title: Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
abstract: To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10(-17), OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10(-13), OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation.
authors.affiliation: deCODE Genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
authors.forename: Simon N
authors.initials: SN
authors.lastname: Stacey
authors.forename: Patrick
authors.initials: P
authors.lastname: Sulem
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Gudbjartsson
authors.forename: Aslaug
authors.initials: A
authors.lastname: Jonasdottir
authors.forename: Gudmar
authors.initials: G
authors.lastname: Thorleifsson
authors.forename: Sigurjon A
authors.initials: SA
authors.lastname: Gudjonsson
authors.forename: Gisli
authors.initials: G
authors.lastname: Masson
authors.forename: Julius
authors.initials: J
authors.lastname: Gudmundsson
authors.forename: Bardur
authors.initials: B
authors.lastname: Sigurgeirsson
authors.forename: Kristrun R
authors.initials: KR
authors.lastname: Benediktsdottir
authors.forename: Kristin
authors.initials: K
authors.lastname: Thorisdottir
authors.forename: Rafn
authors.initials: R
authors.lastname: Ragnarsson
authors.forename: Victoria
authors.initials: V
authors.lastname: Fuentelsaz
authors.forename: Cristina
authors.initials: C
authors.lastname: Corredera
authors.forename: Matilde
authors.initials: M
authors.lastname: Grasa
authors.forename: Dolores
authors.initials: D
authors.lastname: Planelles
authors.forename: Onofre
authors.initials: O
authors.lastname: Sanmartin
authors.forename: Peter
authors.initials: P
authors.lastname: Rudnai
authors.forename: Eugene
authors.initials: E
authors.lastname: Gurzau
authors.forename: Kvetoslava
authors.initials: K
authors.lastname: Koppova
authors.forename: Kari
authors.initials: K
authors.lastname: Hemminki
authors.forename: Bjørn A
authors.initials: BA
authors.lastname: Nexø
authors.forename: Anne
authors.initials: A
authors.lastname: Tjønneland
authors.forename: Kim
authors.initials: K
authors.lastname: Overvad
authors.forename: Hrefna
authors.initials: H
authors.lastname: Johannsdottir
authors.forename: Hafdis T
authors.initials: HT
authors.lastname: Helgadottir
authors.forename: Unnur
authors.initials: U
authors.lastname: Thorsteinsdottir
authors.forename: Augustine
authors.initials: A
authors.lastname: Kong
authors.forename: Ulla
authors.initials: U
authors.lastname: Vogel
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kumar
authors.forename: Eduardo
authors.initials: E
authors.lastname: Nagore
authors.forename: José I
authors.initials: JI
authors.lastname: Mayordomo
authors.forename: Thorunn
authors.initials: T
authors.lastname: Rafnar
authors.forename: Jon H
authors.initials: JH
authors.lastname: Olafsson
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000954:Antigens, Surface / Q000235:genetics*; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002648:Child; D005260:Female; D020555:GTP-Binding Protein Regulators / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D005854:Germ Cells / Q000378:metabolism; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012878:Skin Neoplasms / Q000235:genetics; D011503:Transglutaminases / Q000235:genetics*; D055815:Young Adult
chemical_list: D000954:Antigens, Surface; D020555:GTP-Binding Protein Regulators; C561241:regulator of G-protein signaling 22, human; C498712:TGM3 protein, human; D011503:Transglutaminases