메뉴 건너뛰기




Volumn 54, Issue 3, 2013, Pages 248-256

Improved eye- and skin-color prediction based on 8 SNPs

Author keywords

[No Author keywords available]

Indexed keywords

8 PLEX SYSTEM; ANALYTIC METHOD; ARTICLE; EYE COLOR; GENETIC ASSOCIATION; GENOTYPE; HUMAN; PRACTICE GUIDELINE; PREDICTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN COLOR; STATISTICAL SIGNIFICANCE;

EID: 84881496492     PISSN: 03539504     EISSN: 13328166     Source Type: Journal    
DOI: 10.3325/cmj.2013.54.248     Document Type: Article
Times cited : (61)

References (34)
  • 1
    • 67649509828 scopus 로고    scopus 로고
    • Cellular mechanisms regulating human melanogenesis
    • Medline:19153661 doi:10.1007/s00018-009-8703-8
    • Park HY, Kosmadaki M, Yaar M, Gilchrest BA. Cellular mechanisms regulating human melanogenesis. Cell Mol Life Sci. 2009;66:1493- 506. Medline:19153661 doi:10.1007/s00018-009-8703-8
    • (2009) Cell Mol Life Sci. , vol.66 , pp. 1493-1506
    • Park, H.Y.1    Kosmadaki, M.2    Yaar, M.3    Gilchrest, B.A.4
  • 2
    • 84856198468 scopus 로고    scopus 로고
    • Unpacking human evolution to find the genetic determinants of human skin pigmentation
    • Medline:22094403
    • Quillen EE, Shriver MD. Unpacking human evolution to find the genetic determinants of human skin pigmentation. J Invest Dermatol. 2011;131:E5-7. Medline:22094403
    • (2011) J Invest Dermatol. , vol.131
    • Quillen, E.E.1    Shriver, M.D.2
  • 3
    • 84856879030 scopus 로고    scopus 로고
    • Understanding the evolution of human pigmentation: recent contributions from population genetics
    • Medline:22113478 doi:10.1038/ jid.2011.358
    • Rees JL, Harding RM. Understanding the evolution of human pigmentation: recent contributions from population genetics. J Invest Dermatol. 2012;132:846-53. Medline:22113478 doi:10.1038/ jid.2011.358
    • (2012) J Invest Dermatol. , vol.132 , pp. 846-853
    • Rees, J.L.1    Harding, R.M.2
  • 4
    • 84866785914 scopus 로고    scopus 로고
    • Human pigmentation genes under environmental selection
    • Medline:23110848 doi:10.1186/gb-2012-13-9-248
    • Sturm RA, Duffy DL. Human pigmentation genes under environmental selection. Genome Biol. 2012;13:248. Medline:23110848 doi:10.1186/gb-2012-13-9-248
    • (2012) Genome Biol. , vol.13 , pp. 248
    • Sturm, R.A.1    Duffy, D.L.2
  • 5
    • 0034906831 scopus 로고    scopus 로고
    • Drug-induced skin pigmentation
    • Medline:11705252 doi:10.2165/00128071-200102040-00006
    • D ereure O. Drug-induced skin pigmentation. Epidemiology, diagnosis and treatment. Am J Clin Dermatol. 2001;2:253-62. Medline:11705252 doi:10.2165/00128071-200102040-00006
    • (2001) Epidemiology, diagnosis and treatment. Am J Clin Dermatol. , vol.2 , pp. 253-262
    • Dereure, O.1
  • 6
    • 77952326915 scopus 로고    scopus 로고
    • Colloquium paper: human skin pigmentation as an adaptation to UV radiation
    • Medline:20445093 doi:10.1073/ pnas.0914628107
    • Jablonski NG, Chaplin G. Colloquium paper: human skin pigmentation as an adaptation to UV radiation. Proc Natl Acad Sci U S A. 2010;107 Suppl 2:8962-8. Medline:20445093 doi:10.1073/ pnas.0914628107
    • (2010) Proc Natl Acad Sci U S A. , vol.107 , Issue.SUPPL 2 , pp. 8962-8968
    • Jablonski, N.G.1    Chaplin, G.2
  • 7
    • 1842852783 scopus 로고    scopus 로고
    • What controls variation in human skin color?
    • Medline:14551921 doi:10.1371/journal.pbio.0000027
    • Barsh GS. What controls variation in human skin color? PLoS Biol. 2003;1:E27. Medline:14551921 doi:10.1371/journal.pbio.0000027
    • (2003) PLoS Biol , vol.1
    • Barsh, G.S.1
  • 8
    • 33847188116 scopus 로고    scopus 로고
    • Melanocyte biology and skin pigmentation
    • Medline:17314970 doi:10.1038/ nature05660
    • Lin JY, Fisher DE. Melanocyte biology and skin pigmentation. Nature. 2007;445:843-50. Medline:17314970 doi:10.1038/ nature05660
    • (2007) Nature. , vol.445 , pp. 843-850
    • Lin, J.Y.1    Fisher, D.E.2
  • 9
    • 3242733252 scopus 로고    scopus 로고
    • Eye colour: portals into pigmentation genes and ancestry
    • Medline:15262401 doi:10.1016/j.tig.2004.06.010
    • Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20:327-32. Medline:15262401 doi:10.1016/j.tig.2004.06.010
    • (2004) Trends Genet. , vol.20 , pp. 327-332
    • Sturm, R.A.1    Frudakis, T.N.2
  • 10
    • 84868289448 scopus 로고    scopus 로고
    • Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations
    • Medline:23118974 doi:10.1371/journal.pone.0048294
    • Candille SI, Absher DM, Beleza S, Bauchet M, McEvoy B, Garrison NA, et al. Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS ONE. 2012;7:e48294. Medline:23118974 doi:10.1371/journal.pone.0048294
    • (2012) PLoS ONE. , vol.7
    • Candille, S.I.1    Absher, D.M.2    Beleza, S.3    Bauchet, M.4    McEvoy, B.5    Garrison, N.A.6
  • 11
    • 77956301673 scopus 로고    scopus 로고
    • Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis
    • Medline:20546537 doi:10.1111/j.1755-148X.2010.00730.x
    • 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. Medline:20546537 doi:10.1111/j.1755-148X.2010.00730.x
    • (2010) Pigment Cell Melanoma Res. , vol.23 , pp. 587-606
    • Gerstenblith, M.R.1    Shi, J.2    Landi, M.T.3
  • 12
    • 44849091227 scopus 로고    scopus 로고
    • A genomewide association study identifies novel alleles associated with hair color and skin pigmentation
    • Medline:18483556 doi:10.1371/journal.pgen.1000074
    • Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genomewide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008;4:e1000074. Medline:18483556 doi:10.1371/journal.pgen.1000074
    • (2008) PLoS Genet. , vol.4
    • Han, J.1    Kraft, P.2    Nan, H.3    Guo, Q.4    Chen, C.5    Qureshi, A.6
  • 13
    • 84865543320 scopus 로고    scopus 로고
    • Current opportunities and challenges: genome-wide association studies on pigmentation and skin cancer
    • Medline:22762390 doi:10.1111/j.1755-148X.2012.01023.x
    • Meng S, Zhang M, Liang L, Han J. Current opportunities and challenges: genome-wide association studies on pigmentation and skin cancer. Pigment Cell Melanoma Res. 2012;25:612-7. Medline:22762390 doi:10.1111/j.1755-148X.2012.01023.x
    • (2012) Pigment Cell Melanoma Res. , vol.25 , pp. 612-617
    • Meng, S.1    Zhang, M.2    Liang, L.3    Han, J.4
  • 14
    • 36749084053 scopus 로고    scopus 로고
    • A genomewide association study of skin pigmentation in a South Asian population
    • Medline:17999355 doi:10.1086/522235
    • Stokowski RP, Pant PV, Dadd T, Fereday A, Hinds DA, Jarman C, et al. A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet. 2007;81:1119-32. Medline:17999355 doi:10.1086/522235
    • (2007) Am J Hum Genet. , vol.81 , pp. 1119-1132
    • Stokowski, R.P.1    Pant, P.V.2    Dadd, T.3    Fereday, A.4    Hinds, D.A.5    Jarman, C.6
  • 15
    • 45549095745 scopus 로고    scopus 로고
    • Two newly identified genetic determinants of pigmentation in Europeans
    • Medline:18488028 doi:10.1038/ng.160
    • Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M, et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet. 2008;40:835-7. Medline:18488028 doi:10.1038/ng.160
    • (2008) Nat Genet. , vol.40 , pp. 835-837
    • Sulem, P.1    Gudbjartsson, D.F.2    Stacey, S.N.3    Helgason, A.4    Rafnar, T.5    Jakobsdottir, M.6
  • 16
    • 36549071998 scopus 로고    scopus 로고
    • Genetic determinants of hair, eye and skin pigmentation in Europeans
    • Medline:17952075 doi:10.1038/ng.2007.13
    • Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52. Medline:17952075 doi:10.1038/ng.2007.13
    • (2007) Nat Genet. , vol.39 , pp. 1443-1452
    • Sulem, P.1    Gudbjartsson, D.F.2    Stacey, S.N.3    Helgason, A.4    Rafnar, T.5    Magnusson, K.P.6
  • 17
    • 80052267479 scopus 로고    scopus 로고
    • Prediction of eye and skin color in diverse populations using seven SNPs
    • Medline:21050833 doi:10.1016/j.fsigen.2010.10.005
    • Spichenok O, Budimlija ZM, Mitchell AA, Jenny A, Kovacevic L, Marjanovic D, et al. Prediction of eye and skin color in diverse populations using seven SNPs. Forensic Sci Int Genet. 2011;5:472-8. Medline:21050833 doi:10.1016/j.fsigen.2010.10.005
    • (2011) Forensic Sci Int Genet. , vol.5 , pp. 472-478
    • Spichenok, O.1    Budimlija, Z.M.2    Mitchell, A.A.3    Jenny, A.4    Kovacevic, L.5    Marjanovic, D.6
  • 18
    • 79953836820 scopus 로고    scopus 로고
    • IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information
    • Medline:20457092 doi:10.1016/j. fsigen.2010.02.004
    • Walsh S, Liu F, Ballantyne KN, van Oven M, Lao O, Kayser M. IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet. 2011;5:170-80. Medline:20457092 doi:10.1016/j. fsigen.2010.02.004
    • (2011) Forensic Sci Int Genet. , vol.5 , pp. 170-180
    • Walsh, S.1    Liu, F.2    Ballantyne, K.N.3    van Oven, M.4    Lao, O.5    Kayser, M.6
  • 19
    • 84869497281 scopus 로고    scopus 로고
    • The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
    • Medline:22917817 doi:10.1016/j.fsigen.2012.07.005
    • Walsh S, Liu F, Wollstein A, Kovatsi L, Ralf A, Kosiniak-Kamysz A, et al. The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Sci Int Genet. 2013;7:98-115. Medline:22917817 doi:10.1016/j.fsigen.2012.07.005
    • (2013) Forensic Sci Int Genet. , vol.7 , pp. 98-115
    • Walsh, S.1    Liu, F.2    Wollstein, A.3    Kovatsi, L.4    Ralf, A.5    Kosiniak-Kamysz, A.6
  • 20
    • 84871879129 scopus 로고    scopus 로고
    • A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
    • Medline:23100201 doi:10.3325/cmj.2012.53.401
    • Kastelic V, Drobnic K. A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model. Croat Med J. 2012;53:401-8. Medline:23100201 doi:10.3325/cmj.2012.53.401
    • (2012) Croat Med J. , vol.53 , pp. 401-408
    • Kastelic, V.1    Drobnic, K.2
  • 24
    • 84856786912 scopus 로고    scopus 로고
    • Verification of eye and skin color predictors in various populations
    • Medline:22284939 doi:10.1016/j. legalmed.2011.12.005
    • Pneuman A, Budimlija ZM, Caragine T, Prinz M, Wurmbach E. Verification of eye and skin color predictors in various populations. Leg Med (Tokyo). 2012;14:78-83. Medline:22284939 doi:10.1016/j. legalmed.2011.12.005
    • (2012) Leg Med (Tokyo). , vol.14 , pp. 78-83
    • Pneuman, A.1    Budimlija, Z.M.2    Caragine, T.3    Prinz, M.4    Wurmbach, E.5
  • 25
    • 0242524432 scopus 로고    scopus 로고
    • Patterns of human genetic diversity: implications for human evolutionary history and disease
    • Medline:14527305 doi:10.1146/annurev.genom.4.070802.110226
    • T ishkoff SA, Verrelli BC. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu Rev Genomics Hum Genet. 2003;4:293-340. Medline:14527305 doi:10.1146/annurev.genom.4.070802.110226
    • (2003) Annu Rev Genomics Hum Genet. , vol.4 , pp. 293-340
    • Tishkoff, S.A.1    Verrelli, B.C.2
  • 26
    • 3543126385 scopus 로고    scopus 로고
    • VassarStats: Website for Statistical Computation
    • Available from:, Accessed: June 9,
    • Lowry R. VassarStats: Website for Statistical Computation. Available from: http://faculty.vassar.edu/lowry/tab2x2.html. Accessed: June 9, 2013.
    • (2013)
    • Lowry, R.1
  • 27
    • 84881482335 scopus 로고    scopus 로고
    • Web pages that perform statistical calculations
    • Available from:, Accessed: June 9, 2013
    • Pezzullo JC. Web pages that perform statistical calculations. 2013; Available from: http://statpages.org/. Accessed: June 9, 2013.
    • (2013)
    • Pezzullo, J.C.1
  • 28
    • 0031860393 scopus 로고    scopus 로고
    • Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL
    • Medline:9399875 doi:10.1093/nar/26.1.362
    • Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, et al. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res. 1998;26:362-7. Medline:9399875 doi:10.1093/nar/26.1.362
    • (1998) Nucleic Acids Res. , vol.26 , pp. 362-367
    • Heinemeyer, T.1    Wingender, E.2    Reuter, I.3    Hermjakob, H.4    Kel, A.E.5    Kel, O.V.6
  • 29
    • 0030761475 scopus 로고    scopus 로고
    • An acute myeloid leukemia gene, AML1, regulates transcriptional activation and hemopoietic myeloid cell differentiation antagonistically by two alternative spliced forms
    • Medline:9209372
    • T anaka T, Tanaka K, Ogawa S, Kurokawa M, Mitani K, Yazaki Y, et al. An acute myeloid leukemia gene, AML1, regulates transcriptional activation and hemopoietic myeloid cell differentiation antagonistically by two alternative spliced forms. Leukemia. 1997;11 Suppl 3:299-302. Medline:9209372
    • (1997) Leukemia. , vol.11 , Issue.SUPPL 3 , pp. 299-302
    • Tanaka, T.1    Tanaka, K.2    Ogawa, S.3    Kurokawa, M.4    Mitani, K.5    Yazaki, Y.6
  • 30
    • 78049447510 scopus 로고    scopus 로고
    • Runx1 binds as a dimeric complex to overlapping Runx1 sites within a palindromic element in the human GM-CSF enhancer
    • Medline:20483917 doi:10.1093/nar/gkq356
    • Bowers SR, Calero-Nieto FJ, Valeaux S, Fernandez-Fuentes N, Cockerill PN. Runx1 binds as a dimeric complex to overlapping Runx1 sites within a palindromic element in the human GM-CSF enhancer. Nucleic Acids Res. 2010;38:6124-34. Medline:20483917 doi:10.1093/nar/gkq356
    • (2010) Nucleic Acids Res. , vol.38 , pp. 6124-6134
    • Bowers, S.R.1    Calero-Nieto, F.J.2    Valeaux, S.3    Fernandez-Fuentes, N.4    Cockerill, P.N.5
  • 31
    • 2242451442 scopus 로고    scopus 로고
    • Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4
    • Medline:12379639 doi:10.1074/jbc.M210011200
    • Li XF, Kraev AS, Lytton J. Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. J Biol Chem. 2002;277:48410-7. Medline:12379639 doi:10.1074/jbc.M210011200
    • (2002) J Biol Chem. , vol.277 , pp. 48410-48417
    • Li, X.F.1    Kraev, A.S.2    Lytton, J.3
  • 32
    • 34548714102 scopus 로고    scopus 로고
    • Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport
    • Medline:17716241 doi:10.1042/BJ20070619
    • Lytton J. Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport. Biochem J. 2007;406:365-82. Medline:17716241 doi:10.1042/BJ20070619
    • (2007) Biochem J. , vol.406 , pp. 365-382
    • Lytton, J.1
  • 33
    • 84863487241 scopus 로고    scopus 로고
    • Prediction of eye color from genetic data using Bayesian approach
    • Medline:22372960 doi:10.1111/ j.1556-4029.2012.02077.x
    • Pospiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. Prediction of eye color from genetic data using Bayesian approach. J Forensic Sci. 2012;57:880-6. Medline:22372960 doi:10.1111/ j.1556-4029.2012.02077.x
    • (2012) J Forensic Sci. , vol.57 , pp. 880-886
    • Pospiech, E.1    Draus-Barini, J.2    Kupiec, T.3    Wojas-Pelc, A.4    Branicki, W.5
  • 34
    • 77953194221 scopus 로고    scopus 로고
    • Digital quantification of human eye color highlights genetic association of three new loci
    • Medline:20463881 doi:10.1371/journal.pgen.1000934
    • Liu F, Wollstein A, Hysi PG, Ankra-Badu GA, Spector TD, Park D, et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 2010;6:e1000934. Medline:20463881 doi:10.1371/journal.pgen.1000934
    • (2010) PLoS Genet , vol.6
    • Liu, F.1    Wollstein, A.2    Hysi, P.G.3    Ankra-Badu, G.A.4    Spector, T.D.5    Park, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.