New common variants affecting susceptibility to basal cell carcinoma

SN Stacey, P Sulem, G Masson, SA Gudjonsson… - Nature …, 2009 - nature.com
SN Stacey, P Sulem, G Masson, SA Gudjonsson, G Thorleifsson, M Jakobsdottir…
Nature genetics, 2009nature.com
In 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× 10− 9). A variant at 9p21 near CDKN2A and CDKN2B also confers
susceptibility to BCC (rs2151280 [C]; OR= 1.19, P= 6.9× 10− 9), as does rs157935 [T] at
7q32 near the imprinted gene KLF14 (OR= 1.23, P= 5.7× 10− 10). The effect of rs157935 [T] …
Abstract
In 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 × 10−9). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 × 10−9), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 × 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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