메뉴 건너뛰기




Volumn 39, Issue 8, 2012, Pages 693-698

Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma

Author keywords

association study; basal cell carcinoma; epistasis; IRF4; MC1R; pigmentation genes

Indexed keywords

ASIP PROTEIN; HERC2 PROTEIN; INTERFERON REGULATORY FACTOR 4; KITLG PROTEIN; MC1R PROTEIN; OCA2 PROTEIN; PROTEIN; SLC24A4 PROTEIN; SLC45A2 PROTEIN; TPCN2 PROTEIN; TYR PROTEIN; TYRP1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84864414684     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2012.01559.x     Document Type: Article
Times cited : (14)

References (34)
  • 1
    • 67650073375 scopus 로고    scopus 로고
    • Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
    • Nan H, Kraft P, Hunter DJ, Han J,. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 2009; 125: 909-917.
    • (2009) Int J Cancer , vol.125 , pp. 909-917
    • Nan, H.1    Kraft, P.2    Hunter, D.J.3    Han, J.4
  • 4
    • 0033912992 scopus 로고    scopus 로고
    • The evolution of human skin coloration
    • DOI 10.1006/jhev.2000.0403
    • Jablonski NG, Chaplin G,. The evolution of human skin coloration. J Hum Evol 2000; 39: 57-106. (Pubitemid 30480792)
    • (2000) Journal of Human Evolution , vol.39 , Issue.1 , pp. 57-106
    • Jablonski, N.G.1    Chaplin, G.2
  • 5
    • 77956301673 scopus 로고    scopus 로고
    • Genome-wide association studies of pigmentation and skin cancer: A review and meta-analysis
    • Gerstenblith MR, Shi J, Landi MT,. Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res 2010; 23: 587-606.
    • (2010) Pigment Cell Melanoma Res , vol.23 , pp. 587-606
    • Gerstenblith, M.R.1    Shi, J.2    Landi, M.T.3
  • 11
    • 44849091227 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    • Han J, Kraft P, Nan H, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 2008; 4: e1000074.
    • (2008) PLoS Genet , vol.4
    • Han, J.1    Kraft, P.2    Nan, H.3
  • 12
    • 40749148586 scopus 로고    scopus 로고
    • Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    • Kayser M, Liu F, Janssens JW, et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 2008; 82: 411-423.
    • (2008) Am J Hum Genet , vol.82 , pp. 411-423
    • Kayser, M.1    Liu, F.2    Janssens, J.W.3
  • 14
    • 55049127580 scopus 로고    scopus 로고
    • Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
    • Stacey SN, Gudbjartsson DF, Sulem P, et al. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. Nat Genet 2008; 40: 1313-1318.
    • (2008) Nat Genet , vol.40 , pp. 1313-1318
    • Stacey, S.N.1    Gudbjartsson, D.F.2    Sulem, P.3
  • 15
    • 68149170036 scopus 로고    scopus 로고
    • New common variants affecting susceptibility to basal cell carcinoma
    • Stacey SN, Sulem P, Masson G, et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 2009; 41: 909-914.
    • (2009) Nat Genet , vol.41 , pp. 909-914
    • Stacey, S.N.1    Sulem, P.2    Masson, G.3
  • 16
    • 0028786945 scopus 로고
    • Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
    • Valverde P, Healy E, Jackson I, Rees JL, Thody AJ,. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995; 11: 328-330.
    • (1995) Nat Genet , vol.11 , pp. 328-330
    • Valverde, P.1    Healy, E.2    Jackson, I.3    Rees, J.L.4    Thody, A.J.5
  • 17
    • 28044450150 scopus 로고    scopus 로고
    • Melanocortin-1 receptor structure and functional regulation
    • DOI 10.1111/j.1600-0749.2005.00278.x
    • García-Borrõn JC, Sánchez-Laorden BL, Jiménez-Cervantes C,. Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res 2005; 18: 393-410. (Pubitemid 41691455)
    • (2005) Pigment Cell Research , vol.18 , Issue.6 , pp. 393-410
    • Garcia-Borron, J.C.1    Sanchez-Laorden, B.L.2    Jimenez-Cervantes, C.3
  • 18
    • 79952227506 scopus 로고    scopus 로고
    • A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus
    • Han J, Qureshi AA, Nan H, et al. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res 2011; 71: 1533-1539.
    • (2011) Cancer Res , vol.71 , pp. 1533-1539
    • Han, J.1    Qureshi, A.A.2    Nan, H.3
  • 20
    • 60549085065 scopus 로고    scopus 로고
    • Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype
    • Branicki W, Brudnik U, Wojas-Pelc A,. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet 2009; 73: 160-170.
    • (2009) Ann Hum Genet , vol.73 , pp. 160-170
    • Branicki, W.1    Brudnik, U.2    Wojas-Pelc, A.3
  • 25
    • 58249125574 scopus 로고    scopus 로고
    • The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population
    • Brudnik U, Branicki W, Wojas-Pelc A, Kanas P,. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol 2009; 18: 167-174.
    • (2009) Exp Dermatol , vol.18 , pp. 167-174
    • Brudnik, U.1    Branicki, W.2    Wojas-Pelc, A.3    Kanas, P.4
  • 26
    • 75549084094 scopus 로고    scopus 로고
    • Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    • Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW,. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 2010; 130: 520-528.
    • (2010) J Invest Dermatol , vol.130 , pp. 520-528
    • Duffy, D.L.1    Zhao, Z.Z.2    Sturm, R.A.3    Hayward, N.K.4    Martin, N.G.5    Montgomery, G.W.6
  • 27
    • 61449178881 scopus 로고    scopus 로고
    • Eye color and the prediction of complex phenotypes from genotypes
    • Liu F, van Duijn K, Vingerling JR, et al. Eye color and the prediction of complex phenotypes from genotypes. Curr Biol 2009; 19: R192-R193.
    • (2009) Curr Biol , vol.19
    • Liu, F.1    Van Duijn, K.2    Vingerling, J.R.3
  • 28
    • 79951796014 scopus 로고    scopus 로고
    • Model-based prediction of human hair color using DNA variants
    • Branicki W, Liu F, van DuijnK, et al. Model-based prediction of human hair color using DNA variants. Hum Genet 2011; 129: 443-454.
    • (2011) Hum Genet , vol.129 , pp. 443-454
    • Branicki, W.1    Liu, F.2    Van, D.3
  • 29
    • 77954167176 scopus 로고    scopus 로고
    • Web-based, participant-driven studies yield novel genetic associations for common traits
    • Eriksson N, Macpherson JM, Tung JY, et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet 2010; 6: e1000993.
    • (2010) PLoS Genet , vol.6
    • Eriksson, N.1    MacPherson, J.M.2    Tung, J.Y.3
  • 30
    • 77955068269 scopus 로고    scopus 로고
    • IRF4 variants have age-specific effects on nevus count and predispose to melanoma
    • Duffy DL, Iles MM, Glass D, et al. IRF4 variants have age-specific effects on nevus count and predispose to melanoma. Am J Hum Genet 2010; 87: 6-16.
    • (2010) Am J Hum Genet , vol.87 , pp. 6-16
    • Duffy, D.L.1    Iles, M.M.2    Glass, D.3
  • 31
    • 0029069958 scopus 로고
    • Molecular cloning of LSIRF, a lymphoid-specifi member of the interferon regulatory factor family that binds the interferon stimulated response element (ISRE)
    • Matsuyama T, Grossman A, Mittrucker HW, et al. Molecular cloning of LSIRF, a lymphoid-specifi member of the interferon regulatory factor family that binds the interferon stimulated response element (ISRE). Nucleic Acids Res 1995; 23: 2127-2136.
    • (1995) Nucleic Acids Res , vol.23 , pp. 2127-2136
    • Matsuyama, T.1    Grossman, A.2    Mittrucker, H.W.3
  • 32
    • 74149093117 scopus 로고    scopus 로고
    • An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males
    • Do TN, Ucisik-Akkaya E, Davis CF, Morrison BA, Dorak MT,. An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males. Biochim Biophys Acta 2010; 1802: 292-300.
    • (2010) Biochim Biophys Acta , vol.1802 , pp. 292-300
    • Do, T.N.1    Ucisik-Akkaya, E.2    Davis, C.F.3    Morrison, B.A.4    Dorak, M.T.5
  • 33
    • 0345411335 scopus 로고    scopus 로고
    • The ubiquitous nature of epistasis in determining susceptibility to common human diseases
    • DOI 10.1159/000073735
    • Moore JH,. The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum Hered 2003; 56: 73-82. (Pubitemid 37465073)
    • (2003) Human Heredity , vol.56 , Issue.1-3 , pp. 73-82
    • Moore, J.H.1
  • 34
    • 68149179663 scopus 로고    scopus 로고
    • Genome-wide association study identifies three loci associated with melanoma risk
    • Bishop DT, Demenais F, Iles MM, et al. Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet 2009; 41: 920-925.
    • (2009) Nat Genet , vol.41 , pp. 920-925
    • Bishop, D.T.1    Demenais, F.2    Iles, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.