Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

被引：188

作者：

Law, Matthew H. ^{[1
]}

Bishop, D. Timothy ^{[2
]}

Lee, Jeffrey E. ^{[3
]}

Brossard, Myriam ^{[4
,5
]}

Martin, Nicholas G. ^{[6
]}

Moses, Eric K. ^{[7
]}

Song, Fengju ^{[8
]}

Barrett, Jennifer H. ^{[2
]}

Kumar, Rajiv ^{[9
]}

Easton, Douglas F. ^{[10
]}

Pharoah, Paul D. P. ^{[11
]}

Swerdlow, Anthony J. ^{[12
,13
]}

Kypreou, Katerina P. ^{[14
]}

Taylor, John C. ^{[2
]}

Harland, Mark ^{[2
]}

Randerson-Moor, Juliette ^{[2
]}

Akslen, Lars A. ^{[15
,16
]}

Andresen, Per A. ^{[17
]}

Avril, Marie-Franoise ^{[18
]}

Azizi, Esther ^{[19
,20
,21
]}

Scarra, Giovanna Bianchi ^{[22
,23
]}

Brown, Kevin M. ^{[24
]}

Debniak, Tadeusz ^{[25
]}

Duffy, David L. ^{[6
]}

Elder, David E. ^{[26
]}

Fang, Shenying ^{[3
]}

Friedman, Eitan ^{[20
,21
]}

Galan, Pilar ^{[27
]}

Ghiorzo, Paola ^{[22
,23
]}

Gillanders, Elizabeth M. ^{[28
]}

Goldstein, Alisa M. ^{[24
]}

Gruis, Nelleke A. ^{[29
]}

Hansson, Johan ^{[30
]}

Helsing, Per ^{[31
]}

Hocevar, Marko ^{[32
]}

Hoeiom, Veronica ^{[30
]}

Ingvar, Christian ^{[33
]}

Kanetsky, Peter A. ^{[34
]}

Chen, Wei V. ^{[35
]}

Landi, Maria Teresa ^{[24
]}

Lang, Julie ^{[36
]}

Lathrop, G. Mark ^{[37
]}

Lubinski, Jan ^{[25
]}

Mackie, Rona M. ^{[36
,38
]}

Mann, Graham J. ^{[39
,40
]}

Molven, Anders ^{[16
,41
]}

Montgomery, Grant W. ^{[42
]}

Novakovic, Srdjan ^{[43
]}

Olsson, Hakan ^{[44
,45
]}

Puig, Susana ^{[46
,47
,48
,49
]}

机构：

[1] QIMR Berghofer Med Res Inst, Stat Genet, Brisbane, Qld, Australia

[2] Univ Leeds, Leeds Inst Canc & Pathol, Sect Epidemiol & Biostat, Leeds, W Yorkshire, England

[3] Univ Texas MD Anderson Canc Ctr, Dept Surg Oncol, Houston, TX 77030 USA

[4] INSERM, Genet Variat & Human Dis Unit, UMR 946, Paris, France

[5] Univ Paris Diderot, Sorbonne Paris Cite, Inst Univ Hematol, Paris, France

[6] QIMR Berghofer Med Res Inst, Genet Epidemiol, Brisbane, Qld, Australia

[7] Univ Western Australia, Fac Med Dent & Hlth Sci, Ctr Genet Origins Hlth & Dis, Perth, WA 6009, Australia

[8] Tianjin Med Univ, Dept Epidemiol & Biostat, Key Lab Canc Prevent & Therapy, Natl Clin Res Ctr Canc,Canc Inst & Hosp, Tianjin, Peoples R China

[9] German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany

[10] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[11] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England

[12] Inst Canc Res, Div Genet & Epidemiol, London SW3 6JB, England

[13] Inst Canc Res, Div Breast Canc Res, London SW3 6JB, England

[14] Univ Athens, Sch Med, Andreas Sygros Hosp, Dept Dermatol, GR-11527 Athens, Greece

[15] Univ Bergen, Dept Clin Med, Ctr Canc Biomarkers CCBIO, Bergen, Norway

[16] Haukeland Hosp, Dept Pathol, N-5021 Bergen, Norway

[17] Univ Oslo, Rikshosp, Oslo Univ Hosp, Dept Pathol,Mol Pathol, N-0027 Oslo, Norway

[18] Univ Paris 05, AP HP, Hop Cochin, Serv Dermatol, Paris, France

[19] Sheba Med Ctr, Dept Dermatol, Tel Hashomer, Israel

[20] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[21] Sheba Med Ctr, Oncogenet Unit, Tel Hashomer, Israel

[22] Univ Genoa, Dept Internal Med & Med Specialties, Genoa, Italy

[23] Azienda Osped Univ IRCCS AOU, Lab Genet Rare Canc, Ist Ricovero & Cura Carattere Sci, San Martino Ist Sci Tumori,Ist Nazl Ricerca Cancr, Genoa, Italy

[24] NCI, Div Canc Epidemiol & Genet, US Natl Inst Hlth, Bethesda, MD 20892 USA

[25] Pomeranian Med Univ, Int Hereditary Canc Ctr, Szczecin, Poland

[26] Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA

[27] Univ Paris 13, Ctr Rech Epidemiol & Stat, Communaute Univ Sorbonne Paris Cite,U1153, Conservatoire Natl Arts & Metiers,INSERM,EREN,U11, Bobigny, France

[28] NHGRI, Inherited Dis Res Branch, US Natl Inst Hlth, Baltimore, MD USA

[29] Leiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands

[30] Karolinska Univ Hosp, Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden

[31] Univ Oslo, Rikshosp, Dept Dermatol, Oslo Univ Hosp, N-0027 Oslo, Norway

[32] Inst Oncol Ljubljana, Dept Surg Oncol, Ljubljana, Slovenia

[33] Lund Univ, Clin Sci, Dept Surg, Lund, Sweden

[34] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA

[35] Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USA

[36] Univ Glasgow, Dept Med Genet, Glasgow, Lanark, Scotland

[37] McGill Univ, Genome Quebec Innovat Ctr, Montreal, PQ, Canada

[38] Univ Glasgow, Dept Publ Hlth, Glasgow, Lanark, Scotland

[39] Univ Sydney Westmead, Ctr Canc Res, Millennium Inst Med Res, Sydney, NSW, Australia

[40] Melanoma Inst Australia, Sydney, NSW, Australia

[41] Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway

[42] QIMR Berghofer Med Res Inst, Mol Epidemiol, Brisbane, Qld, Australia

[43] Inst Oncol Ljubljana, Dept Mol Diagnost, Ljubljana, Slovenia

[44] Lund Univ, Clin Sci, Dept Oncol Pathol, Lund, Sweden

[45] Lund Univ, Clin Sci, Dept Canc Epidemiol, Lund, Sweden

[46] Univ Barcelona, Dept Dermatol, Melanoma Unit, Barcelona, Spain

[47] Univ Barcelona, Dept Biochem, Hosp Clin, Inst Invest Biomed August Pi Sune, Barcelona, Spain

[48] Univ Barcelona, Dept Mol Genet, Hosp Clin, Inst Invest Biomed August Pi Sune, Barcelona, Spain

[49] Inst Salud Carlos III, Ctr Invest Biomed Red CIBER Enfermedades Raras, Barcelona, Spain

[50] Brown Univ, Warren Alpert Med Sch, Dept Dermatol, Providence, RI 02912 USA

来源：

NATURE GENETICS | 2015年 / 47卷 / 09期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

MEAN TELOMERE LENGTH; PHENOTYPIC CHARACTERISTICS; GENOTYPE IMPUTATION; SEQUENCE VARIANTS; FIELD SYNOPSIS; RISK-FACTORS; CANCER-RISK; ASSOCIATION; PIGMENTATION; PROTEIN;

D O I：

10.1038/ng.3373

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 x 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

引用

页码：987 / +

页数：12

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