Genetic determinants of hair, eye and skin pigmentation in Europeans.
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.
Sulem
Patrick
P
deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
Gudbjartsson
Daniel F
DF
Stacey
Simon N
SN
Helgason
Agnar
A
Rafnar
Thorunn
T
Magnusson
Kristinn P
KP
Manolescu
Andrei
A
Karason
Ari
A
Palsson
Arnar
A
Thorleifsson
Gudmar
G
Jakobsdottir
Margret
M
Steinberg
Stacy
S
Pálsson
Snaebjörn
S
Jonasson
Fridbert
F
Sigurgeirsson
Bardur
B
Thorisdottir
Kristin
K
Ragnarsson
Rafn
R
Benediktsdottir
Kristrun R
KR
Aben
Katja K
KK
Kiemeney
Lambertus A
LA
Olafsson
Jon H
JH
Gulcher
Jeffrey
J
Kong
Augie
A
Thorsteinsdottir
Unnur
U
Stefansson
Kari
K
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
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