title: Genetic determinants of hair, eye and skin pigmentation in Europeans.
abstract: 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.
authors.affiliation: deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
authors.forename: Patrick
authors.initials: P
authors.lastname: Sulem
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.forename: Simon N
authors.initials: SN
authors.lastname: Stacey
authors.forename: Agnar
authors.initials: A
authors.lastname: Helgason
authors.forename: Thorunn
authors.initials: T
authors.lastname: Rafnar
authors.forename: Kristinn P
authors.initials: KP
authors.lastname: Magnusson
authors.forename: Andrei
authors.initials: A
authors.lastname: Manolescu
authors.forename: Ari
authors.initials: A
authors.lastname: Karason
authors.forename: Arnar
authors.initials: A
authors.lastname: Palsson
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: Margret
authors.initials: M
authors.lastname: Jakobsdottir
authors.forename: Stacy
authors.initials: S
authors.lastname: Steinberg
authors.forename: Snaebjörn
authors.initials: S
authors.lastname: Pálsson
authors.forename: Fridbert
authors.initials: F
authors.lastname: Jonasson
authors.forename: Bardur
authors.initials: B
authors.lastname: Sigurgeirsson
authors.forename: Kristin
authors.initials: K
authors.lastname: Thorisdottir
authors.forename: Rafn
authors.initials: R
authors.lastname: Ragnarsson
authors.forename: Kristrun R
authors.initials: KR
authors.lastname: Benediktsdottir
authors.forename: Katja K
authors.initials: KK
authors.lastname: Aben
authors.forename: Lambertus A
authors.initials: LA
authors.lastname: Kiemeney
authors.forename: Jon H
authors.initials: JH
authors.lastname: Olafsson
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Gulcher
authors.forename: Augie
authors.initials: A
authors.lastname: Kong
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D017920:Antiporters / Q000235:genetics; D005127:Eye Color / Q000235:genetics*; D005260:Female; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D007055:Iceland; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D014442:Monophenol Monooxygenase / Q000235:genetics; D009426:Netherlands; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics*; D019089:Stem Cell Factor / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D017920:Antiporters; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D044102:Receptor, Melanocortin, Type 1; C470570:SLC24A4 protein, human; D019089:Stem Cell Factor; D014442:Monophenol Monooxygenase