Two newly identified genetic determinants of pigmentation in Europeans.
We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations 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
Jakobsdottir
Margret
M
Steinberg
Stacy
S
Gudjonsson
Sigurjon A
SA
Palsson
Arnar
A
Thorleifsson
Gudmar
G
Pálsson
Snaebjörn
S
Sigurgeirsson
Bardur
B
Thorisdottir
Kristin
K
Ragnarsson
Rafn
R
Benediktsdottir
Kristrun R
KR
Aben
Katja K
KK
Vermeulen
Sita H
SH
Goldstein
Alisa M
AM
Tucker
Margaret A
MA
Kiemeney
Lambertus A
LA
Olafsson
Jon H
JH
Gulcher
Jeffrey
J
Kong
Augustine
A
Thorsteinsdottir
Unnur
U
Stefansson
Kari
K
D054366:Agouti Signaling Protein / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D005127:Eye Color / Q000235:genetics; D005787:Gene Frequency; D008040:Genetic Linkage; D005828:Genetics, Population; D006197:Hair / Q000502:physiology; D006239:Haplotypes; D006801:Humans; D007055:Iceland; D008548:Melanosis / Q000235:genetics; D009426:Netherlands; D016017:Odds Ratio; D010858:Pigmentation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016082:Solar System
C515182:ASIP protein, human; D054366:Agouti Signaling Protein; D015220:Calcium Channels; C530224:TPCN2 protein, human