Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma

被引：76

作者：

Chahal, Harvind S. ^{[1
]}

Wu, Wenting ^{[2
]}

Ransohoff, Katherine J. ^{[1
]}

Yang, Lingyao ^{[3
]}

Hedlin, Haley ^{[3
]}

Desai, Manisha ^{[3
]}

Lin, Yuan ^{[2
]}

Dai, Hong-Ji ^{[2
,4
,5
]}

Qureshi, Abrar A. ^{[6
,7
,8
]}

Li, Wen-Qing ^{[6
,7
]}

Kraft, Peter ^{[9
,10
]}

Hinds, David A. ^{[11
]}

Tang, Jean Y. ^{[1
]}

Han, Jiali ^{[2
,4
,5
,9
]}

Sarin, Kavita Y. ^{[1
]}

机构：

[1] Stanford Univ, Dept Dermatol, Sch Med, Stanford, CA 94305 USA

[2] Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Melvin & Bren Simon Canc Ctr, Indianapolis, IN 46202 USA

[3] Stanford Univ, Sch Med, Dept Med, Quantitat Sci Unit, Stanford, CA 94305 USA

[4] Tianjin Med Univ Canc Hosp & Inst, Natl Clin Res Ctr Canc, Dept Epidemiol & Biostat, Tianjin, Peoples R China

[5] Key Lab Canc Prevent & Therapy, Tianjin, Peoples R China

[6] Brown Univ, Dept Dermatol, Warren Alpert Med Sch, Providence, RI 02903 USA

[7] Brown Univ, Sch Publ Hlth, Dept Epidemiol, Providence, RI 02903 USA

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

[9] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[10] Harvard TH Chan Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[11] 23andMe Inc, Mountain View, CA 94040 USA

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

美国国家卫生研究院;

关键词：

SUSCEPTIBILITY LOCI; GENE-EXPRESSION; TRANSCRIPTION FACTORS; MALIGNANT-MELANOMA; TUMOR PROGRESSION; SEQUENCE VARIANTS; PROSTATE-CANCER; SKIN-CANCER; CLASS-I; METAANALYSIS;

D O I：

10.1038/ncomms12510

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：

Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 x 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC.

引用

页数：10

共 77 条

[41] The CASC15 Long Intergenic Noncoding RNA Locus Is Involved in Melanoma Progression and Phenotype Switching [J].

Lessard, Laurent ;

Liu, Michelle ;

Marzese, Diego M. ;

Wang, Hongwei ;

Chong, Kelly ;

Kawas, Neal ;

Donovan, Nicholas C. ;

Kiyohara, Eiji ;

Hsu, Sandy ;

Nelson, Nellie ;

Izraely, Sivan ;

Sagi-Assif, Orit ;

Witz, Isaac P. ;

Ma, Xiao-Jun ;

Luo, Yuling ;

Hoon, Dave S. B. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 (10) :2464-2474

[42] A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus [J].

Levine, David M. ;

Ek, Weronica E. ;

Zhang, Rui ;

Liu, Xinxue ;

Onstad, Lynn ;

Sather, Cassandra ;

Lao-Sirieix, Pierre ;

Gammon, Marilie D. ;

Corley, Douglas A. ;

Shaheen, Nicholas J. ;

Bird, Nigel C. ;

Hardie, Laura J. ;

Murray, Liam J. ;

Reid, Brian J. ;

Chow, Wong-Ho ;

Risch, Harvey A. ;

Nyren, Olof ;

Ye, Weimin ;

Liu, Geoffrey ;

Romero, Yvonne ;

Bernstein, Leslie ;

Wu, Anna H. ;

Casson, Alan G. ;

Chanock, Stephen J. ;

Harrington, Patricia ;

Caldas, Isabel ;

Debiram-Beecham, Irene ;

Caldas, Carlos ;

Hayward, Nicholas K. ;

Pharoah, Paul D. ;

Fitzgerald, Rebecca C. ;

MacGregor, Stuart ;

Whiteman, David C. ;

Vaughan, Thomas L. .

NATURE GENETICS, 2013, 45 (12) :1487-U119

[43] Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology [J].

Levy, Daniel ;

Neuhausen, Susan L. ;

Hunt, Steven C. ;

Kimura, Masayuki ;

Hwang, Shih-Jen ;

Chen, Wei ;

Bis, Joshua C. ;

Fitzpatrick, Annette L. ;

Smith, Erin ;

Johnson, Andrew D. ;

Gardner, Jeffrey P. ;

Srinivasan, Sathanur R. ;

Schork, Nicholas ;

Rotter, Jerome I. ;

Herbig, Utz ;

Psaty, Bruce M. ;

Sastrasinh, Malinee ;

Murray, Sarah S. ;

Vasan, Ramachandran S. ;

Province, Michael A. ;

Glazer, Nicole L. ;

Lu, Xiaobin ;

Cao, Xiaojian ;

Kronmal, Richard ;

Mangino, Massimo ;

Soranzo, Nicole ;

Spector, Tim D. ;

Berenson, Gerald S. ;

Aviv, Abraham .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (20) :9293-9298

[44] Pleiotropic modes of action in tumor cells of RNASET2, an evolutionary highly conserved extracellular RNase [J].

Lualdi, Marta ;

Pedrini, Edoardo ;

Rea, Katia ;

Monti, Laura ;

Scaldaferri, Debora ;

Gariboldi, Marzia ;

Camporeale, Annalisa ;

Ghia, Paolo ;

Monti, Elena ;

Tomassetti, Antonella ;

Acquati, Francesco ;

Taramelli, Roberto .

ONCOTARGET, 2015, 6 (10) :7851-7865

[45] Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans [J].

Mangino, Massimo ;

Hwang, Shih-Jen ;

Spector, Timothy D. ;

Hunt, Steven C. ;

Kimura, Masayuki ;

Fitzpatrick, Annette L. ;

Christiansen, Lene ;

Petersen, Inge ;

Elbers, Clara C. ;

Harris, Tamara ;

Chen, Wei ;

Srinivasan, Sathanur R. ;

Kark, Jeremy D. ;

Benetos, Athanase ;

El Shamieh, Said ;

Visvikis-Siest, Sophie ;

Christensen, Kaare ;

Berenson, Gerald S. ;

Valdes, Ana M. ;

Vinuela, Ana ;

Garcia, Melissa ;

Arnett, Donna K. ;

Broeckel, Ulrich ;

Province, Michael A. ;

Pankow, James S. ;

Kammerer, Candace ;

Liu, Yongmei ;

Nalls, Michael ;

Tishkoff, Sarah ;

Thomas, Fridtjof ;

Ziv, Elad ;

Psaty, Bruce M. ;

Bis, Joshua C. ;

Rotter, Jerome I. ;

Taylor, Kent D. ;

Smith, Erin ;

Schork, Nicholas J. ;

Levy, Daniel ;

Aviv, Abraham .

HUMAN MOLECULAR GENETICS, 2012, 21 (24) :5385-5394

[46] Characterization of HLA class I altered phenotypes in a panel of human melanoma cell lines [J].

Mendez, Rosa ;

Rodriguez, Teresa ;

Del Campo, Ana ;

Monge, Eva ;

Maleno, Isabel ;

Aptsiauri, Natalia ;

Jimenez, Pilar ;

Pedrinaci, Susana ;

Pawelec, Graham ;

Ruiz-Cabello, Francisco ;

Garrido, Federico .

CANCER IMMUNOLOGY IMMUNOTHERAPY, 2008, 57 (05) :719-729

[47] HLA and melanoma: multiple alterations in HLA class I and II expression in human melanoma cell lines from ESTDAB cell bank [J].

Mendez, Rosa ;

Aptsiauri, Natalia ;

Del Campo, Ana ;

Maleno, Isabel ;

Cabrera, Teresa ;

Ruiz-Cabello, Francisco ;

Garrido, Federico ;

Garcia-Lora, Angel .

CANCER IMMUNOLOGY IMMUNOTHERAPY, 2009, 58 (09) :1507-1515

[48] RNASET2 as a tumor antagonizing gene in a melanoma cancer model [J].

Monti, Laura ;

Rudolfo, Monica ;

Lo Russo, Girieca ;

Noonan, Douglas ;

Acquati, Francesco ;

Taramelli, Roberto .

ONCOLOGY RESEARCH, 2008, 17 (02) :69-74

[49] A User's Guide to the Encyclopedia of DNA Elements (ENCODE) [J].

Myers, Richard M. ;

Stamatoyannopoulos, John ;

Snyder, Michael ;

Dunham, Ian ;

Hardison, Ross C. ;

Bernstein, Bradley E. ;

Gingeras, Thomas R. ;

Kent, W. James ;

Birney, Ewan ;

Wold, Barbara ;

Crawford, Gregory E. ;

Bernstein, Bradley E. ;

Epstein, Charles B. ;

Shoresh, Noam ;

Ernst, Jason ;

Mikkelsen, Tarjei S. ;

Kheradpour, Pouya ;

Zhang, Xiaolan ;

Wang, Li ;

Issner, Robbyn ;

Coyne, Michael J. ;

Durham, Timothy ;

Ku, Manching ;

Thanh Truong ;

Ward, Lucas D. ;

Altshuler, Robert C. ;

Lin, Michael F. ;

Kellis, Manolis ;

Gingeras, Thomas R. ;

Davis, Carrie A. ;

Kapranov, Philipp ;

Dobin, Alexander ;

Zaleski, Christopher ;

Schlesinger, Felix ;

Batut, Philippe ;

Chakrabortty, Sudipto ;

Jha, Sonali ;

Lin, Wei ;

Drenkow, Jorg ;

Wang, Huaien ;

Bell, Kim ;

Gao, Hui ;

Bell, Ian ;

Dumais, Erica ;

Dumais, Jacqueline ;

Antonarakis, Stylianos E. ;

Ucla, Catherine ;

Borel, Christelle ;

Guigo, Roderic ;

Djebali, Sarah .

PLOS BIOLOGY, 2011, 9 (04)

[50] Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma [J].

Nan, Hongmei ;

Xu, Mousheng ;

Kraft, Peter ;

Qureshi, Abrar A. ;

Chen, Constance ;

Guo, Qun ;

Hu, Frank B. ;

Curhan, Gary ;

Amos, Christopher I. ;

Wang, Li-E. ;

Lee, Jeffrey E. ;

Wei, Qingyi ;

Hunter, David J. ;

Han, Jiali .

HUMAN MOLECULAR GENETICS, 2011, 20 (18) :3718-3724

← 1 2 3 4 5 6 7 8 →