Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

被引：85

作者：

Berndt, Sonja I. ^{[1
]}

Camp, Nicola J. ^{[2
,3
]}

Skibola, Christine F. ^{[4
,5
,6
]}

Vijai, Joseph ^{[7
]}

Wang, Zhaoming ^{[8
]}

Gu, Jian ^{[9
]}

Nieters, Alexandra ^{[10
]}

Kelly, Rachel S. ^{[11
,12
]}

Smedby, Karin E. ^{[13
]}

Monnereau, Alain ^{[14
,15
,16
]}

Cozen, Wendy ^{[17
,18
]}

Cox, Angela ^{[19
]}

Wang, Sophia S. ^{[20
]}

Lan, Qing ^{[1
]}

Teras, Lauren R. ^{[21
]}

Machado, Moara ^{[1
,22
]}

Yeager, Meredith ^{[8
]}

Brooks-Wilson, Angela R. ^{[23
,24
]}

Hartge, Patricia ^{[1
]}

Purdue, Mark P. ^{[25
]}

Birmann, Brenda M. ^{[26
,27
]}

Vajdic, Claire M. ^{[28
]}

Cocco, Pierluigi ^{[29
]}

Zhang, Yawei ^{[30
]}

Giles, Graham G. ^{[31
,32
]}

Zeleniuch-Jacquotte, Anne ^{[33
,34
,35
]}

Lawrence, Charles ^{[36
]}

Montalvan, Rebecca ^{[36
]}

Burdett, Laurie ^{[8
]}

Hutchinson, Amy ^{[8
]}

Ye, Yuanqing ^{[9
]}

Call, Timothy G. ^{[37
]}

Shanafelt, Tait D. ^{[38
]}

Novak, Anne J. ^{[38
]}

Kay, Neil E. ^{[37
]}

Liebow, Mark ^{[38
]}

Cunningham, Julie M. ^{[39
]}

Allmer, Cristine ^{[40
]}

Hjalgrim, Henrik ^{[41
]}

Adami, Hans-Olov ^{[11
,42
]}

Melbye, Mads ^{[41
,43
]}

Glimelius, Bengt ^{[44
]}

Chang, Ellen T. ^{[45
,46
]}

Glenn, Martha ^{[47
]}

Curtin, Karen ^{[48
]}

Cannon-Albright, Lisa A. ^{[48
,49
]}

Diver, W. Ryan ^{[21
]}

Link, Brian K. ^{[50
]}

Weiner, George J. ^{[50
]}

Conde, Lucia ^{[4
,5
,6
]}

机构：

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

[2] Huntsman Canc Inst, Dept Internal Med, Div Hematol & Hematol Malignancies, Salt Lake City, UT 84112 USA

[3] Univ Utah, Sch Med, Salt Lake City, UT 84112 USA

[4] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35233 USA

[5] Univ Alabama Birmingham, Ctr Comprehens Canc, Birmingham, AL 35233 USA

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

[7] Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10065 USA

[8] NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, Gaithersburg, MD 20877 USA

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

[10] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, D-79108 Freiburg, Baden Wurttembe, Germany

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

[12] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, London W2 1PG, England

[13] Karolinska Univ Hosp, Karolinska Inst, Dept Med, S-17176 Stockholm, Sweden

[14] Sorbonne Paris Cite CRESS, INSERM, Ctr Res Epidemiol & Stat, Epidemiol Childhood & Adolescent Canc Grp, F-94807 Paris, France

[15] Univ Paris 05, F-75270 Paris, France

[16] Inst Bergonie, Registre Hemopathies Malignes Gironde, F-33076 Bordeaux, France

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

[18] Univ So Calif, Keck Sch Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA

[19] Univ Sheffield, Dept Oncol, Sheffield S10 1NS, S Yorkshire, England

[20] City Hope Natl Med Ctr, Beckman Res Inst, Div Canc Etiol, Duarte, CA 91030 USA

[21] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30303 USA

[22] Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, BR-31270901 Belo Horizonte, MG, Brazil

[23] BC Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 1L3, Canada

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

[25] Ontario Hlth Study, Toronto, ON M5G 0A3, Canada

[26] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA

[27] Harvard Univ, Sch Med, Boston, MA 02115 USA

[28] Univ New S Wales, Ctr Big Data Res Hlth, Sydney, NSW 2052, Australia

[29] Univ Cagliari, Dept Publ Hlth Clin & Mol Med, I-09042 Cagliari, Italy

[30] Yale Univ, Sch Publ Hlth, Dept Environm Hlth Sci, New Haven, CT 06520 USA

[31] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic 3004, Australia

[32] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic 3010, Australia

[33] NYU, Sch Med, Dept Populat Hlth, New York, NY 10016 USA

[34] NYU, Sch Med, Dept Environm Med, New York, NY 10016 USA

[35] NYU, Langone Med Ctr, Perlmutter Canc Ctr, New York, NY 10016 USA

[36] WESTAT Corp, Rockville, MD 20850 USA

[37] Mayo Clin, Div Hematol, Rochester, MN 55905 USA

[38] Mayo Clin, Dept Med, Rochester, MN 55905 USA

[39] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

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

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

[42] Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden

[43] Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA

[44] Uppsala Univ, Dept Immunol Genet & Pathol, S-75105 Uppsala, Sweden

[45] Exponent Inc, Ctr Epidemiol & Computat Biol, Hlth Sci, Menlo Pk, CA 94025 USA

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

[47] Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT 84112 USA

[48] Univ Utah, Sch Med, Dept Internal Med, Salt Lake City, UT 84108 USA

[49] Vet Affairs Med Ctr, George E Wahlen Dept, Salt Lake City, UT 84148 USA

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

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

中国国家自然科学基金; 英国医学研究理事会; 澳大利亚国家健康与医学研究理事会; 美国国家卫生研究院;

关键词：

FAS GENE-MUTATIONS; SUSCEPTIBILITY LOCI; FOLLICULAR LYMPHOMA; COMMON VARIATION; RISK; VARIANTS; BANK1; PRIORITIZATION; CLASSIFICATION; IDENTIFICATION;

D O I：

10.1038/ncomms10933

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P = 2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P = 1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P = 3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P = 1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P<5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P = 7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P = 2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.

引用

页数：9

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