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Importance of nonsynonymous OCA2 variants in human eye color prediction
BACKGROUND: The color of the eyes is one of the most prominent phenotypes in humans and it is often used to describe the appearance of an individual. The intensity of pigmentation in the iris is strongly associated with one single‐nucleotide polymorphism (SNP), rs12913832:A>G that is located in t...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947861/ https://www.ncbi.nlm.nih.gov/pubmed/27468418 http://dx.doi.org/10.1002/mgg3.213 |
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author | Andersen, Jeppe D. Pietroni, Carlotta Johansen, Peter Andersen, Mikkel M. Pereira, Vania Børsting, Claus Morling, Niels |
author_facet | Andersen, Jeppe D. Pietroni, Carlotta Johansen, Peter Andersen, Mikkel M. Pereira, Vania Børsting, Claus Morling, Niels |
author_sort | Andersen, Jeppe D. |
collection | PubMed |
description | BACKGROUND: The color of the eyes is one of the most prominent phenotypes in humans and it is often used to describe the appearance of an individual. The intensity of pigmentation in the iris is strongly associated with one single‐nucleotide polymorphism (SNP), rs12913832:A>G that is located in the promotor region of OCA2 (OMIM #611409). Nevertheless, many eye colors cannot be explained by only considering rs12913832:A>G. METHODS: In this study, we searched for additional variants in OCA2 to explain human eye color by sequencing a 500 kbp region, encompassing OCA2 and its promotor region. RESULTS: We identified three nonsynonymous OCA2 variants as important for eye color, including rs1800407:G>A (p.Arg419Gln) and two variants, rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile), not previously described as important for eye color variation. It was shown that estimated haplotypes consisting of four variants (rs12913832:A>G, rs1800407:G>A (p.Arg419Gln), rs74653330:A>T (p.Ala481Thr), and rs121918166:G>A (p.Val443Ile)) explained 75.6% (adjusted R (2) = 0.76) of normal eye color variation, whereas rs12913832:A>G alone explained 68.8% (adjusted R (2) = 0.69). Moreover, rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile) had a measurable effect on quantitative skin color (P = 0.008). CONCLUSION: Our data showed that rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile) have a measurable effect on normal pigmentation variation. |
format | Online Article Text |
id | pubmed-4947861 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-49478612016-07-27 Importance of nonsynonymous OCA2 variants in human eye color prediction Andersen, Jeppe D. Pietroni, Carlotta Johansen, Peter Andersen, Mikkel M. Pereira, Vania Børsting, Claus Morling, Niels Mol Genet Genomic Med Original Articles BACKGROUND: The color of the eyes is one of the most prominent phenotypes in humans and it is often used to describe the appearance of an individual. The intensity of pigmentation in the iris is strongly associated with one single‐nucleotide polymorphism (SNP), rs12913832:A>G that is located in the promotor region of OCA2 (OMIM #611409). Nevertheless, many eye colors cannot be explained by only considering rs12913832:A>G. METHODS: In this study, we searched for additional variants in OCA2 to explain human eye color by sequencing a 500 kbp region, encompassing OCA2 and its promotor region. RESULTS: We identified three nonsynonymous OCA2 variants as important for eye color, including rs1800407:G>A (p.Arg419Gln) and two variants, rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile), not previously described as important for eye color variation. It was shown that estimated haplotypes consisting of four variants (rs12913832:A>G, rs1800407:G>A (p.Arg419Gln), rs74653330:A>T (p.Ala481Thr), and rs121918166:G>A (p.Val443Ile)) explained 75.6% (adjusted R (2) = 0.76) of normal eye color variation, whereas rs12913832:A>G alone explained 68.8% (adjusted R (2) = 0.69). Moreover, rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile) had a measurable effect on quantitative skin color (P = 0.008). CONCLUSION: Our data showed that rs74653330:A>T (p.Ala481Thr) and rs121918166:G>A (p.Val443Ile) have a measurable effect on normal pigmentation variation. John Wiley and Sons Inc. 2016-03-11 /pmc/articles/PMC4947861/ /pubmed/27468418 http://dx.doi.org/10.1002/mgg3.213 Text en © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Andersen, Jeppe D. Pietroni, Carlotta Johansen, Peter Andersen, Mikkel M. Pereira, Vania Børsting, Claus Morling, Niels Importance of nonsynonymous OCA2 variants in human eye color prediction |
title | Importance of nonsynonymous OCA2 variants in human eye color prediction |
title_full | Importance of nonsynonymous OCA2 variants in human eye color prediction |
title_fullStr | Importance of nonsynonymous OCA2 variants in human eye color prediction |
title_full_unstemmed | Importance of nonsynonymous OCA2 variants in human eye color prediction |
title_short | Importance of nonsynonymous OCA2 variants in human eye color prediction |
title_sort | importance of nonsynonymous oca2 variants in human eye color prediction |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947861/ https://www.ncbi.nlm.nih.gov/pubmed/27468418 http://dx.doi.org/10.1002/mgg3.213 |
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