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

被引：134

作者：

Cerhan, James R. ^{[1
]}

Berndt, Sonja I. ^{[2
]}

Vijai, Joseph ^{[2
]}

Ghesquieres, Herve ^{[4
,5
]}

McKay, James ^{[6
]}

Wang, Sophia S. ^{[7
]}

Wang, Zhaoming ^{[8
]}

Yeager, Meredith ^{[8
]}

Conde, Lucia ^{[9
,10
,11
]}

de Bakker, Paul I. W. ^{[12
,13
]}

Nieters, Alexandra ^{[14
]}

Cox, David ^{[15
]}

Burdett, Laurie ^{[8
]}

Monnereau, Alain ^{[16
,17
,18
]}

Flowers, Christopher R. ^{[19
]}

De Roos, Anneclaire J. ^{[8
,20
,21
]}

Brooks-Wilson, Angela R. ^{[22
,23
]}

Lan, Qing ^{[2
]}

Severi, Gianluca ^{[24
,25
,26
]}

Melbye, Mads ^{[27
,28
]}

Gu, Jian ^{[29
]}

Jackson, Rebecca D. ^{[30
]}

Kane, Eleanor ^{[31
]}

Teras, Lauren R. ^{[32
]}

Purdue, Mark P. ^{[2
]}

Vajdic, Claire M. ^{[33
]}

Spinelli, John J. ^{[34
,35
]}

Giles, Graham G. ^{[25
,26
]}

Albanes, Demetrius ^{[2
]}

Kelly, Rachel S. ^{[36
,37
]}

Zucca, Mariagrazia ^{[38
]}

Bertrand, Kimberly A. ^{[36
,39
,40
]}

Zeleniuch-Jacquotte, Anne ^{[41
,42
]}

Lawrence, Charles ^{[43
]}

Hutchinson, Amy ^{[8
]}

Zhi, Degui ^{[44
]}

Habermann, Thomas M. ^{[45
]}

Link, Brian K. ^{[46
]}

Novak, Anne J. ^{[45
]}

Dogan, Ahmet ^{[47
]}

Asmann, Yan W. ^{[48
]}

Liebow, Mark ^{[45
]}

Thompson, Carrie A. ^{[45
]}

Ansell, Stephen M. ^{[45
]}

Witzig, Thomas E. ^{[45
]}

Weiner, George J. ^{[46
]}

Veron, Amelie S. ^{[15
]}

Zelenika, Diana ^{[49
]}

Tilly, Herve ^{[50
]}

Haioun, Corinne ^{[51
]}

机构：

[1] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA

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

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

[4] Ctr Leon Berard, Dept Hematol, F-69373 Lyon, France

[5] CNRS, UMR 5239, Lab Biol Mol Cellule, Pierre Benite, France

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

[7] City Hope Beckman Res Inst, Dept Canc Etiol, Duarte, CA USA

[8] NCI, Div Canc Epidemiol & Genet, Canc Genom Res Lab, Gaithersburg, MD USA

[9] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35294 USA

[10] Univ Alabama Birmingham, Ctr Comprehens Canc, Birmingham, AL 35294 USA

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

[12] Univ Med Ctr Utrecht, Dept Med Genet & Epidemiol, Utrecht, Netherlands

[13] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands

[14] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany

[15] Ctr Leon Berard, Canc Res Ctr Lyon, F-69373 Lyon, France

[16] INSERM, Ctr Res Epidemiol & Populat Hlth CESP, Environm Epidemiol Canc Grp, Villejuif, France

[17] Univ Paris 11, UMRS 1018, Villejuif, France

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

[19] Emory Univ, Sch Med, Winship Canc Inst, Atlanta, GA USA

[20] Drexel Univ, Sch Publ Hlth, Dept Environm & Occupat Hlth, Philadelphia, PA 19104 USA

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

[22] British Columbia Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 4E6, Canada

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

[24] Human Genet Fdn, Turin, Italy

[25] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia

[26] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia

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

[28] Stanford Univ, Sch Med, Dept Med, Stanford, CA USA

[29] Univ Texas Houston, MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA

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

[31] Univ York, Dept Hlth Sci, York YO10 5DD, N Yorkshire, England

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

[33] Univ New S Wales, Prince Wales Clin Sch, Sydney, NSW, Australia

[34] British Columbia Canc Agcy, Canc Control Res, Vancouver, BC V5Z 4E6, Canada

[35] Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC V5Z 1M9, Canada

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

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

[38] Univ Cagliari, Dept Biomed Sci, Monserrato, Italy

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

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

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

[42] NYU, Sch Med, Inst Canc, New York, NY USA

[43] Westat Corp, Hlth Studies Sector, Rockville, MD USA

[44] Univ Alabama Birmingham, Dept Biostat, Birmingham, AL 35294 USA

[45] Mayo Clin, Dept Med, Rochester, MN USA

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

[47] Mem Sloan Kettering Canc Ctr, Dept Lab Med & Pathol, New York, NY 10021 USA

[48] Mayo Clin, Div Biomed Stat & Informat, Jacksonville, FL 32224 USA

[49] Ctr Natl Genotypage, Evry, France

[50] Ctr Henri Becquerel, F-76038 Rouen, France

来源：

NATURE GENETICS | 2014年 / 46卷 / 11期

基金：

美国国家卫生研究院;

关键词：

NON-HODGKIN-LYMPHOMA; CHRONIC LYMPHOCYTIC-LEUKEMIA; NECROSIS-FACTOR TNF; FOLLICULAR LYMPHOMA; COMMON VARIANTS; RAL GTPASES; RISK; CANCER; TUMORIGENESIS; POPULATION;

D O I：

10.1038/ng.3105

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 x 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 x 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 x 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 x 10(-13) and 3.63 x 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.

引用

页码：1233 / 1238

页数：6

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