New common variants affecting susceptibility to basal cell carcinoma

SN Stacey; P Sulem; G Masson; SA Gudjonsson; G Thorleifsson; M Jakobsdottir; A Sigurdsson; DF Gudbjartsson; B Sigurgeirsson; KR Benediktsdottir; K Thorisdottir; R Ragnarsson; D Scherer; K Hemminki; P Rudnai; E Gurzau; K Koppova; R Botella-Estrada; V Soriano; P Juberias; B Saez; Y Gilaberte; V Fuentelsaz; C Corredera; M Grasa; V Hoiom; A Lindblom; JJ Bonenkamp; MM van Rossum; KKH Aben; Esther Vries; M Santinami; MG Di Mauro; A Maurichi; J Wendt; P Hochleitner; H Pehamberger; J Gudmundsson; DN Magnusdottir; S Gretarsdottir; H Holm; V Steinthorsdottir; ML Frigge; T Blondal; J Saemundsdottir; H Bjarnason; K Kristjansson; G Bjornsdottir; I Okamoto; L Rivoltini; M Rodolfo; LA Kiemeney; J Hansson; E Nagore; JI Mayordomo; R Kumar; MR Karagas; HH Nelson; JR Gulcher; T Rafnar; U Thorsteinsdottir; JH Olafsson; A Kong; K Stefansson

doi:10.1038/ng.412

New common variants affecting susceptibility to basal cell carcinoma

SN Stacey, P Sulem, G Masson, SA Gudjonsson, G Thorleifsson, M Jakobsdottir, A Sigurdsson, DF Gudbjartsson, B Sigurgeirsson, KR Benediktsdottir, K Thorisdottir, R Ragnarsson, D Scherer, K Hemminki, P Rudnai, E Gurzau, K Koppova, R Botella-Estrada, V Soriano, P JuberiasB Saez, Y Gilaberte, V Fuentelsaz, C Corredera, M Grasa, V Hoiom, A Lindblom, JJ Bonenkamp, MM van Rossum, KKH Aben, Esther Vries, M Santinami, MG Di Mauro, A Maurichi, J Wendt, P Hochleitner, H Pehamberger, J Gudmundsson, DN Magnusdottir, S Gretarsdottir, H Holm, V Steinthorsdottir, ML Frigge, T Blondal, J Saemundsdottir, H Bjarnason, K Kristjansson, G Bjornsdottir, I Okamoto, L Rivoltini, M Rodolfo, LA Kiemeney, J Hansson, E Nagore, JI Mayordomo, R Kumar, MR Karagas, HH Nelson, JR Gulcher, T Rafnar, U Thorsteinsdottir, JH Olafsson, A Kong, K Stefansson

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Abstract

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 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.

Original language	Undefined/Unknown
Pages (from-to)	909-U69
Journal	Nature Genetics
Volume	41
Issue number	8
DOIs	https://doi.org/10.1038/ng.412
Publication status	Published - 2009

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EMC NIHES-02-65-02

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10.1038/ng.412

http://hdl.handle.net/1765/24580

Cite this

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., ... Stefansson, K. (2009). New common variants affecting susceptibility to basal cell carcinoma. Nature Genetics, 41(8), 909-U69. https://doi.org/10.1038/ng.412

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title = "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)(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 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.",

author = "SN Stacey and P Sulem and G Masson and SA Gudjonsson and G Thorleifsson and M Jakobsdottir and A Sigurdsson and DF Gudbjartsson and B Sigurgeirsson and KR Benediktsdottir and K Thorisdottir and R Ragnarsson and D Scherer and K Hemminki and P Rudnai and E Gurzau and K Koppova and R Botella-Estrada and V Soriano and P Juberias and B Saez and Y Gilaberte and V Fuentelsaz and C Corredera and M Grasa and V Hoiom and A Lindblom and JJ Bonenkamp and {van Rossum}, MM and KKH Aben and Esther Vries and M Santinami and {Di Mauro}, MG and A Maurichi and J Wendt and P Hochleitner and H Pehamberger and J Gudmundsson and DN Magnusdottir and S Gretarsdottir and H Holm and V Steinthorsdottir and ML Frigge and T Blondal and J Saemundsdottir and H Bjarnason and K Kristjansson and G Bjornsdottir and I Okamoto and L Rivoltini and M Rodolfo and LA Kiemeney and J Hansson and E Nagore and JI Mayordomo and R Kumar and MR Karagas and HH Nelson and JR Gulcher and T Rafnar and U Thorsteinsdottir and JH Olafsson and A Kong and K Stefansson",

year = "2009",

doi = "10.1038/ng.412",

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volume = "41",

pages = "909--U69",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

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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, Hoiom, V, Lindblom, A, Bonenkamp, JJ, van Rossum, MM, Aben, KKH, 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 2009, 'New common variants affecting susceptibility to basal cell carcinoma', Nature Genetics, vol. 41, no. 8, pp. 909-U69. https://doi.org/10.1038/ng.412

TY - JOUR

T1 - New common variants affecting susceptibility to basal cell carcinoma

AU - Stacey, SN

AU - Sulem, P

AU - Masson, G

AU - Gudjonsson, SA

AU - Thorleifsson, G

AU - Jakobsdottir, M

AU - Sigurdsson, A

AU - Gudbjartsson, DF

AU - Sigurgeirsson, B

AU - Benediktsdottir, KR

AU - Thorisdottir, K

AU - Ragnarsson, R

AU - Scherer, D

AU - Hemminki, K

AU - Rudnai, P

AU - Gurzau, E

AU - Koppova, K

AU - Botella-Estrada, R

AU - Soriano, V

AU - Juberias, P

AU - Saez, B

AU - Gilaberte, Y

AU - Fuentelsaz, V

AU - Corredera, C

AU - Grasa, M

AU - Hoiom, V

AU - Lindblom, A

AU - Bonenkamp, JJ

AU - van Rossum, MM

AU - Aben, KKH

AU - Vries, Esther

AU - Santinami, M

AU - Di Mauro, MG

AU - Maurichi, A

AU - Wendt, J

AU - Hochleitner, P

AU - Pehamberger, H

AU - Gudmundsson, J

AU - Magnusdottir, DN

AU - Gretarsdottir, S

AU - Holm, H

AU - Steinthorsdottir, V

AU - Frigge, ML

AU - Blondal, T

AU - Saemundsdottir, J

AU - Bjarnason, H

AU - Kristjansson, K

AU - Bjornsdottir, G

AU - Okamoto, I

AU - Rivoltini, L

AU - Rodolfo, M

AU - Kiemeney, LA

AU - Hansson, J

AU - Nagore, E

AU - Mayordomo, JI

AU - Kumar, R

AU - Karagas, MR

AU - Nelson, HH

AU - Gulcher, JR

AU - Rafnar, T

AU - Thorsteinsdottir, U

AU - Olafsson, JH

AU - Kong, A

AU - Stefansson, K

PY - 2009

Y1 - 2009

N2 - 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 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.

AB - 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 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.

U2 - 10.1038/ng.412

DO - 10.1038/ng.412

M3 - Article

C2 - 19578363

SN - 1061-4036

VL - 41

SP - 909-U69

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -