Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multip...

Full description

Bibliographic Details
Main Authors: Peter Johansen, Jeppe Dyrberg Andersen, Linnea Nørgård Madsen, Henrik Ullum, Martin Glud, Claus Børsting, Robert Gniadecki, Niels Morling
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4777533?pdf=render
_version_ 1818017108125024256
author Peter Johansen
Jeppe Dyrberg Andersen
Linnea Nørgård Madsen
Henrik Ullum
Martin Glud
Claus Børsting
Robert Gniadecki
Niels Morling
author_facet Peter Johansen
Jeppe Dyrberg Andersen
Linnea Nørgård Madsen
Henrik Ullum
Martin Glud
Claus Børsting
Robert Gniadecki
Niels Morling
author_sort Peter Johansen
collection DOAJ
description To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (p<0.001) lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01). We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway.
first_indexed 2024-04-14T07:21:33Z
format Article
id doaj.art-4ff56bc6ed7d4f97b59f6429563b2b40
institution Directory Open Access Journal
issn 1932-6203
language English
last_indexed 2024-04-14T07:21:33Z
publishDate 2016-01-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS ONE
spelling doaj.art-4ff56bc6ed7d4f97b59f6429563b2b402022-12-22T02:06:08ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-01113e015038110.1371/journal.pone.0150381Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.Peter JohansenJeppe Dyrberg AndersenLinnea Nørgård MadsenHenrik UllumMartin GludClaus BørstingRobert GniadeckiNiels MorlingTo investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (p<0.001) lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01). We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway.http://europepmc.org/articles/PMC4777533?pdf=render
spellingShingle Peter Johansen
Jeppe Dyrberg Andersen
Linnea Nørgård Madsen
Henrik Ullum
Martin Glud
Claus Børsting
Robert Gniadecki
Niels Morling
Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
PLoS ONE
title Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
title_full Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
title_fullStr Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
title_full_unstemmed Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
title_short Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
title_sort pigmentary markers in danes associations with quantitative skin colour nevi count familial atypical multiple mole and melanoma syndrome
url http://europepmc.org/articles/PMC4777533?pdf=render
work_keys_str_mv AT peterjohansen pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT jeppedyrbergandersen pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT linneanørgardmadsen pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT henrikullum pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT martinglud pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT clausbørsting pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT robertgniadecki pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome
AT nielsmorling pigmentarymarkersindanesassociationswithquantitativeskincolournevicountfamilialatypicalmultiplemoleandmelanomasyndrome