TY - JOUR
T1 - Pigmentary Markers in Danes – Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome
AU - Johansen, Peter
AU - Andersen, Jeppe Dyrberg
AU - Madsen, Linnea Nørgård
AU - Ullum, Henrik
AU - Glud, Martin
AU - Børsting, Claus
AU - Gniadecki, Robert
AU - Morling, Niels
PY - 2016/3
Y1 - 2016/3
N2 - To investigate whether pigmentation genes involved in the melanogenic pathway (melano-genesis) 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.TYR1 52∗), 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.
AB - To investigate whether pigmentation genes involved in the melanogenic pathway (melano-genesis) 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.TYR1 52∗), 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.
U2 - 10.1371/journal.pone.0150381
DO - 10.1371/journal.pone.0150381
M3 - Journal article
C2 - 26938746
SN - 1932-6203
VL - 11
JO - PLoS Computational Biology
JF - PLoS Computational Biology
IS - 3
M1 - e0150381
ER -