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New common variants affecting susceptibility to basal cell carcinoma.

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 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.

SUBMITTER: Stacey SN 

PROVIDER: S-EPMC2973331 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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New common variants affecting susceptibility to basal cell carcinoma.

Stacey Simon N SN   Sulem Patrick P   Masson Gisli G   Gudjonsson Sigurjon A SA   Thorleifsson Gudmar G   Jakobsdottir Margret M   Sigurdsson Asgeir A   Gudbjartsson Daniel F DF   Sigurgeirsson Bardur B   Benediktsdottir Kristrun R KR   Thorisdottir Kristin K   Ragnarsson Rafn R   Scherer Dominique D   Hemminki Kari K   Rudnai Peter P   Gurzau Eugene E   Koppova Kvetoslava K   Botella-Estrada Rafael R   Soriano Virtudes V   Juberias Pablo P   Saez Berta B   Gilaberte Yolanda Y   Fuentelsaz Victoria V   Corredera Cristina C   Grasa Matilde M   Höiom Veronica V   Lindblom Annika A   Bonenkamp Johannes J JJ   van Rossum Michelle M MM   Aben Katja K H KK   de Vries Esther E   Santinami Mario M   Di Mauro Maria G MG   Maurichi Andrea A   Wendt Judith J   Hochleitner Pia P   Pehamberger Hubert H   Gudmundsson Julius J   Magnusdottir Droplaug N DN   Gretarsdottir Solveig S   Holm Hilma H   Steinthorsdottir Valgerdur V   Frigge Michael L ML   Blondal Thorarinn T   Saemundsdottir Jona J   Bjarnason Hjördis H   Kristjansson Kristleifur K   Bjornsdottir Gyda G   Okamoto Ichiro I   Rivoltini Licia L   Rodolfo Monica M   Kiemeney Lambertus A LA   Hansson Johan J   Nagore Eduardo E   Mayordomo José I JI   Kumar Rajiv R   Karagas Margaret R MR   Nelson Heather H HH   Gulcher Jeffrey R JR   Rafnar Thorunn T   Thorsteinsdottir Unnur U   Olafsson Jon H JH   Kong Augustine A   Stefansson Kari K  

Nature genetics 20090705 8

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 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(-1  ...[more]

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