title: New common variants affecting susceptibility to basal cell carcinoma.
abstract: In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
authors: deCODE genetics, Reykjavik, Iceland. simon.stacey@decode.is
authors: Simon N
authors: SN
authors: Stacey
authors: Patrick
authors: P
authors: Sulem
authors: Gisli
authors: G
authors: Masson
authors: Sigurjon A
authors: SA
authors: Gudjonsson
authors: Gudmar
authors: G
authors: Thorleifsson
authors: Margret
authors: M
authors: Jakobsdottir
authors: Asgeir
authors: A
authors: Sigurdsson
authors: Daniel F
authors: DF
authors: Gudbjartsson
authors: Bardur
authors: B
authors: Sigurgeirsson
authors: Kristrun R
authors: KR
authors: Benediktsdottir
authors: Kristin
authors: K
authors: Thorisdottir
authors: Rafn
authors: R
authors: Ragnarsson
authors: Dominique
authors: D
authors: Scherer
authors: Kari
authors: K
authors: Hemminki
authors: Peter
authors: P
authors: Rudnai
authors: Eugene
authors: E
authors: Gurzau
authors: Kvetoslava
authors: K
authors: Koppova
authors: Rafael
authors: R
authors: Botella-Estrada
authors: Virtudes
authors: V
authors: Soriano
authors: Pablo
authors: P
authors: Juberias
authors: Berta
authors: B
authors: Saez
authors: Yolanda
authors: Y
authors: Gilaberte
authors: Victoria
authors: V
authors: Fuentelsaz
authors: Cristina
authors: C
authors: Corredera
authors: Matilde
authors: M
authors: Grasa
authors: Veronica
authors: V
authors: Höiom
authors: Annika
authors: A
authors: Lindblom
authors: Johannes J
authors: JJ
authors: Bonenkamp
authors: Michelle M
authors: MM
authors: van Rossum
authors: Katja K H
authors: KK
authors: Aben
authors: Esther
authors: E
authors: de Vries
authors: Mario
authors: M
authors: Santinami
authors: Maria G
authors: MG
authors: Di Mauro
authors: Andrea
authors: A
authors: Maurichi
authors: Judith
authors: J
authors: Wendt
authors: Pia
authors: P
authors: Hochleitner
authors: Hubert
authors: H
authors: Pehamberger
authors: Julius
authors: J
authors: Gudmundsson
authors: Droplaug N
authors: DN
authors: Magnusdottir
authors: Solveig
authors: S
authors: Gretarsdottir
authors: Hilma
authors: H
authors: Holm
authors: Valgerdur
authors: V
authors: Steinthorsdottir
authors: Michael L
authors: ML
authors: Frigge
authors: Thorarinn
authors: T
authors: Blondal
authors: Jona
authors: J
authors: Saemundsdottir
authors: Hjördis
authors: H
authors: Bjarnason
authors: Kristleifur
authors: K
authors: Kristjansson
authors: Gyda
authors: G
authors: Bjornsdottir
authors: Ichiro
authors: I
authors: Okamoto
authors: Licia
authors: L
authors: Rivoltini
authors: Monica
authors: M
authors: Rodolfo
authors: Lambertus A
authors: LA
authors: Kiemeney
authors: Johan
authors: J
authors: Hansson
authors: Eduardo
authors: E
authors: Nagore
authors: José I
authors: JI
authors: Mayordomo
authors: Rajiv
authors: R
authors: Kumar
authors: Margaret R
authors: MR
authors: Karagas
authors: Heather H
authors: HH
authors: Nelson
authors: Jeffrey R
authors: JR
authors: Gulcher
authors: Thorunn
authors: T
authors: Rafnar
authors: Unnur
authors: U
authors: Thorsteinsdottir
authors: Jon H
authors: JH
authors: Olafsson
authors: Augustine
authors: A
authors: Kong
authors: Kari
authors: K
authors: Stefansson
mesh_terms: D002280:Basal Cell Carcinoma / Q000150:complications / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003324:Coronary Artery Disease / Q000150:complications / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D053555:Keratin-5 / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008545:Melanoma / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*
chemical_list: C422445:CLPTM1L protein, human; D053555:Keratin-5; D008565:Membrane Proteins; D009363:Neoplasm Proteins