Prediction of Eye Color from Genetic Data Using Bayesian Approach*
Correction(s) for this article
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Erratum
- Volume 58Issue 2Journal of Forensic Sciences
- pages: 565-565
- First Published online: March 12, 2013
Ewelina Pośpiech M.S.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorJolanta Draus-Barini M.S.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorTomasz Kupiec Ph.D.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorAnna Wojas-Pelc Ph.D., M.D.
Department of Dermatology, Collegium Medicum of the Jagiellonian University, Skawińska 8, 31-066 Kraków, Poland.
Search for more papers by this authorWojciech Branicki Ph.D.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Ingardena 6, 30-060 Kraków, Poland.
Search for more papers by this authorEwelina Pośpiech M.S.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorJolanta Draus-Barini M.S.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorTomasz Kupiec Ph.D.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Search for more papers by this authorAnna Wojas-Pelc Ph.D., M.D.
Department of Dermatology, Collegium Medicum of the Jagiellonian University, Skawińska 8, 31-066 Kraków, Poland.
Search for more papers by this authorWojciech Branicki Ph.D.
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31-033 Kraków, Poland.
Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Ingardena 6, 30-060 Kraków, Poland.
Search for more papers by this authorSupported by a grant from the Ministry of Science and Higher Education in Poland, No. ON301115136 (science fund for years 2009–2012).
Abstract
Abstract: Prediction of visible traits from genetic data in certain forensic cases may provide important information that can speed up the process of investigation. Research that has been conducted on the genetics of pigmentation has revealed polymorphisms that explain a significant proportion of the variation observed in human iris color. Here, on the basis of genetic data for the six most relevant eye color predictors, two alternative Bayesian network model variants were developed and evaluated for their accuracy in prediction of eye color. The first model assumed eye color to be categorized into blue, brown, green, and hazel, while the second variant assumed a simplified classification with two states: light and dark. It was found that particularly high accuracy was obtained for the second model, and this proved that reliable differentiation between light and dark irises is possible based on analysis of six single nucleotide polymorphisms and a Bayesian procedure of evidence interpretation.
Supporting Information
Table S1. PCR primer sequences.
Table S2. Extension primer sequences.
Table S3. Conditional probability table used in BN-I model variant calculated from the frequency of each pair of alleles for each SNP in four eye color groups: blue, green, hazel and brown.
Table S4. Conditional probability table used in BN-II model variant calculated from the frequency of each pair of alleles for each SNP in two eye-color groups: light and dark.
Table S5. Testing results for BN-I and BN-II model variants for eighty external samples.
Filename | Description |
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JFO_2077_sm_TableS1-S5.doc683 KB | Supporting info item |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
References
- 1 Brand A, Brand H, Schulte in den Bäumen T. The impact of genetics and genomics on public health. Eur J Hum Genet 2008; 16: 5–13.
- 2 Kayser M, Schneider PM. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet 2009; 3: 154–61.
- 3 Branicki W, Brudnik U, Wojas-Pelc A. Genetic prediction of pigmentary traits in forensic studies. Probl Forensic Sci 2005; 64: 343–57.
- 4 Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989; 164: 990–6.
- 5 Richnik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993; 361: 72–6.
- 6 Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite gene underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 2001; 69: 981–8.
- 7 Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3.” Am J Hum Genet 1996; 58: 1145–56.
- 8 Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra KS, Ginjupalli S, et al. Sequences associated with human iris pigmentation. Genetics 2003; 165: 2071–83.
- 9 Sturm RA, Duffy DL, Zhao ZZ. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 2008; 82: 424–31.
- 10 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.
- 11 Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 2008; 40: 835–7.
- 12 Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 2008; 4(5):e1000074.
- 13 Eiberg H, Mohr J. Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. Eur J Hum Genet 1996; 4: 237–41.
- 14 Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet 2004; 20: 327–32.
- 15 Branicki W, Brudnik U, Kupiec T, Wolańska-Nowak P, Szczerbińska A, Wojas-Pelc A. Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method. Ann Hum Genet 2008; 72: 184–92.
- 16 Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 2008; 82: 411–23.
- 17 Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, et al. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 2008; 123: 177–87.
- 18 Liu F, van Duijn K, Vingerling JR, Hofman A, Uitterlinden AG, Janssens AC, et al. Eye color and the prediction of complex phenotypes from genotypes. Curr Biol 2009; 19: 192–3.
- 19 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.
- 20 Walsh S, Lindenbergh A, Zuniga SB, Sijen T, de Knijff P, Kayser M. Developmental validation of the IrisPlex System: determination of blue and brown iris colour for forensic intelligence. Forensic Sci Int Genet 2011; 5: 464–71.
- 21 Evett IW, Weir BS. Interpreting DNA evidence. Statistical genetics for forensic scientists. Sunderland, MA: Sinauer Associates Inc, 1998.
- 22
Aitken CGG,
Taroni F.
Statistics and the evaluation of evidence for forensic scientists. Statistics in practice. Chichester, UK: John Wiley & Sons, 2004.
10.1002/0470011238 Google Scholar
- 23
Taroni F,
Aitken C,
Garbolino P,
Biedermann A.
Bayesian network and probabilistic inference in forensic science. Chichester, UK: John Wiley & Sons, Inc., 2006.
10.1002/0470091754 Google Scholar
- 24 Zadora G, Wolańska-Nowak P. Application of Bayesian network in forensic genetics and criminalistics. Probl Forensic Sci 2009; 78: 141–59.
- 25 Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol 2000; 115: 607–13.
- 26 Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, et al. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. Nat Cell Biol 2010; 12: 80–6.
- 27 Spichenok O, Budimlija ZM, Mitchell AA, Jenny A, Kovacevic L, Marjanovic D, et al. Prediction of eye color and skin color in diverse populations using seven SNPs. Forensic Sci Int Genet 2011; 5: 472–8.
- 28 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.
- 29 Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat 2005; 25: 278–84.
- 30 Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet 2007; 80: 241–52.
- 31 Mengel-From J, Børsting JJ, Sanchez C, Eiberg H, Morling N. Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet 2010; 4: 323–8.