New common variants affecting susceptibility to basal cell carcinoma.
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AuthorsStacey, Simon N
Gudjonsson, Sigurjon A
Gudbjartsson, Daniel F
Benediktsdottir, Kristrun R
Bonenkamp, Johannes J
van Rossum, Michelle M
Aben, Katja K H
de Vries, Esther
Di Mauro, Maria G
Magnusdottir, Droplaug N
Frigge, Michael L
Kiemeney, Lambertus A
Mayordomo, José I
Karagas, Margaret R
Nelson, Heather H
Gulcher, Jeffrey R
Olafsson, Jon H
MetadataShow full item record
CitationNat. Genet. 2009, 41(8):909-14
AbstractIn 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.
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- Issue date: 2008 Jul