New basal cell carcinoma susceptibility loci

S.N. Stacey; H. Helgason; S.A. Gudjonsson; G. Thorleifsson; F. Zink; A. Sigurdsson; B. Kehr; J. Gudmundsson; P. Sulem; B. Sigurgeirsson; K.R. Benediktsdottir; K. Thorisdottir; R. Ragnarsson; V. Fuentelsaz; C. Corredera; Y. Gilaberte; M. Grasa; D. Planelles; O. Sanmartin; P. Rudnai; E. Gurzau; K. Koppova; B.A. Nexo; A. Tjonneland; K. Overvad; J.G. Jonasson; L. Tryggvadottir; H. Johannsdottir; A.M. Kristinsdottir; H. Stefansson; G. Masson; O.T. Magnusson; B.V. Halldorsson; A. Kong; T. Rafnar; U. Thorsteinsdottir; Ulla Birgitte Vogel; R. Kumar; E. Nagore; J.I. Mayordomo; D.F. Gudbjartsson; J.H. Olafsson; K. Stefansson

doi:10.1038/ncomms7825

New basal cell carcinoma susceptibility loci

S.N. Stacey
, H. Helgason
, S.A. Gudjonsson
, G. Thorleifsson
, F. Zink
, A. Sigurdsson
, B. Kehr
, J. Gudmundsson
, P. Sulem
, B. Sigurgeirsson
, K.R. Benediktsdottir
, K. Thorisdottir
, R. Ragnarsson
, V. Fuentelsaz
, C. Corredera
, Y. Gilaberte
, M. Grasa
, D. Planelles
, O. Sanmartin
, P. Rudnai

E. Gurzau, K. Koppova, B.A. Nexo, A. Tjonneland, K. Overvad, J.G. Jonasson, L. Tryggvadottir, H. Johannsdottir, A.M. Kristinsdottir, H. Stefansson, G. Masson, O.T. Magnusson, B.V. Halldorsson, A. Kong, T. Rafnar, U. Thorsteinsdottir, Ulla Birgitte Vogel, R. Kumar, E. Nagore, J.I. Mayordomo, D.F. Gudbjartsson, J.H. Olafsson, K. Stefansson

Kemi og mikrobiologi

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Abstract

[Open access]In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 x 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 x 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 x 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 x 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained

Originalsprog	Dansk
Tidsskrift	Nature Communications
Vol/bind	6
Sider (fra-til)	6825-
ISSN	2041-1723
DOI	https://doi.org/10.1038/ncomms7825
Status	Udgivet - 2015

Adgang til dokumentet

10.1038/ncomms7825

Citationsformater

Stacey, S. N., Helgason, H., Gudjonsson, S. A., Thorleifsson, G., Zink, F., Sigurdsson, A., Kehr, B., Gudmundsson, J., Sulem, P., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Fuentelsaz, V., Corredera, C., Gilaberte, Y., Grasa, M., Planelles, D., Sanmartin, O., ... Stefansson, K. (2015). New basal cell carcinoma susceptibility loci. Nature Communications, 6, 6825-. https://doi.org/10.1038/ncomms7825

@article{326d931371634ee4b5472cfaa457dc14,

title = "New basal cell carcinoma susceptibility loci",

abstract = "[Open access]In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 x 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 x 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 x 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 x 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained",

author = "S.N. Stacey and H. Helgason and S.A. Gudjonsson and G. Thorleifsson and F. Zink and A. Sigurdsson and B. Kehr and J. Gudmundsson and P. Sulem and B. Sigurgeirsson and K.R. Benediktsdottir and K. Thorisdottir and R. Ragnarsson and V. Fuentelsaz and C. Corredera and Y. Gilaberte and M. Grasa and D. Planelles and O. Sanmartin and P. Rudnai and E. Gurzau and K. Koppova and B.A. Nexo and A. Tjonneland and K. Overvad and J.G. Jonasson and L. Tryggvadottir and H. Johannsdottir and A.M. Kristinsdottir and H. Stefansson and G. Masson and O.T. Magnusson and B.V. Halldorsson and A. Kong and T. Rafnar and U. Thorsteinsdottir and Vogel, \{Ulla Birgitte\} and R. Kumar and E. Nagore and J.I. Mayordomo and D.F. Gudbjartsson and J.H. Olafsson and K. Stefansson",

note = "SUBMISSIONYEAR:2015",

year = "2015",

doi = "10.1038/ncomms7825",

language = "Dansk",

volume = "6",

pages = "6825--",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Research",

}

Stacey, SN, Helgason, H, Gudjonsson, SA, Thorleifsson, G, Zink, F, Sigurdsson, A, Kehr, B, Gudmundsson, J, Sulem, P, Sigurgeirsson, B, Benediktsdottir, KR, Thorisdottir, K, Ragnarsson, R, Fuentelsaz, V, Corredera, C, Gilaberte, Y, Grasa, M, Planelles, D, Sanmartin, O, Rudnai, P, Gurzau, E, Koppova, K, Nexo, BA, Tjonneland, A, Overvad, K, Jonasson, JG, Tryggvadottir, L, Johannsdottir, H, Kristinsdottir, AM, Stefansson, H, Masson, G, Magnusson, OT, Halldorsson, BV, Kong, A, Rafnar, T, Thorsteinsdottir, U, Vogel, UB, Kumar, R, Nagore, E, Mayordomo, JI, Gudbjartsson, DF, Olafsson, JH & Stefansson, K 2015, 'New basal cell carcinoma susceptibility loci', Nature Communications, bind 6, s. 6825-. https://doi.org/10.1038/ncomms7825

TY - JOUR

T1 - New basal cell carcinoma susceptibility loci

AU - Stacey, S.N.

AU - Helgason, H.

AU - Gudjonsson, S.A.

AU - Thorleifsson, G.

AU - Zink, F.

AU - Sigurdsson, A.

AU - Kehr, B.

AU - Gudmundsson, J.

AU - Sulem, P.

AU - Sigurgeirsson, B.

AU - Benediktsdottir, K.R.

AU - Thorisdottir, K.

AU - Ragnarsson, R.

AU - Fuentelsaz, V.

AU - Corredera, C.

AU - Gilaberte, Y.

AU - Grasa, M.

AU - Planelles, D.

AU - Sanmartin, O.

AU - Rudnai, P.

AU - Gurzau, E.

AU - Koppova, K.

AU - Nexo, B.A.

AU - Tjonneland, A.

AU - Overvad, K.

AU - Jonasson, J.G.

AU - Tryggvadottir, L.

AU - Johannsdottir, H.

AU - Kristinsdottir, A.M.

AU - Stefansson, H.

AU - Masson, G.

AU - Magnusson, O.T.

AU - Halldorsson, B.V.

AU - Kong, A.

AU - Rafnar, T.

AU - Thorsteinsdottir, U.

AU - Vogel, Ulla Birgitte

AU - Kumar, R.

AU - Nagore, E.

AU - Mayordomo, J.I.

AU - Gudbjartsson, D.F.

AU - Olafsson, J.H.

AU - Stefansson, K.

N1 - SUBMISSIONYEAR:2015

PY - 2015

Y1 - 2015

N2 - [Open access]In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 x 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 x 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 x 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 x 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained

AB - [Open access]In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 x 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 x 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 x 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 x 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained

U2 - 10.1038/ncomms7825

DO - 10.1038/ncomms7825

M3 - Tidsskriftartikel

SN - 2041-1723

VL - 6

SP - 6825-

JO - Nature Communications

JF - Nature Communications

ER -