. Berndt, Berndt Si, Skibola Cf, Christine F. Skibola, Vijai Joseph

, Nicola J. Camp, Camp Nj, Alexandra Nieters, Zhaoming Wang, Wendy Cozen, Alain Monnereau, Wang Ss, Sophia Ss Wang, Rachel S. Kelly, Kelly Rs and other authors. Sonja I. Berndt, Berndt Si, Skibola Cf, Christine F. Skibola, Vijai Joseph

, Nicola J. Camp, Camp Nj, Alexandra Nieters, Zhaoming Wang, Wendy Cozen, Alain Monnereau, Wang Ss, Sophia Ss Wang, Rachel S. Kelly, Kelly Rs, Qing Lan, Teras Lr, Lauren R. Teras, Nilanjan Chatterjee, Chung Cc, Charles Cc Chung, Meredith Yeager, Brooks Wilson Ar, Angela R. Brooks-Wilson, Patricia Hartge, Purdue Mp, Mark P. Purdue, Brenda M. Birmann, Birmann Bm, Bruce K. Armstrong, Armstrong Bk, Pierluigi Cocco, Yawei Zhang, Gianluca Severi, Anne Zeleniuch-Jacquotte

, Charles Lawrence, Laurie Burdette, Jacobs Kb, Jeffrey Yuenger, Amy Hutchinson, Call Tg, Kevin B. Jacobs, Timothy G. Call, Shanafelt Td, Tait D. Shanafelt, Novak Aj, Anne J. Novak, Neil E. Kay, Kay Ne, Mark Liebow, Wang Ah, Alice H. Wang, Smedby Ke, Karin E. Smedby, Hans-Olov Adami, Adami Ho, Mads Melbye, Bengt Glimelius, Ellen T. Chang, Chang Et, Martha Glenn, Karen Curtin, Lisa A. Cannon-Albright, Cannon Albright La, Brandt Jones, Wr Ryan Diver, Diver Wr, Link Bk, Brian K. Link

, Weiner Gj, George J. Weiner, Lucia Conde, Paige M. Bracci, Bracci Pm, Jacques Riby, Holly Ea, Elizabeth A. Holly, Smith Mt, Martyn T. Smith, Rebecca D. Jackson, Jackson Rd, Lesley F. Tinker, Tinker Lf, Yolanda Benavente, Nikolaus Becker, Paolo Boffetta, Paul Brennan, Lenka Foretova, Marc Maynadie, James McKay, Anthony Staines

, Rabe Kg, Kari G. Rabe, Sara J. Achenbach, Achenbach Sj, Vachon Cm, Celine M. Vachon, Lynn R. Goldin, Goldin Lr, Strom Ss, Sara Ss Strom, Mark C. Lanasa, Lanasa Mc, Logan G. Spector, Spector Lg, Jose F. Leis, Julie M. Cunningham, Leis Jf, Jb Brice Weinberg, Vicki A. Morrison, Cunningham Jm, Neil E. Caporaso, Aaron D. Norman

, Weinberg Jb, Martha S. Linet, Anneclaire J. De Roos, Morrison Va, Lindsay M. Morton, Richard K. Severson, Caporaso Ne, Elio Riboli, Paolo Vineis, Norman Ad, Rudolph Kaaks, Dimitrios Trichopoulos, Linet Ms, Giovanna Masala

, Elisabete Weiderpass, De Roos Aj, Morton Lm, Roel C. H. Vermeulen, Severson Rk, Ruth C. Travis, Graham Gg Giles

, Mara-Dolores Chirlaque, Demetrius Albanes, Jarmo Virtamo, Chirlaque Md, Stephanie Weinstein, Jacqueline Clavel, Vermeulen Rc, Tongzhang Zheng, Theodore R. Holford, Travis Rc, Kenneth Offit, Andrew Zelenetz

, Giles Gg, Robert J. Klein, John Jj Spinelli, Holford Tr, Kimberly A. Bertrand, Francine Laden, Klein Rj, Edward Giovannucci, Peter Kraft, Spinelli Jj, Anne Kricker, Jenny Turner, Bertrand Ka, Claire M. Vajdic

, Maria Grazia Ennas, Vajdic Cm, Giovanni M. Ferri, Lucia Miligi, Ennas Mg, Liming Liang, Joshua Sampson, Ferri Gm, Simon Crouch, Ju-Hyun Park, Park Jh, Kari E. North, Angela Cox

, North Ke, John A. Snowden, Josh Wright, Snowden Ja, Angel Carracedo, Carlos Lopez-Otin, Silvia Bea, Itziar Salaverria, David Martin-Garcia, Elias Campo, Joseph F. Fraumeni, Fraumeni Jf, Silvia de Sanjose, Henrik Hjalgrim, James R. Cerhan, Cerhan Jr, Stephen J. Chanock, Chanock Sj, Nathaniel Rothman, Slager Sl, Susan L. Slager

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Abstract

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 × 10−14), 18q21.33 (BCL2, P = 7.76 × 10−11), 11p15.5 (C11orf21, P = 2.15 × 10−10), 4q25 (LEF1, P = 4.24 × 10−10), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 × 10−9), 9p21.3 (CDKN2B-AS1, P = 1.27 × 10−8), 18q21.32 (PMAIP1, P = 2.51 × 10−8), 15q15.1 (BMF, P = 2.71 × 10−10) and 2p22.2 (QPCT, P = 1.68 × 10−8), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 × 10−18). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 × 10−8) and 5p15.33 (TERT, P = 1.92 × 10−7). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Abstract