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Volumn 7, Issue , 2016, Pages

Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma

Author keywords

[No Author keywords available]

Indexed keywords

AHR PROTEIN; AROMATIC HYDROCARBON RECEPTOR; ASIP PROTEIN; BNC2 PROTEIN; CADM1 PROTEIN; INTERFERON REGULATORY FACTOR 4; MC1R PROTEIN; OCA2 PROTEIN; SEC16A PROTEIN; SLC45A2 PROTEIN; TUMOR MARKER; TUMOR SUPPRESSOR PROTEIN; TYR PROTEIN; UNCLASSIFIED DRUG; TUMOR PROTEIN;

EID: 84978843011     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12048     Document Type: Article
Times cited : (121)

References (51)
  • 1
    • 84921459209 scopus 로고    scopus 로고
    • Squamous cell carcinoma of the skin: Epidemiology, classification, management, and novel trends
    • Kallini J. R., Hamed N., & Khachemoune A. Squamous cell carcinoma of the skin: epidemiology, classification, management, and novel trends. Int. J. Dermatol. 54, 130-140 (2015).
    • (2015) Int. J. Dermatol. , vol.54 , pp. 130-140
    • Kallini, J.R.1    Hamed, N.2    Khachemoune, A.3
  • 2
    • 0035116287 scopus 로고    scopus 로고
    • Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma
    • Box N. F., et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J. Invest. Dermatol. 116, 224-229 (2001).
    • (2001) J. Invest. Dermatol. , vol.116 , pp. 224-229
    • Box, N.F.1
  • 3
    • 84978833055 scopus 로고    scopus 로고
    • Identification of susceptibility loci for cutaneous squamous cell carcinoma
    • Asgari M. M., et al. Identification of susceptibility loci for cutaneous squamous cell carcinoma. J. Invest. Dermatol. 116, 224-229 (2016).
    • (2016) J. Invest. Dermatol. , vol.116 , pp. 224-229
    • Asgari, M.M.1
  • 4
    • 68149170036 scopus 로고    scopus 로고
    • New common variants affecting susceptibility to basal cell carcinoma
    • Stacey S. N., et al. New common variants affecting susceptibility to basal cell carcinoma. Nat. Genet. 41, 909-914 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 909-914
    • Stacey, S.N.1
  • 5
    • 36549071998 scopus 로고    scopus 로고
    • Genetic determinants of hair, eye and skin pigmentation in Europeans
    • Sulem P., et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39, 1443-1452 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 1443-1452
    • Sulem, P.1
  • 6
    • 84930730324 scopus 로고    scopus 로고
    • IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color
    • Jacobs L. C., et al. IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color. Hum. Mol. Genet. 24, 3296-3303 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 3296-3303
    • Jacobs, L.C.1
  • 7
    • 84889578835 scopus 로고    scopus 로고
    • A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
    • Praetorius C., et al. A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell 155, 1022-1033 (2013).
    • (2013) Cell , vol.155 , pp. 1022-1033
    • Praetorius, C.1
  • 8
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward L. D., & Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40, D930-D934 (2012).
    • (2012) Nucleic Acids Res. , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 9
    • 45549097424 scopus 로고    scopus 로고
    • ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    • Gudbjartsson D. F., et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat. Genet. 40, 886-891 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 886-891
    • Gudbjartsson, D.F.1
  • 10
    • 84931564414 scopus 로고    scopus 로고
    • A genome-wide association study identifies the skin color genes IRF4, MC1R, ASIP, and BNC2 influencing facial pigmented spots
    • Jacobs L. C., et al. A genome-wide association study identifies the skin color genes IRF4, MC1R, ASIP, and BNC2 influencing facial pigmented spots. J. Invest. Dermatol. 135, 1735-1742 (2015).
    • (2015) J. Invest Dermatol. , vol.135 , pp. 1735-1742
    • Jacobs, L.C.1
  • 11
    • 51549094379 scopus 로고    scopus 로고
    • SLC45A2: A novel malignant melanoma-Associated gene
    • Fernandez L. P., et al. SLC45A2: a novel malignant melanoma-Associated gene. Hum. Mutat. 29, 1161-1167 (2008).
    • (2008) Hum. Mutat. , vol.29 , pp. 1161-1167
    • Fernandez, L.P.1
  • 12
    • 75549084094 scopus 로고    scopus 로고
    • Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    • Duffy D. L., et al. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J. Invest. Dermatol. 130, 520-528 (2010).
    • (2010) J. Invest. Dermatol. , vol.130 , pp. 520-528
    • Duffy, D.L.1
  • 13
    • 67650073375 scopus 로고    scopus 로고
    • Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
    • Nan H., Kraft P., Hunter D. J., & Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int. J. Cancer 125, 909-917 (2009).
    • (2009) Int. J. Cancer , vol.125 , pp. 909-917
    • Nan, H.1    Kraft, P.2    Hunter, D.J.3    Han, J.4
  • 14
    • 84911453998 scopus 로고    scopus 로고
    • Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene
    • Visser M., Palstra R. J., & Kayser M. Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene. Hum. Mol. Genet. 23, 5750-5762 (2014).
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 5750-5762
    • Visser, M.1    Palstra, R.J.2    Kayser, M.3
  • 15
    • 77954167176 scopus 로고    scopus 로고
    • Web-based, participant-driven studies yield novel genetic associations for common traits
    • Eriksson N., et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet. 6, e1000993 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000993
    • Eriksson, N.1
  • 16
    • 84930526040 scopus 로고    scopus 로고
    • Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis
    • O'Rielly D. D., et al. Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis. Ann. Rheum. Dis. 75, 772-779 (2016).
    • (2016) Ann. Rheum. Dis. , vol.75 , pp. 772-779
    • O'Rielly, D.D.1
  • 17
    • 84924733060 scopus 로고    scopus 로고
    • Regulation of Sec16 levels and dynamics links proliferation and secretion
    • Tillmann K. D., et al. Regulation of Sec16 levels and dynamics links proliferation and secretion. J. Cell Sci. 128, 670-682 (2015).
    • (2015) J. Cell Sci. , vol.128 , pp. 670-682
    • Tillmann, K.D.1
  • 18
    • 51649085884 scopus 로고    scopus 로고
    • Expression of TSLC1, A candidate tumor suppressor gene mapped to chromosome 11q23, is downregulated in unfavorable neuroblastoma without promoter hypermethylation
    • Ando K., et al. Expression of TSLC1, A candidate tumor suppressor gene mapped to chromosome 11q23, is downregulated in unfavorable neuroblastoma without promoter hypermethylation. Int. J. Cancer 123, 2087-2094 (2008).
    • (2008) Int. J. Cancer , vol.123 , pp. 2087-2094
    • Ando, K.1
  • 19
    • 27144524031 scopus 로고    scopus 로고
    • Involvement of a cell adhesion molecule, TSLC1/IGSF4, in human oncogenesis
    • Murakami Y. Involvement of a cell adhesion molecule, TSLC1/IGSF4, in human oncogenesis. Cancer Sci. 96, 543-552 (2005).
    • (2005) Cancer Sci. , vol.96 , pp. 543-552
    • Murakami, Y.1
  • 20
    • 85027932542 scopus 로고    scopus 로고
    • Tumor suppressor TSLC1 is implicated in cell proliferation, invasion and apoptosis in laryngeal squamous cell carcinoma by regulating Akt signaling pathway
    • Lu B., et al. Tumor suppressor TSLC1 is implicated in cell proliferation, invasion and apoptosis in laryngeal squamous cell carcinoma by regulating Akt signaling pathway. Tumour Biol. 33, 2007-2017 (2012).
    • (2012) Tumour Biol. , vol.33 , pp. 2007-2017
    • Lu, B.1
  • 21
    • 84925352632 scopus 로고    scopus 로고
    • IGSF4 methylation as an independent marker of human papillomavirus-positive oropharyngeal squamous cell carcinoma
    • Chen K. M., et al. IGSF4 methylation as an independent marker of human papillomavirus-positive oropharyngeal squamous cell carcinoma. JAMA Otolaryngol. Head Neck Surg. 141, 257-263 (2015).
    • (2015) JAMA Otolaryngol. Head Neck Surg. , vol.141 , pp. 257-263
    • Chen, K.M.1
  • 22
    • 84955654586 scopus 로고    scopus 로고
    • CADM1 and MAL methylation status in cervical scrapes is representative of the most severe underlying lesion in women with multiple cervical biopsies
    • van Baars R., et al. CADM1 and MAL methylation status in cervical scrapes is representative of the most severe underlying lesion in women with multiple cervical biopsies. Int. J. Cancer 138, 463-471 (2015).
    • (2015) Int. J. Cancer , vol.138 , pp. 463-471
    • Van Baars, R.1
  • 23
    • 84891486872 scopus 로고    scopus 로고
    • Tumor suppressor in lung cancer 1 (TSLC1), A novel tumor suppressor gene, is implicated in the regulation of proliferation, invasion, cell cycle, apoptosis, and tumorigenicity in cutaneous squamous cell carcinoma
    • Liu D., et al. Tumor suppressor in lung cancer 1 (TSLC1), A novel tumor suppressor gene, is implicated in the regulation of proliferation, invasion, cell cycle, apoptosis, and tumorigenicity in cutaneous squamous cell carcinoma. Tumour Biol. 34, 3773-3783 (2013).
    • (2013) Tumour Biol. , vol.34 , pp. 3773-3783
    • Liu, D.1
  • 24
    • 84883801695 scopus 로고    scopus 로고
    • Evidence for a novel anti-Apoptotic pathway in human keratinocytes involving the aryl hydrocarbon receptor, E2F1, and checkpoint kinase 1
    • Frauenstein K., et al. Evidence for a novel anti-Apoptotic pathway in human keratinocytes involving the aryl hydrocarbon receptor, E2F1, and checkpoint kinase 1. Cell Death Differ. 20, 1425-1434 (2013).
    • (2013) Cell Death Differ. , vol.20 , pp. 1425-1434
    • Frauenstein, K.1
  • 25
    • 84889072389 scopus 로고    scopus 로고
    • The dioxin receptor has tumor suppressor activity in melanoma growth and metastasis
    • Contador-Troca M., et al. The dioxin receptor has tumor suppressor activity in melanoma growth and metastasis. Carcinogenesis 34, 2683-2693 (2013).
    • (2013) Carcinogenesis , vol.34 , pp. 2683-2693
    • Contador-Troca, M.1
  • 26
    • 84879492780 scopus 로고    scopus 로고
    • Role of aryl hydrocarbon receptor in cancer
    • Feng S., Cao Z., & Wang X. Role of aryl hydrocarbon receptor in cancer. Biochim. Biophys. Acta 1836, 197-210 (2013).
    • (2013) Biochim. Biophys. Acta , vol.1836 , pp. 197-210
    • Feng, S.1    Cao, Z.2    Wang, X.3
  • 27
    • 84877831775 scopus 로고    scopus 로고
    • Cutaneous squamous cell carcinoma: Estimated incidence of disease, nodal metastasis, and deaths from disease in the United States, 2012
    • Karia P. S., Han J., & Schmults C. D. Cutaneous squamous cell carcinoma: estimated incidence of disease, nodal metastasis, and deaths from disease in the United States, 2012. J. Am. Acad. Dermatol. 68, 957-966 (2013).
    • (2013) J. Am. Acad. Dermatol. , vol.68 , pp. 957-966
    • Karia, P.S.1    Han, J.2    Schmults, C.D.3
  • 28
    • 44849109005 scopus 로고    scopus 로고
    • Comprehensive analysis of HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci and squamous cell cervical cancer risk
    • Madeleine M. M., et al. Comprehensive analysis of HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci and squamous cell cervical cancer risk. Cancer Res. 68, 3532-3539 (2008).
    • (2008) Cancer Res. , vol.68 , pp. 3532-3539
    • Madeleine, M.M.1
  • 29
    • 84881026639 scopus 로고    scopus 로고
    • A genome-wide association meta-Analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci
    • Hinds D. A., et al. A genome-wide association meta-Analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat. Genet. 45, 907-911 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 907-911
    • Hinds, D.A.1
  • 30
    • 45149108420 scopus 로고    scopus 로고
    • Mapping the genetic architecture of gene expression in human liver
    • Schadt E. E., et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 6, e107 (2008).
    • (2008) PLoS Biol. , vol.6 , pp. e107
    • Schadt, E.E.1
  • 32
    • 84859224334 scopus 로고    scopus 로고
    • Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples
    • Henn B. M., et al. Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples. PLoS ONE 7, e34267 (2012).
    • (2012) PLoS ONE , vol.7 , pp. e34267
    • Henn, B.M.1
  • 33
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from populationscale sequencing
    • Genomes Project C.et al.
    • Genomes Project C et al. A map of human genome variation from populationscale sequencing. Nature 467, 1061-1073 (2010).
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 34
    • 35348817330 scopus 로고    scopus 로고
    • Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    • Browning S. R., & Browning B. L. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81, 1084-1097 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 1084-1097
    • Browning, S.R.1    Browning, B.L.2
  • 36
    • 84952018532 scopus 로고    scopus 로고
    • A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
    • Jorgenson E., et al. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat. Commun. 6, 10130 (2015).
    • (2015) Nat. Commun. , vol.6 , pp. 10130
    • Jorgenson, E.1
  • 37
    • 84957582620 scopus 로고    scopus 로고
    • GWAS of 89, 283 individuals identifies genetic variants associated with self-reporting of being a morning person
    • Hu Y., et al. GWAS of 89, 283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat. Commun. 7, 10448 (2016).
    • (2016) Nat. Commun. , vol.7 , pp. 10448
    • Hu, Y.1
  • 38
    • 84881026639 scopus 로고    scopus 로고
    • A genome-wide association meta-Analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci
    • Hinds D. A., et al. A genome-wide association meta-Analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat. Genet. 45, 907-911 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 907-911
    • Hinds, D.A.1
  • 39
    • 49749122987 scopus 로고    scopus 로고
    • Population substructure and control selection in genome-wide association studies
    • Yu K., et al. Population substructure and control selection in genome-wide association studies. PLoS ONE 3, e2551 (2008).
    • (2008) PLoS ONE , vol.3 , pp. e2551
    • Yu, K.1
  • 40
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price A. L., et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
    • (2006) Nat. Genet. , vol.38 , pp. 904-909
    • Price, A.L.1
  • 41
    • 57249114505 scopus 로고    scopus 로고
    • SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap
    • Johnson A. D., et al. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24, 2938-2939 (2008).
    • (2008) Bioinformatics , vol.24 , pp. 2938-2939
    • Johnson, A.D.1
  • 42
    • 84940734774 scopus 로고    scopus 로고
    • Genome-wide meta-Analysis identifies five new susceptibility loci for cutaneous malignant melanoma
    • Law M. H., et al. Genome-wide meta-Analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat. Genet. 47, 987-995 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 987-995
    • Law, M.H.1
  • 43
    • 84927632318 scopus 로고    scopus 로고
    • Family history of skin cancer is associated with increased risk of cutaneous squamous cell carcinoma
    • Asgari M. M., Warton E. M., & Whittemore A. S. Family history of skin cancer is associated with increased risk of cutaneous squamous cell carcinoma. Dermatol. Surg. 41, 481-486 (2015).
    • (2015) Dermatol. Surg. , vol.41 , pp. 481-486
    • Asgari, M.M.1    Warton, E.M.2    Whittemore, A.S.3
  • 44
    • 84865852567 scopus 로고    scopus 로고
    • Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors
    • Wang J., et al. Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors. Genome Res. 22, 1798-1812 (2012).
    • (2012) Genome Res. , vol.22 , pp. 1798-1812
    • Wang, J.1
  • 45
    • 84978849992 scopus 로고    scopus 로고
    • Broad Institute (accessed September
    • Ward LD. HaploReg v4.0. Broad Institute (accessed September 2015).
    • (2015) HaploReg v4.0.
    • Ward, L.D.1
  • 46
    • 79955583542 scopus 로고    scopus 로고
    • Mapping and analysis of chromatin state dynamics in nine human cell types
    • Ernst J., et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473, 43-49 (2011).
    • (2011) Nature , vol.473 , pp. 43-49
    • Ernst, J.1
  • 47
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Consortium EP. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
    • (2012) Nature , vol.489 , pp. 57-74
    • Consortium, E.P.1
  • 48
    • 79955550445 scopus 로고    scopus 로고
    • A user?s guide to the encyclopedia of DNA elements (ENCODE)
    • Consortium EP. A user?s guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol. 9, e1001046 (2011).
    • (2011) PLoS Biol. , vol.9 , pp. e1001046
    • Consortium, E.P.1
  • 49
    • 84862263248 scopus 로고    scopus 로고
    • The NIH Roadmap Epigenomics Program data resource
    • Chadwick L. H. The NIH Roadmap Epigenomics Program data resource. Epigenomics 4, 317-324 (2012).
    • (2012) Epigenomics , vol.4 , pp. 317-324
    • Chadwick, L.H.1
  • 50
    • 84929001104 scopus 로고    scopus 로고
    • Human genomics the Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
    • Consortium GT. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648-660 (2015).
    • (2015) Science , vol.348 , pp. 648-660
    • Consortium, G.T.1
  • 51
    • 0036364293 scopus 로고    scopus 로고
    • Trend tests for case-control studies of genetic markers: Power, sample size and robustness
    • Freidlin B., Zheng G., Li Z., & Gastwirth J. L. Trend tests for case-control studies of genetic markers: power, sample size and robustness. Hum. Hered. 53, 146-152 (2002).
    • (2002) Hum. Hered. , vol.53 , pp. 146-152
    • Freidlin, B.1    Zheng, G.2    Li, Z.3    Gastwirth, J.L.4


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