title: Two newly identified genetic determinants of pigmentation in Europeans.
abstract: 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.
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: Margret
authors.initials: M
authors.lastname: Jakobsdottir
authors.forename: Stacy
authors.initials: S
authors.lastname: Steinberg
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Arnar
authors.initials: A
authors.lastname: Palsson
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: Snaebjörn
authors.initials: S
authors.lastname: Pálsson
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: Sita H
authors.initials: SH
authors.lastname: Vermeulen
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Tucker
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: Augustine
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: 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
chemical_list: C515182:ASIP protein, human; D054366:Agouti Signaling Protein; D015220:Calcium Channels; C530224:TPCN2 protein, human