title: Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
abstract: 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.
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
authors.forename: Peter
authors.initials: P
authors.lastname: Johansen
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
authors.forename: Jeppe Dyrberg
authors.initials: JD
authors.lastname: Andersen
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
authors.forename: Linnea Nørgård
authors.initials: LN
authors.lastname: Madsen
authors.affiliation: Department of Clinical Immunology, University Hospital Copenhagen, Rigshospitalet, Copenhagen, Denmark.
authors.forename: Henrik
authors.initials: H
authors.lastname: Ullum
authors.affiliation: Department of Dermatology, Faculty of Health and Medical Sciences, University of Copenhagen, Bispebjerg Hospital, Copenhagen, Denmark.
authors.forename: Martin
authors.initials: M
authors.lastname: Glud
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
authors.forename: Claus
authors.initials: C
authors.lastname: Børsting
authors.affiliation: Department of Dermatology, Faculty of Health and Medical Sciences, University of Copenhagen, Bispebjerg Hospital, Copenhagen, Denmark.
authors.forename: Robert
authors.initials: R
authors.lastname: Gniadecki
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
mesh_terms: D000328:Adult; D015331:Cohort Studies; D003718:Denmark; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D009506:Nevus / Q000473:pathology*; D010858:Pigmentation; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D012880:Skin Pigmentation / Q000235:genetics / Q000502:physiology*; D014466:Ultraviolet Rays
chemical_list: D044102:Receptor, Melanocortin, Type 1