New common variants affecting susceptibility to basal cell carcinoma
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 varian...
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Published in | Nature genetics Vol. 41; no. 8; pp. 909 - 914 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Nature Publishing Group US
01.08.2009
Nature Publishing Group |
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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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AbstractList | In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC)
1
, 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. 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^sup -9^). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 × 10^sup -9^), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 × 10^sup -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. [PUBLICATION ABSTRACT] Simon Stacey and colleagues report several new susceptibility variants for basal cell carcinoma, including coding variants in KRT5 , a variant at 9p21 near CDKN2A and CDKN2B and a variant at 7q32 near KLF14 . The latter is an imprinted gene, and the effect at this locus is dependent on the parental origin of the risk allele. In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC) 1 , 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. 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. 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 super(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 10 super(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 10 super(-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. In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC) (1), we describe here several new susceptibility variants. SNP rs11170164, encoding a G1 38E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x [10.sup.-9]). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P= 6.9 x [10.sup.-9]), as does rs157935M at 7832 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x [10.sup.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-CLPTMIL locus confers susceptibility to BCC but protects against melanoma. 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. |
Audience | Academic |
Author | Masson, Gisli Thorleifsson, Gudmar Mayordomo, José I Höiom, Veronica Kumar, Rajiv Santinami, Mario Gurzau, Eugene Koppova, Kvetoslava Nelson, Heather H Olafsson, Jon H Jakobsdottir, Margret Rafnar, Thorunn Scherer, Dominique Bjarnason, Hjördis Juberias, Pablo Wendt, Judith Hansson, Johan van Rossum, Michelle M Stefansson, Kari Di Mauro, Maria G Lindblom, Annika Sigurgeirsson, Bardur Aben, Katja K H Sigurdsson, Asgeir Gudmundsson, Julius Gretarsdottir, Solveig Rivoltini, Licia Botella-Estrada, Rafael Stacey, Simon N Thorisdottir, Kristin Bjornsdottir, Gyda Hemminki, Kari Bonenkamp, Johannes J Maurichi, Andrea Gulcher, Jeffrey R Pehamberger, Hubert Thorsteinsdottir, Unnur Soriano, Virtudes Okamoto, Ichiro Grasa, Matilde de Vries, Esther Karagas, Margaret R Steinthorsdottir, Valgerdur Gudbjartsson, Daniel F Rudnai, Peter Benediktsdottir, Kristrun R Holm, Hilma Nagore, Eduardo Rodolfo, Monica Kong, Augustine Saez, Berta Ragnarsson, Rafn Sulem, Patrick Fuentelsaz, Victoria Corredera, Cristina Saemundsdottir, Jona Kristjansson, Kristleifur Frigge, |
AuthorAffiliation | 5 Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg, Germany 12 Health Science Institute, Nanotechnology Institute of Aragon, Zaragoza, Spain 1 deCODE genetics, Reykjavik, Iceland 18 Department of Epidemiology, Biostatistics and Health Technology Assessment, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 24 Immunotherapy of Human Tumours Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy 19 Comprehensive Cancer Centre IKO, Nijmegen, The Netherlands 9 Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain 15 Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden 27 Division of Medical Oncology University Hospital, Zaragoza, Spain 16 Department of Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Department of Dermatology, Landspitali, University of Iceland, Reykjavik, Iceland 4 Department of Plastic Surgery, Landspitali, University of Iceland, Reykjavik, |
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Molecular Genetic Epidemiology, German Cancer Research Centre |
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CODEN | NGENEC |
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Snippet | In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility... Simon Stacey and colleagues report several new susceptibility variants for basal cell carcinoma, including coding variants in KRT5 , a variant at 9p21 near... In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC) (1), we describe here several new... In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC) 1 , we describe here several new susceptibility... |
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SubjectTerms | Agriculture Animal Genetics and Genomics Basal cell carcinoma Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Cancer Research Carcinoma, Basal Cell - complications Carcinoma, Basal Cell - genetics Carcinoma, Squamous Cell - genetics Cells Chromosomes, Human, Pair 7 - genetics Chromosomes, Human, Pair 9 - genetics Coronary Artery Disease - complications Coronary Artery Disease - genetics Cyclin-dependent kinases Dermatology Disease susceptibility Environmental health Fundamental and applied biological sciences. Psychology Gene Function Genetic aspects Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Health aspects Human Genetics Humans Keratin Keratin-5 - genetics letter Linkage Disequilibrium - genetics Medical sciences Medicin och hälsovetenskap Melanoma Melanoma - pathology Membrane Proteins - genetics Molecular Sequence Data Multivariate analysis Neoplasm Proteins - genetics Pigmentation Polymorphism, Single Nucleotide - genetics Risk factors Sample size Single nucleotide polymorphisms Skin Neoplasms - complications Skin Neoplasms - genetics Tumors of the skin and soft tissue. Premalignant lesions Ultraviolet radiation |
Title | New common variants affecting susceptibility to basal cell carcinoma |
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