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

被引：155

作者：

Berndt, Sonja I. ^{[1
]}

Skibola, Christine F. ^{[2
,3
]}

Joseph, Vijai ^{[4
]}

Camp, Nicola J. ^{[5
]}

Nieters, Alexandra ^{[6
]}

Wang, Zhaoming ^{[7
]}

Cozen, Wendy ^{[8
]}

Monnereau, Alain ^{[9
,10
]}

Wang, Sophia S. ^{[11
]}

Kelly, Rachel S. ^{[12
]}

Lan, Qing ^{[1
]}

Teras, Lauren R. ^{[13
]}

Chatterjee, Nilanjan ^{[1
]}

Chung, Charles C. ^{[1
,7
]}

Yeager, Meredith ^{[7
]}

Brooks-Wilson, Angela R. ^{[14
,15
]}

Hartge, Patricia ^{[1
]}

Purdue, Mark P. ^{[1
]}

Birmann, Brenda M. ^{[16
,17
]}

Armstrong, Bruce K. ^{[18
]}

Cocco, Pierluigi ^{[19
]}

Zhang, Yawei ^{[20
]}

Severi, Gianluca ^{[21
]}

Zeleniuch-Jacquotte, Anne ^{[22
]}

Lawrence, Charles ^{[23
]}

Burdette, Laurie ^{[7
]}

Yuenger, Jeffrey ^{[7
]}

Hutchinson, Amy ^{[7
]}

Jacobs, Kevin B. ^{[7
]}

Call, Timothy G. ^{[24
]}

Shanafelt, Tait D. ^{[25
]}

Novak, Anne J. ^{[25
]}

Kay, Neil E. ^{[24
]}

Liebow, Mark ^{[26
]}

Wang, Alice H. ^{[27
]}

Smedby, Karin E. ^{[28
,29
]}

Adami, Hans-Olov ^{[30
,31
]}

Melbye, Mads ^{[32
]}

Glimelius, Bengt ^{[29
,33
]}

Chang, Ellen T. ^{[34
,35
]}

Glenn, Martha ^{[36
]}

Curtin, Karen ^{[5
]}

Cannon-Albright, Lisa A. ^{[5
,37
]}

Jones, Brandt ^{[5
]}

Diver, W. Ryan ^{[13
]}

Link, Brian K. ^{[38
]}

Weiner, George J. ^{[38
]}

Conde, Lucia ^{[2
,3
]}

Bracci, Paige M. ^{[39
]}

Riby, Jacques ^{[2
]}

机构：

[1] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[2] Univ Calif Berkeley, Sch Publ Hlth, Div Environm Hlth Sci, Berkeley, CA 94720 USA

[3] Univ Alabama Birmingham, Sch Publ Hlth, Birmingham, AL 35294 USA

[4] Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10021 USA

[5] Univ Utah, Sch Med, Dept Internal Med, Salt Lake City, UT USA

[6] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Hesse, Germany

[7] NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[8] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[9] INSERM, U1018 EQ6, Villejuif, France

[10] Inst Bergonie, Registre Hemopathies Malignes Gironde, Bordeaux, France

[11] City Hope Beckman Res Inst, Div Canc Etiol, Duarte, CA USA

[12] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, MRC HPA Ctr Environm & Hlth, London, England

[13] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA

[14] BC Canc Agcy, Genome Sci Ctr, Vancouver, BC, Canada

[15] Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada

[16] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA

[17] Harvard Univ, Sch Med, Boston, MA USA

[18] Univ Sydney, Sydney Sch Publ Hlth, Sydney, NSW 2006, Australia

[19] Univ Cagliari, Dept Publ Hlth Clin & Mol Med, Cagliari, Italy

[20] Yale Univ, Sch Publ Hlth, Dept Environm Hlth Sci, New Haven, CT USA

[21] Canc Council Victoria, Canc Epidemiol Ctr, Carlton, Vic, Australia

[22] NYU, Sch Med, Dept Populat Hlth, New York, NY USA

[23] WESTAT Corp, Hlth Studies Sector, Rockville, MD 20850 USA

[24] Mayo Clin, Coll Med, Div Hematol, Rochester, MN USA

[25] Mayo Clin, Coll Med, Dept Med, Rochester, MN USA

[26] Mayo Clin, Coll Med, Div Gen Internal Med, Rochester, MN USA

[27] Mayo Clin, Coll Med, Rochester, MN 55905 USA

[28] Karolinska Inst, Dept Med Solna, Stockholm, Sweden

[29] Karolinska Inst, Karolinska Univ Hosp Solna, Dept Pathol & Oncol, Stockholm, Sweden

[30] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[31] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[32] Statens Serum Inst, Div Hlth Surveillance & Res, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark

[33] Uppsala Univ, Dept Radiol Oncol & Radiat Sci, Uppsala, Sweden

[34] Exponent Inc, Hlth Sci, Ctr Epidemiol & Computat Biol, Menlo Pk, CA USA

[35] Stanford Univ, Sch Med, Div Epidemiol, Dept Hlth Res & Policy, Stanford, CA 94305 USA

[36] Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT USA

[37] George E Wahlen Dept Vet Affairs Med Ctr, Salt Lake City, UT USA

[38] Univ Iowa, Dept Internal Med, Carver Coll Med, Iowa City, IA 52242 USA

[39] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA

[40] Ohio State Univ, Div Endocrinol Diabet & Metab, Columbus, OH 43210 USA

[41] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

[42] Inst Invest Biomed Bellvitge IDIBELL, Canc Epidemiol Res Programme, Unit Infect & Canc UNIC, Barcelona, Spain

[43] CIBERESP, Barcelona, Spain

[44] German Canc Res Ctr, Div Canc Epidemiol, Baden, Switzerland

[45] Mt Sinai Sch Med, Tisch Canc Inst, New York, NY USA

[46] Int Agcy Res Canc, Genet Sect, Grp Genet Epidemiol, F-69372 Lyon, France

[47] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic

[48] Univ Burgundy, Registre Hemopathies Malignes Cote dOr, EA 4184, Dijon, France

[49] Int Agcy Res Canc, Genet Sect, Genet Canc Susceptibil Grp, F-69372 Lyon, France

[50] Dublin City Univ, Sch Nursing & Human Sci, Dublin 9, Leinster, Ireland

来源：

NATURE GENETICS | 2013年 / 45卷 / 08期

基金：

美国国家卫生研究院;

关键词：

CANCER SUSCEPTIBILITY LOCI; FAS GENE-MUTATIONS; LINKAGE DISEQUILIBRIUM; EPIDEMIOLOGIC RESEARCH; TERT-CLPTM1L LOCUS; LYMPHOID NEOPLASMS; COMMON VARIATION; BREAST-CANCER; VARIANTS; APOPTOSIS;

D O I：

10.1038/ng.2652

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 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.

引用

页码：868 / 876

页数：9

共 63 条

[1] Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies
Abnet, Christian C.
Wang, Zhaoming
Song, Xin
Hu, Nan
Zhou, Fu-You
Freedman, Neal D.
Li, Xue-Min
Yu, Kai
Shu, Xiao-Ou
Yuan, Jian-Min
Zheng, Wei
Dawsey, Sanford M.
Liao, Linda M.
Lee, Maxwell P.
Ding, Ti
Qiao, You-Lin
Gao, Yu-Tang
Koh, Woon-Puay
Xiang, Yong-Bing
Tang, Ze-Zhong
Fan, Jin-Hu
Chung, Charles C.
Wang, Chaoyu
Wheeler, William
Yeager, Meredith
Yuenger, Jeff
Hutchinson, Amy
Jacobs, Kevin B.
Giffen, Carol A.
Burdett, Laurie
Fraumeni, Joseph F., Jr.
Tucker, Margaret A.
Chow, Wong-Ho
Zhao, Xue-Ke
Li, Jiang-Man
Li, Ai-Li
Sun, Liang-Dan
Wei, Wu
Li, Ji-Lin
Zhang, Peng
Li, Hong-Lei
Cui, Wen-Yan
Wang, Wei-Peng
Liu, Zhi-Cai
Yang, Xia
Fu, Wen-Jing
Cui, Ji-Li
Lin, Hong-Li
Zhu, Wen-Liang
Liu, Min
[J]. HUMAN MOLECULAR GENETICS, 2012, 21 (09) : 2132 - 2141
[2] Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site
Albright, Frederick
Teerlink, Craig
Werner, Theresa L.
Cannon-Albright, Lisa A.
[J]. BMC CANCER, 2012, 12
[3] A map of human genome variation from population-scale sequencing
Altshuler, David
Durbin, Richard M.
Abecasis, Goncalo R.
Bentley, David R.
Chakravarti, Aravinda
Clark, Andrew G.
Collins, Francis S.
De la Vega, Francisco M.
Donnelly, Peter
Egholm, Michael
Flicek, Paul
Gabriel, Stacey B.
Gibbs, Richard A.
Knoppers, Bartha M.
Lander, Eric S.
Lehrach, Hans
Mardis, Elaine R.
McVean, Gil A.
Nickerson, DebbieA.
Peltonen, Leena
Schafer, Alan J.
Sherry, Stephen T.
Wang, Jun
Wilson, Richard K.
Gibbs, Richard A.
Deiros, David
Metzker, Mike
Muzny, Donna
Reid, Jeff
Wheeler, David
Wang, Jun
Li, Jingxiang
Jian, Min
Li, Guoqing
Li, Ruiqiang
Liang, Huiqing
Tian, Geng
Wang, Bo
Wang, Jian
Wang, Wei
Yang, Huanming
Zhang, Xiuqing
Zheng, Huisong
Lander, Eric S.
Altshuler, David L.
Ambrogio, Lauren
Bloom, Toby
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
[J]. NATURE, 2010, 467 (7319) : 1061 - 1073
[4] Genome-wide association study identifies three new melanoma susceptibility loci
Barrett, Jennifer H.
Iles, Mark M.
Harland, Mark
Taylor, John C.
Aitken, Joanne F.
Andresen, Per Arne
Akslen, Lars A.
Armstrong, Bruce K.
Avril, Marie-Francoise
Azizi, Esther
Bakker, Bert
Bergman, Wilma
Bianchi-Scarra, Giovanna
Bressac-de Paillerets, Brigitte
Calista, Donato
Cannon-Albright, Lisa A.
Corda, Eve
Cust, Anne E.
Debniak, Tadeusz
Duffy, David
Dunning, Alison M.
Easton, Douglas F.
Friedman, Eitan
Galan, Pilar
Ghiorzo, Paola
Giles, Graham G.
Hansson, Johan
Hocevar, Marko
Hoeiom, Veronica
Hopper, John L.
Ingvar, Christian
Janssen, Bart
Jenkins, Mark A.
Joensson, Goeran
Kefford, Richard F.
Landi, Giorgio
Landi, Maria Teresa
Lang, Julie
Lubinski, Jan
Mackie, Rona
Malvehy, Josep
Martin, Nicholas G.
Molven, Anders
Montgomery, Grant W.
van Nieuwpoort, Frans A.
Novakovic, Srdjan
Olsson, Hakan
Pastorino, Lorenza
Puig, Susana
Puig-Butille, Joan Anton
[J]. NATURE GENETICS, 2011, 43 (11) : 1108 - U98
[5] In non-follicular lymphoproliferative disorders, IGH/BCL2-fusion is not restricted to chronic lymphocytic leukaemia
Baseggio, Lucile
Geay, Marie-Odile
Gazzo, Sophie
Berger, Francoise
Traverse-Glehen, Alexandra
Ffrench, Martine
Hayette, Sandrine
Callet-Bauchu, Evelyne
Verney, Aurelie
Morel, Dominique
Jallades, Laurent
Magaud, Jean-Pierre
Salles, Gilles
Felman, Pascale
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 2012, 158 (04) : 489 - 498
[6] Polymorphic Cis- and Trans-Regulation of Human Gene Expression
Cheung, Vivian G.
Nayak, Renuka R.
Wang, Isabel Xiaorong
Elwyn, Susannah
Cousins, Sarah M.
Morley, Michael
Spielman, Richard S.
[J]. PLOS BIOLOGY, 2010, 8 (09)
[7] CLONING AND STRUCTURAL-ANALYSIS OF CDNAS FOR BCL-2 AND A HYBRID BCL-2/IMMUNOGLOBULIN TRANSCRIPT RESULTING FROM THE T(14-18) TRANSLOCATION
CLEARY, ML
SMITH, SD
SKLAR, J
[J]. CELL, 1986, 47 (01) : 19 - 28
[8] Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
Conde, Lucia
Halperin, Eran
Akers, Nicholas K.
Brown, Kevin M.
Smedby, Karin E.
Rothman, Nathaniel
Nieters, Alexandra
Slager, Susan L.
Brooks-Wilson, Angela
Agana, Luz
Riby, Jacques
Liu, Jianjun
Adami, Hans-Olov
Darabi, Hatef
Hjalgrim, Henrik
Low, Hui-Qi
Humphreys, Keith
Melbye, Mads
Chang, Ellen T.
Glimelius, Bengt
Cozen, Wendy
Davis, Scott
Hartge, Patricia
Morton, Lindsay M.
Schenk, Maryjean
Wang, Sophia S.
Armstrong, Bruce
Kricker, Anne
Milliken, Sam
Purdue, Mark P.
Vajdic, Claire M.
Boyle, Peter
Lan, Qing
Zahm, Shelia H.
Zhang, Yawei
Zheng, Tongzhang
Becker, Nikolaus
Benavente, Yolanda
Boffetta, Paolo
Brennan, Paul
Butterbach, Katja
Cocco, Pierluigi
Foretova, Lenka
Maynadie, Marc
de Sanjose, Silvia
Staines, Anthony
Spinelli, John J.
Achenbach, Sara J.
Call, Timothy G.
Camp, Nicola J.
[J]. NATURE GENETICS, 2010, 42 (08) : 661 - 664
[9] A common coding variant in CASP8 is associated with breast cancer risk
Cox, Angela
Dunning, Alison M.
Garcia-Closas, Montserrat
Balasubramanian, Sabapathy
Reed, Malcolm W. R.
Pooley, Karen A.
Scollen, Serena
Baynes, Caroline
Ponder, Bruce A. J.
Chanock, Stephen
Lissowska, Jolanta
Brinton, Louise
Peplonska, Beata
Southey, Melissa C.
Hopper, John L.
McCredie, Margaret R. E.
Giles, Graham G.
Fletcher, Olivia
Johnson, Nichola
dos Santos Silva, Isabel
Gibson, Lorna
Bojesen, Stig E.
Nordestgaard, Borge G.
Axelsson, Christen K.
Torres, Diana
Hamann, Ute
Justenhoven, Christina
Brauch, Hiltrud
Chang-Claude, Jenny
Kropp, Silke
Risch, Angela
Wang-Gohrke, Shan
Schuermann, Peter
Bogdanova, Natalia
Doerk, Thilo
Fagerholm, Rainer
Aaltonen, Kirsimari
Blomqvist, Carl
Nevanlinna, Heli
Seal, Sheila
Renwick, Anthony
Stratton, Michael R.
Rahman, Nazneen
Sangrajrang, Suleeporn
Hughes, David
Odefrey, Fabrice
Brennan, Paul
Spurdle, Amanda B.
Chenevix-Trench, Georgia
Beesley, Jonathan
[J]. NATURE GENETICS, 2007, 39 (03) : 352 - 358
[10] Evidence for substantial fine-scale variation in recombination rates across the human genome
Crawford, DC
Bhangale, T
Li, N
Hellenthal, G
Rieder, MJ
Nickerson, DA
Stephens, M
[J]. NATURE GENETICS, 2004, 36 (07) : 700 - 706

← 1 2 3 4 5 6 7 →