Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

  title={Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits},
  author={Simon N Stacey and Daniel Fannar Gudbjartsson and Patrick Sulem and Jon Th Bergthorsson and Rajiv Kumar and Gudmar Thorleifsson and Asgeir Sigurdsson and Margret Jakobsdottir and Bardur Sigurgeirsson and Kristrun R. Benediktsdottir and Kristin Thorisdottir and Rafn Ragnarsson and Dominique Scherer and P{\'e}ter Rudnai and Eugene Gurzau and Kvetoslava Koppov{\'a} and Veronica H{\"o}iom and Rafael Botella-Estrada and Virtudes Soriano and Pablo Juber{\'i}as and Matilde Grasa and Francisco Jos{\'e} Carapeto and Pilar Tabuenca and Y. Gilaberte and Julius Gudmundsson and Steinunn Thorlacius and Agnar Helgason and Theodora Thorlacius and Aslaug Jonasdottir and Thorarinn Blondal and Sigurjon Axel Gudjonsson and Gudbj{\"o}rn F Jonsson and Jona Saemundsdottir and Kristleifur Kristj{\'a}nsson and Gyda Bjornsdottir and Steinunn G Sveinsdottir and Magali Mouy and Frank Geller and Eduardo Nagore and Jos{\'e} Ignacio Mayordomo and Johan Hansson and Thorunn Rafnar and Augustine Kong and Jon H. Olafsson and Unnur Thorsteinsdottir and K{\'a}ri Stef{\'a}nsson},
  journal={Nature Genetics},
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… CONTINUE READING


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