Letter abstract
Nature Genetics 40, 1313 - 1318 (2008)
Published online: 12 October 2008 | doi:10.1038/ng.234
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
Simon N Stacey1, Daniel F Gudbjartsson1, Patrick Sulem1, Jon T Bergthorsson1, Rajiv Kumar2, Gudmar Thorleifsson1, Asgeir Sigurdsson1, Margret Jakobsdottir1, Bardur Sigurgeirsson3, Kristrun R Benediktsdottir3, Kristin Thorisdottir3, Rafn Ragnarsson3, Dominique Scherer2, Peter Rudnai4, Eugene Gurzau5, Kvetoslava Koppova6, Veronica Höiom7, Rafael Botella-Estrada8, Virtudes Soriano9, Pablo Juberías10, Matilde Grasa10, Francisco J Carapeto10, Pilar Tabuenca11, Yolanda Gilaberte12, Julius Gudmundsson1, Steinunn Thorlacius1, Agnar Helgason1, Theodora Thorlacius1, Aslaug Jonasdottir1, Thorarinn Blondal1, Sigurjon A Gudjonsson1, Gudbjörn F Jonsson1, Jona Saemundsdottir1, Kristleifur Kristjansson1, Gyda Bjornsdottir1, Steinunn G Sveinsdottir13, Magali Mouy1, Frank Geller1, Eduardo Nagore8, José I Mayordomo14, Johan Hansson7, Thorunn Rafnar1, Augustine Kong1, Jon H Olafsson3, Unnur Thorsteinsdottir1 & Kari Stefansson1
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 
10-12) and rs801114 on 1q42 (OR = 1.28, P = 5.9 10-12). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.
- deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
- Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg, D-69120, Germany.
- Departments of Dermatology, Pathology and Plastic Surgery, Landspitali-University Hospital, 101 Reykjavik, Iceland.
- National Institute of Environmental Health, Budapest, H-1450, Hungary.
- Environmental Health Centre, Cluj, RO-Cluj-Napoca, Romania.
- State Health Institute, Banska Bystrica, SK-975 56, Slovakia.
- Department of Oncology Pathology, Cancer Centre Karolinska, Karolinska Institutet, Karolinska University Hospital Solna Stockholm, S-171 76, Sweden.
- Department of Dermatology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
- Department of Oncology, Instituto Valenciano de Oncologia, 46009, Valencia, Spain.
- Division of Dermatology, University Hospital, 50009, Zaragoza, Spain.
- Health Science Institute, 50009, Zaragoza, Spain.
- Division of Dermatology. San Jorge General Hospital, 22004, Huesca, Spain.
- Clinical Research Centre, 110 Reykjavik, Iceland.
- Division of Medical Oncology, University Hospital, 50009, Zaragoza, Spain.
Correspondence to: Unnur Thorsteinsdottir1 e-mail: unnur.thorsteinsdottir@decode.is
Correspondence to: Kari Stefansson1 e-mail: kari.stefansson@decode.is
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