Stacey SN, Sulem P, Masson G, Gudjonsson SA, Thorleifsson G, Jakobsdottir M,
Sigurdsson A, Gudbjartsson DF, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir
K, Ragnarsson R, Scherer D, Hemminki K, Rudnai P, Gurzau E, Koppova K,
Botella-Estrada R, Soriano V, Juberias P, Saez B, Gilaberte Y, Fuentelsaz V,
Corredera C, Grasa M, Höiom V, Lindblom A, Bonenkamp JJ, van Rossum MM, Aben KK,
de Vries E, Santinami M, Di Mauro MG, Maurichi A, Wendt J, Hochleitner P,
Pehamberger H, Gudmundsson J, Magnusdottir DN, Gretarsdottir S, Holm H,
Steinthorsdottir V, Frigge ML, Blondal T, Saemundsdottir J, Bjarnason H,
Kristjansson K, Bjornsdottir G, Okamoto I, Rivoltini L, Rodolfo M, Kiemeney LA,
Hansson J, Nagore E, Mayordomo JI, Kumar R, Karagas MR, Nelson HH, Gulcher JR,
Rafnar T, Thorsteinsdottir U, Olafsson JH, Kong A, Stefansson K. New common
variants affecting susceptibility to basal cell carcinoma. Nat Genet. 2009
Aug;41(8):909-14. Epub 2009 Jul 5. PubMed PMID: 19578363; PubMed Central PMCID:
This GWAS study finds the variant is associated with increased risk of basal cell carcinoma (BCC) in the European populations studied — cases had an allele frequency of 10.5%, controls a frequency of 8.4%.
This finding had a p-value of 2.1*10^-9, and the authors report a Bonferroni threshold of 1.6 * 10^-7. This threshold is consistent with a p-value of 0.05 and correcting for 317,00 hypotheses (Illumina HumanHap300). Using this, the p-value can be treated as .00067.
The increased risk of disease can be calculated by making some assumptions — that the 8.4% frequency represents the general population (both people who do and do not get BCC), and that the lifetime risk for BCC in Europeans is 30%. Based on these assumptions, this variant has a BCC rate of 37.5% associated with it (an increased risk of 7.5%).
BCC is rarely malignant, it is typically treated because it is invasive and destroys surrounding tissue.