Genome-wide association study identifies three loci associated with melanoma risk

被引：338

作者：

Bishop, D. Timothy ^{[1
]}

Demenais, Florence ^{[2
]}

Iles, Mark M. ^{[1
]}

Harland, Mark ^{[1
]}

Taylor, John C. ^{[1
]}

Corda, Eve ^{[2
]}

Randerson-Moor, Juliette ^{[1
]}

Aitken, Joanne F. ^{[3
]}

Avril, Marie-Francoise ^{[4
]}

Azizi, Esther ^{[5
]}

Bakker, Bert ^{[6
]}

Bianchi-Scarra, Giovanna ^{[7
]}

Bressac-de Paillerets, Brigitte ^{[8
]}

Calista, Donato ^{[9
]}

Cannon-Albright, Lisa A. ^{[10
]}

Chin-A-Woeng, Thomas ^{[11
]}

Debniak, Tadeusz ^{[12
]}

Galore-Haskel, Gilli ^{[5
]}

Ghiorzo, Paola ^{[7
]}

Gut, Ivo ^{[13
]}

Hansson, Johan ^{[14
]}

Hocevar, Marko ^{[15
]}

Hoiom, Veronica ^{[14
]}

Hopper, John L. ^{[16
]}

Ingvar, Christian ^{[17
]}

Kanetsky, Peter A. ^{[18
]}

Kefford, Richard F. ^{[19
,20
]}

Landi, Maria Teresa ^{[21
]}

Lang, Julie ^{[22
]}

Lubinski, Jan ^{[12
]}

Mackie, Rona ^{[22
,23
]}

Malvehy, Josep ^{[24
,25
]}

Mann, Graham J. ^{[19
,20
]}

Martin, Nicholas G. ^{[26
]}

Montgomery, Grant W. ^{[26
]}

van Nieuwpoort, Frans A. ^{[27
]}

Novakovic, Srdjan ^{[15
]}

Olsson, Hakan ^{[17
]}

Puig, Susana ^{[24
,25
]}

Weiss, Marjan ^{[6
]}

van Workum, Wilbert ^{[11
]}

Zelenika, Diana ^{[13
]}

Brown, Kevin M. ^{[28
]}

Goldstein, Alisa M. ^{[21
]}

Gillanders, Elizabeth M. ^{[29
]}

Boland, Anne ^{[13
]}

Galan, Pilar ^{[30
]}

Elder, David E. ^{[31
]}

Gruis, Nelleke A. ^{[27
]}

Hayward, Nicholas K. ^{[26
]}

机构：

[1] St James Univ Hosp, Epidemiol & Biostat Sect, Leeds Inst Mol Med, Canc Res UK Clin Ctr Leeds, Leeds LS9 7TF, W Yorkshire, England

[2] Fdn Jean Dausset CEPH, INSERM, U946, F-75010 Paris, France

[3] Canc Council, Viertel Ctr Res Canc Control, Brisbane, Qld, Australia

[4] Hop Cochin, AP HP, Fac Paris 5, Serv Dermatol, F-75674 Paris, France

[5] Tel Aviv Univ, Sackler Fac Med, Sheba Med Ctr, Dept Dermatol, IL-52621 Tel Hashomer, Israel

[6] Leiden Univ, Dept Clin Genet, Ctr Human & Clin Genet, Med Ctr, Leiden, Netherlands

[7] Univ Genoa, Dept Oncol Biol & Genet, Genoa, Italy

[8] CNRS, Inst Canc Gustave Roussy, Serv Genet, FRE 2939, Villejuif, France

[9] Maurizio Bufalini Hosp, Dermatol Unit, Cesena, Italy

[10] Univ Utah, Salt Lake City, UT USA

[11] ServiceXS, NL-2333 BZ Leiden, Netherlands

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

[13] Ctr Natl Genotypage, Inst Genom, Commissariat Energie Atorn, Evry, France

[14] Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden

[15] Inst Oncol Ljubljana, Ljubljana, Slovenia

[16] Univ Melbourne, Sch Populat Hlth, Ctr Mol Environm Genet & Analyt MEGA Epidemiol, Melbourne, Vic 3010, Australia

[17] Univ Lund Hosp, Dept Oncol, S-22185 Lund, Sweden

[18] Univ Penn, Dept Biostat & Epidemiol, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA

[19] Univ Sydney, Westmead Inst Canc Res, Westmead Millennium Inst, Westmead, NSW 2145, Australia

[20] Melanoma Inst Australia, Westmead, NSW, Australia

[21] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA

[22] Univ Glasgow, Dept Med Genet, Glasgow G12 8QQ, Lanark, Scotland

[23] Univ Glasgow, Dept Publ Hlth & Hlth Policy, Glasgow G12 8QQ, Lanark, Scotland

[24] Hosp Clin Barcelona, Melanoma Unit, Dept Dermatol, IDIBAPS, E-08036 Barcelona, Spain

[25] CIBER Enfermedades Raras, Barcelona, Spain

[26] Queensland Inst Med Res, Herston, Qld 4006, Australia

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

[28] Translat Genom Res Inst, Melanoma Genom Lab, Phoenix, AZ USA

[29] NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD USA

[30] CRNH Idf, INSERM, INRA, CNAM,UMR U557,U1125, Bobigny, France

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

来源：

NATURE GENETICS | 2009年 / 41卷 / 08期

基金：

英国惠康基金;

关键词：

CUTANEOUS MALIGNANT-MELANOMA; SUN EXPOSURE; PHENOTYPIC CHARACTERISTICS; FAMILY-HISTORY; MC1R VARIANTS; CDKN2A; GENES; MUTATIONS; WOMEN; SUSCEPTIBILITY;

D O I：

10.1038/ng.411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.

引用

页码：920 / U85

页数：9

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