Genetic determinants of hair, eye and skin pigmentation in Europeans
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensi...
Published in: | Nature Genetics |
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Online Access: | http://hdl.handle.net/2336/15572 https://doi.org/10.1038/ng.2007.13 |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/15572 2023-05-15T16:50:25+02:00 Genetic determinants of hair, eye and skin pigmentation in Europeans Sulem, Patrick Gudbjartsson, Daniel F Stacey, Simon N Helgason, Agnar Rafnar, Thorunn Magnusson, Kristinn P Manolescu, Andrei Karason, Ari Palsson, Arnar Thorleifsson, Gudmar Jakobsdottir, Margret Steinberg, Stacy Pálsson, Snaebjörn Jonasson, Fridbert Sigurgeirsson, Bardur Thorisdottir, Kristin Ragnarsson, Rafn Benediktsdottir, Kristrun R Aben, Katja K Kiemeney, Lambertus A Olafsson, Jon H Gulcher, Jeffrey Kong, Augie Thorsteinsdottir, Unnur Stefansson, Kari deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. 2008-01-02 http://hdl.handle.net/2336/15572 https://doi.org/10.1038/ng.2007.13 en eng Nature Pub. Co. http://dx.doi.org/10.1038/ng.2007.13 Nat Genet. 2007, 39 (12):1443-52 1061-4036 17952075 doi:10.1038/ng.2007.13 http://hdl.handle.net/2336/15572 1546-1718 Nature genetics Antiporters European Continental Ancestry Group Eye Color Female Hair Color Iceland Male Membrane Transport Proteins Monophenol Monooxygenase Netherlands Polymorphism Single Nucleotide Receptor Melanocortin Type 1 Skin Pigmentation Stem Cell Factor Article 2008 ftlandspitaliuni https://doi.org/10.1038/ng.2007.13 2022-05-29T08:21:03Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Nature Genetics 39 12 1443 1452 |
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Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Antiporters European Continental Ancestry Group Eye Color Female Hair Color Iceland Male Membrane Transport Proteins Monophenol Monooxygenase Netherlands Polymorphism Single Nucleotide Receptor Melanocortin Type 1 Skin Pigmentation Stem Cell Factor |
spellingShingle |
Antiporters European Continental Ancestry Group Eye Color Female Hair Color Iceland Male Membrane Transport Proteins Monophenol Monooxygenase Netherlands Polymorphism Single Nucleotide Receptor Melanocortin Type 1 Skin Pigmentation Stem Cell Factor Sulem, Patrick Gudbjartsson, Daniel F Stacey, Simon N Helgason, Agnar Rafnar, Thorunn Magnusson, Kristinn P Manolescu, Andrei Karason, Ari Palsson, Arnar Thorleifsson, Gudmar Jakobsdottir, Margret Steinberg, Stacy Pálsson, Snaebjörn Jonasson, Fridbert Sigurgeirsson, Bardur Thorisdottir, Kristin Ragnarsson, Rafn Benediktsdottir, Kristrun R Aben, Katja K Kiemeney, Lambertus A Olafsson, Jon H Gulcher, Jeffrey Kong, Augie Thorsteinsdottir, Unnur Stefansson, Kari Genetic determinants of hair, eye and skin pigmentation in Europeans |
topic_facet |
Antiporters European Continental Ancestry Group Eye Color Female Hair Color Iceland Male Membrane Transport Proteins Monophenol Monooxygenase Netherlands Polymorphism Single Nucleotide Receptor Melanocortin Type 1 Skin Pigmentation Stem Cell Factor |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R. |
author2 |
deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Sulem, Patrick Gudbjartsson, Daniel F Stacey, Simon N Helgason, Agnar Rafnar, Thorunn Magnusson, Kristinn P Manolescu, Andrei Karason, Ari Palsson, Arnar Thorleifsson, Gudmar Jakobsdottir, Margret Steinberg, Stacy Pálsson, Snaebjörn Jonasson, Fridbert Sigurgeirsson, Bardur Thorisdottir, Kristin Ragnarsson, Rafn Benediktsdottir, Kristrun R Aben, Katja K Kiemeney, Lambertus A Olafsson, Jon H Gulcher, Jeffrey Kong, Augie Thorsteinsdottir, Unnur Stefansson, Kari |
author_facet |
Sulem, Patrick Gudbjartsson, Daniel F Stacey, Simon N Helgason, Agnar Rafnar, Thorunn Magnusson, Kristinn P Manolescu, Andrei Karason, Ari Palsson, Arnar Thorleifsson, Gudmar Jakobsdottir, Margret Steinberg, Stacy Pálsson, Snaebjörn Jonasson, Fridbert Sigurgeirsson, Bardur Thorisdottir, Kristin Ragnarsson, Rafn Benediktsdottir, Kristrun R Aben, Katja K Kiemeney, Lambertus A Olafsson, Jon H Gulcher, Jeffrey Kong, Augie Thorsteinsdottir, Unnur Stefansson, Kari |
author_sort |
Sulem, Patrick |
title |
Genetic determinants of hair, eye and skin pigmentation in Europeans |
title_short |
Genetic determinants of hair, eye and skin pigmentation in Europeans |
title_full |
Genetic determinants of hair, eye and skin pigmentation in Europeans |
title_fullStr |
Genetic determinants of hair, eye and skin pigmentation in Europeans |
title_full_unstemmed |
Genetic determinants of hair, eye and skin pigmentation in Europeans |
title_sort |
genetic determinants of hair, eye and skin pigmentation in europeans |
publisher |
Nature Pub. Co. |
publishDate |
2008 |
url |
http://hdl.handle.net/2336/15572 https://doi.org/10.1038/ng.2007.13 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1038/ng.2007.13 Nat Genet. 2007, 39 (12):1443-52 1061-4036 17952075 doi:10.1038/ng.2007.13 http://hdl.handle.net/2336/15572 1546-1718 Nature genetics |
op_doi |
https://doi.org/10.1038/ng.2007.13 |
container_title |
Nature Genetics |
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39 |
container_issue |
12 |
container_start_page |
1443 |
op_container_end_page |
1452 |
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1766040566575923200 |