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

被引：74
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.
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页数：10
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共 77 条
  • [1] Neu1 Sialidase and Matrix Metalloproteinase-9 Cross-talk Is Essential for Toll-like Receptor Activation and Cellular Signaling
    Abdulkhalek, Samar
    Amith, Schammim Ray
    Franchuk, Susan L.
    Jayanth, Preethi
    Guo, Merry
    Finlay, Trisha
    Gilmour, Alanna
    Guzzo, Christina
    Gee, Katrina
    Beyaert, Rudi
    Szewczuk, Myron R.
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (42) : 36532 - 36549
  • [2] A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
    Al Olama, Ali Amin
    Kote-Jarai, Zsofia
    Berndt, Sonja I.
    Conti, David V.
    Schumacher, Fredrick
    Han, Ying
    Benlloch, Sara
    Hazelett, Dennis J.
    Wang, Zhaoming
    Saunders, Ed
    Leongamornlert, Daniel
    Lindstrom, Sara
    Jugurnauth-Little, Sara
    Dadaev, Tokhir
    Tymrakiewicz, Malgorzata
    Stram, Daniel O.
    Rand, Kristin
    Wan, Peggy
    Stram, Alex
    Sheng, Xin
    Pooler, Loreall C.
    Park, Karen
    Xia, Lucy
    Tyrer, Jonathan
    Kolonel, Laurence N.
    Le Marchand, Loic
    Hoover, Robert N.
    Machiela, Mitchell J.
    Yeager, Merideth
    Burdette, Laurie
    Chung, Charles C.
    Hutchinson, Amy
    Yu, Kai
    Goh, Chee
    Ahmed, Mahbubl
    Govindasami, Koveela
    Guy, Michelle
    Tammela, Teuvo L. J.
    Auvinen, Anssi
    Wahlfors, Tlina
    Schleutker, Johanna
    Visakorpi, Tapio
    Leinonen, Katri A.
    Xu, Jianfeng
    Aly, Markus
    Donovan, Jenny
    Travis, Ruth C.
    Key, Tim J.
    Siddiq, Afshan
    Canzian, Federico
    [J]. NATURE GENETICS, 2014, 46 (10) : 1103 - 1109
  • [3] A map of human genome variation from population-scale sequencing
    Altshuler, David
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Collins, Francis S.
    De la Vega, Francisco M.
    Donnelly, Peter
    Egholm, Michael
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Knoppers, Bartha M.
    Lander, Eric S.
    Lehrach, Hans
    Mardis, Elaine R.
    McVean, Gil A.
    Nickerson, DebbieA.
    Peltonen, Leena
    Schafer, Alan J.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Deiros, David
    Metzker, Mike
    Muzny, Donna
    Reid, Jeff
    Wheeler, David
    Wang, Jun
    Li, Jingxiang
    Jian, Min
    Li, Guoqing
    Li, Ruiqiang
    Liang, Huiqing
    Tian, Geng
    Wang, Bo
    Wang, Jian
    Wang, Wei
    Yang, Huanming
    Zhang, Xiuqing
    Zheng, Huisong
    Lander, Eric S.
    Altshuler, David L.
    Ambrogio, Lauren
    Bloom, Toby
    Cibulskis, Kristian
    Fennell, Tim J.
    Gabriel, Stacey B.
    [J]. NATURE, 2010, 467 (7319) : 1061 - 1073
  • [4] Telomere length and risk of melanoma, squamous cell carcinoma, and basal cell carcinoma
    Anic, Gabriella M.
    Sondak, Vernon K.
    Messina, Jane L.
    Fenske, Neil A.
    Zager, Jonathan S.
    Cherpelis, Basil S.
    Lee, Ji-Hyun
    Fulp, William J.
    Epling-Burnette, Pearlie K.
    Park, Jong Y.
    Rollison, Dana E.
    [J]. CANCER EPIDEMIOLOGY, 2013, 37 (04) : 434 - 439
  • [5] [Anonymous], 2014, ANCESTRY COMPOSITION
  • [6] Role of the elastin receptor complex (S-Gal/Cath-A/Neu-1) in skin repair and regeneration
    Antonicelli, Frank
    Bellon, Georges
    Lorimier, Sandrine
    Hornebeck, William
    [J]. WOUND REPAIR AND REGENERATION, 2009, 17 (05) : 631 - 638
  • [7] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
    Ardlie, Kristin G.
    DeLuca, David S.
    Segre, Ayellet V.
    Sullivan, Timothy J.
    Young, Taylor R.
    Gelfand, Ellen T.
    Trowbridge, Casandra A.
    Maller, Julian B.
    Tukiainen, Taru
    Lek, Monkol
    Ward, Lucas D.
    Kheradpour, Pouya
    Iriarte, Benjamin
    Meng, Yan
    Palmer, Cameron D.
    Esko, Tonu
    Winckler, Wendy
    Hirschhorn, Joel N.
    Kellis, Manolis
    MacArthur, Daniel G.
    Getz, Gad
    Shabalin, Andrey A.
    Li, Gen
    Zhou, Yi-Hui
    Nobel, Andrew B.
    Rusyn, Ivan
    Wright, Fred A.
    Lappalainen, Tuuli
    Ferreira, Pedro G.
    Ongen, Halit
    Rivas, Manuel A.
    Battle, Alexis
    Mostafavi, Sara
    Monlong, Jean
    Sammeth, Michael
    Mele, Marta
    Reverter, Ferran
    Goldmann, Jakob M.
    Koller, Daphne
    Guigo, Roderic
    McCarthy, Mark I.
    Dermitzakis, Emmanouil T.
    Gamazon, Eric R.
    Im, Hae Kyung
    Konkashbaev, Anuar
    Nicolae, Dan L.
    Cox, Nancy J.
    Flutre, Timothee
    Wen, Xiaoquan
    Stephens, Matthew
    [J]. SCIENCE, 2015, 348 (6235) : 648 - 660
  • [8] Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype
    Berlin, Nicholas L.
    Cartmel, Brenda
    Leffell, David J.
    Bale, Allen E.
    Mayne, Susan T.
    Ferrucci, Leah M.
    [J]. CANCER EPIDEMIOLOGY, 2015, 39 (06) : 1078 - 1083
  • [9] Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    Browning, Sharon R.
    Browning, Brian L.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (05) : 1084 - 1097
  • [10] Purification and analysis of TIP47 function in Rab9-dependent mannose 6-phosphate receptor trafficking
    Burguete, AS
    Sivars, U
    Pfeffer, S
    [J]. GTPASES REGULATING MEMBRANE TARGETING AND FUSION, 2005, 403 : 357 - 366
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