Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue‐brown eye color in the Japanese population
Abstract
Human eye color is a polymorphic phenotype influenced by multiple genes. It has recently been reported that three single nucleotide polymorphisms (SNPs) within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138) and two SNPs in intron 86 (rs12913832) and the 3′ UTR region (rs1129038) of the HERC2 gene—located in the upstream of the OCA2 locus —have a high statistical association with human eye color. The present study is the first to examine in detail the genotype and haplotype frequencies for these five SNPs in an Asian (Japanese) population (n = 523) comprising solely brown‐eyed individuals. Comparison of the genotype and haplotype distributions in Japanese with those in African and European subjects revealed significant differences between Japanese and other populations. Analysis of haplotypes consisting of four SNPs at the HERC2‐OCA2 locus (rs12913832/rs7495174/rs4778241/rs4778138) showed that the most frequent haplotype in the Japanese population is A‐GAG (0.568), while the frequency of this haplotype is rather low in the European population, even in the brown‐eyed group (0.167). The haplotype distribution in the Japanese population was significantly different from that in the brown‐eyed European group (FST = 0.18915). Copyright © 2009 John Wiley & Sons, Ltd.
Number of times cited: 10
- Misuzu Ueki, Haruo Takeshita, Junko Fujihara, Kaori Kimura-Kataoka, Reiko Iida and Toshihiro Yasuda, Simple screening method for copy number variations associated with physical features, Legal Medicine, 25, (71), (2017).
- Kornkiat Vongpaisarnsin and Kittikamol Vongpaisarnsin, Eye colour single nucleotide polymorphisms (SNPs) variants in Thai population, Forensic Science International: Genetics Supplement Series, 4, 1, (e198), (2013).
- Haruo Takeshita, Junko Fujihara, Mikiko Soejima, Yoshiro Koda, Kaori Kimura‐Kataoka, Rei‐Ichiro Ono, Isao Yuasa, Reiko Iida, Misuzu Ueki, Masataka Nagao and Toshihiro Yasuda, Confirmation that SNPs in the high mobility group‐A2 gene (HMGA2) are associated with adult height in the Japanese population; wide‐ranging population survey of height‐related SNPs in HMGA2, ELECTROPHORESIS, 32, 14, (1844-1851), (2011).
- Olga Spichenok, Zoran M. Budimlija, Adele A. Mitchell, Andreas Jenny, Lejla Kovacevic, Damir Marjanovic, Theresa Caragine, Mechthild Prinz and Elisa Wurmbach, Prediction of eye and skin color in diverse populations using seven SNPs, Forensic Science International: Genetics, 5, 5, (472), (2011).
- Susan Walsh, Fan Liu, Kaye N. Ballantyne, Mannis van Oven, Oscar Lao and Manfred Kayser, IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information, Forensic Science International: Genetics, 5, 3, (170), (2011).
- Ewelina Pośpiech, Jolanta Draus-Barini, Tomasz Kupiec, Anna Wojas-Pelc and Wojciech Branicki, Gene–gene interactions contribute to eye colour variation in humans, Journal of Human Genetics, 56, 6, (447), (2011).
- Morten Rasmussen, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan, Kasper Nielsen, M. Thomas P. Gilbert, Yong Wang, Maanasa Raghavan, Paula F. Campos, Hanne Munkholm Kamp, Andrew S. Wilson, Andrew Gledhill, Silvana Tridico, Michael Bunce, Eline D. Lorenzen, Jonas Binladen, Xiaosen Guo, Jing Zhao, Xiuqing Zhang, Hao Zhang, Zhuo Li, Minfeng Chen, Ludovic Orlando, Karsten Kristiansen, Mads Bak, Niels Tommerup, Christian Bendixen, Tracey L. Pierre, Bjarne Grønnow, Morten Meldgaard, Claus Andreasen, Sardana A. Fedorova, Ludmila P. Osipova, Thomas F. G. Higham, Christopher Bronk Ramsey, Thomas v. O. Hansen, Finn C. Nielsen, Michael H. Crawford, Søren Brunak, Thomas Sicheritz-Pontén, Richard Villems, Rasmus Nielsen, Anders Krogh, Jun Wang and Eske Willerslev, Ancient human genome sequence of an extinct Palaeo-Eskimo, Nature, 463, 7282, (757), (2010).
- Richard A. Sturm and Mats Larsson, Genetics of human iris colour and patterns, Pigment Cell & Melanoma Research, 22, 5, (544-562), (2009).
- M.G. Kosmadaki, A.J. Stratigos, Ch. Antoniou and A. Katsambas, DNA Polymorphisms: What They Are and Their Role in Human Pigmentation, Actas Dermo-Sifiliográficas, 10.1016/S0001-7310(09)73383-6, 100, (84-87), (2009).
- Mian Sahib Zar, Ahmad Ali Shahid, Muhammad Saqib Shahzad, Kyoung‐Jin Shin, Hwan Young Lee, Sang‐Seob Lee, Muhammad Israr, Peter Wiegand and Galina Kulstein, Forensic SNP Genotyping with SNaPshot: Development of a Novel In‐house SBE Multiplex SNP Assay,, Journal of Forensic Sciences, , (2018).
