Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Mark P. Purdue; Mattias Johansson; Diana Zelenika; Jorge R. Toro; Ghislaine Scelo; Lee E. Moore; Egor Prokhortchouk; Xifeng Wu; Lambertus A. Kiemeney; Valerie Gaborieau; Kevin B. Jacobs; Wong Ho Chow; David Zaridze; Vsevolod Matveev; Jan Lubinski; Joanna Trubicka; Neonila Szeszenia-Dabrowska; Jolanta Lissowska; Péter Rudnai; Eleonora Fabianova; Alexandru Bucur; Vladimir Bencko; Lenka Foretova; Vladimir Janout; Paolo Boffetta; Joanne S. Colt; Faith G. Davis; Kendra L. Schwartz; Rosamonde E. Banks; Peter J. Selby; Patricia Harnden; Christine D. Berg; Ann W. Hsing; Robert L. Grubb; Heiner Boeing; Paolo Vineis; Franc̃oise Clavel-Chapelon; Domenico Palli; Rosario Tumino; Vittorio Krogh; Salvatore Panico; Eric J. Duell; José Ramón Quiós; Maria José Sanchez; Carmen Navarro; Eva Ardanaz; Miren Dorronsoro; Kay Tee Khaw; Naomi E. Allen; H. Bas Bueno-De-Mesquita; Petra H.M. Peeters; Dimitrios Trichopoulos; Jakob Linseisen; Börje Ljungberg; Kim Overvad; Anne Tjønneland; Isabelle Romieu; Elio Riboli; Anush Mukeria; Oxana Shangina; Victoria L. Stevens; Michael J. Thun; W. Ryan Diver; Susan M. Gapstur; Paul D. Pharoah; Douglas F. Easton; Demetrius Albanes; Stephanie J. Weinstein; Jarmo Virtamo; Lars Vatten; Kristian Hveem; Inger Njølstad; Grethe S. Tell; Camilla Stoltenberg; Rajiv Kumar; Kvetoslava Koppova; Olivier Cussenot; Simone Benhamou; Egbert Oosterwijk; Sita H. Vermeulen; Katja K.H. Aben; Saskia L. Van Der Marel; Yuanqing Ye; Christopher G. Wood; Xia Pu; Alexander M. Mazur; Eugenia S. Boulygina; Nikolai N. Chekanov; Mario Foglio; Doris Lechner; Ivo Gut; Simon Heath; Hélène Blanche; Amy Hutchinson; Gilles Thomas; Zhaoming Wang; Meredith Yeager; Joseph F. Fraumeni; Konstantin G. Skryabin; James D. McKay; Nathaniel Rothman; Stephen J. Chanock; Mark Lathrop; Paul Brennan

doi:10.1038/ng.723

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Mark P. Purdue, Mattias Johansson, Diana Zelenika, Jorge R. Toro, Ghislaine Scelo, Lee E. Moore, Egor Prokhortchouk, Xifeng Wu, Lambertus A. Kiemeney, Valerie Gaborieau, Kevin B. Jacobs, Wong Ho Chow, David Zaridze, Vsevolod Matveev, Jan Lubinski, Joanna Trubicka, Neonila Szeszenia-Dabrowska, Jolanta Lissowska, Péter Rudnai, Eleonora FabianovaAlexandru Bucur, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Paolo Boffetta, Joanne S. Colt, Faith G. Davis, Kendra L. Schwartz, Rosamonde E. Banks, Peter J. Selby, Patricia Harnden, Christine D. Berg, Ann W. Hsing, Robert L. Grubb, Heiner Boeing, Paolo Vineis, Franc̃oise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Eric J. Duell, José Ramón Quiós, Maria José Sanchez, Carmen Navarro, Eva Ardanaz, Miren Dorronsoro, Kay Tee Khaw, Naomi E. Allen, H. Bas Bueno-De-Mesquita, Petra H.M. Peeters, Dimitrios Trichopoulos, Jakob Linseisen, Börje Ljungberg, Kim Overvad, Anne Tjønneland, Isabelle Romieu, Elio Riboli, Anush Mukeria, Oxana Shangina, Victoria L. Stevens, Michael J. Thun, W. Ryan Diver, Susan M. Gapstur, Paul D. Pharoah, Douglas F. Easton, Demetrius Albanes, Stephanie J. Weinstein, Jarmo Virtamo, Lars Vatten, Kristian Hveem, Inger Njølstad, Grethe S. Tell, Camilla Stoltenberg, Rajiv Kumar, Kvetoslava Koppova, Olivier Cussenot, Simone Benhamou, Egbert Oosterwijk, Sita H. Vermeulen, Katja K.H. Aben, Saskia L. Van Der Marel, Yuanqing Ye, Christopher G. Wood, Xia Pu, Alexander M. Mazur, Eugenia S. Boulygina, Nikolai N. Chekanov, Mario Foglio, Doris Lechner, Ivo Gut, Simon Heath, Hélène Blanche, Amy Hutchinson, Gilles Thomas, Zhaoming Wang, Meredith Yeager, Joseph F. Fraumeni, Konstantin G. Skryabin, James D. McKay, Nathaniel Rothman, Stephen J. Chanock, Mark Lathrop, Paul Brennan

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Abstract

We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r 2 = 0.99 in controls), rs11894252 (P = 1.8 ×- 10^-8) and rs7579899 (P = 2.3 ×- 10^-9), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 ×- 10^-14). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 ×- 10 ^-8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.

Original language	English
Pages (from-to)	60-65
Number of pages	6
Journal	Nature Genetics
Volume	43
Issue number	1
DOIs	https://doi.org/10.1038/ng.723
Publication status	Published - Jan 2011

Bibliographical note

Funding Information:
The authors thank all of the participants who took part in this research and the funders and support staff who made this study possible. Funding for the genome-wide genotyping was provided by the French Institut National du Cancer (INCa) for those studies coordinated by IARC/CNG, and by the intramural research program of the National Cancer Institute (NCI), US National Institutes of Health (NIH) for those studies coordinated by the NCI. Additional acknowledgments can be found in the Supplementary Note.

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Purdue, M. P., Johansson, M., Zelenika, D., Toro, J. R., Scelo, G., Moore, L. E., Prokhortchouk, E., Wu, X., Kiemeney, L. A., Gaborieau, V., Jacobs, K. B., Chow, W. H., Zaridze, D., Matveev, V., Lubinski, J., Trubicka, J., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., ... Brennan, P. (2011). Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nature Genetics, 43(1), 60-65. https://doi.org/10.1038/ng.723

@article{238dd71e3d834ec9976273d57b764590,

title = "Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3",

abstract = "We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r 2 = 0.99 in controls), rs11894252 (P = 1.8 ×- 10-8) and rs7579899 (P = 2.3 ×- 10-9), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 ×- 10-14). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 ×- 10 -8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.",

author = "Purdue, {Mark P.} and Mattias Johansson and Diana Zelenika and Toro, {Jorge R.} and Ghislaine Scelo and Moore, {Lee E.} and Egor Prokhortchouk and Xifeng Wu and Kiemeney, {Lambertus A.} and Valerie Gaborieau and Jacobs, {Kevin B.} and Chow, {Wong Ho} and David Zaridze and Vsevolod Matveev and Jan Lubinski and Joanna Trubicka and Neonila Szeszenia-Dabrowska and Jolanta Lissowska and P{\'e}ter Rudnai and Eleonora Fabianova and Alexandru Bucur and Vladimir Bencko and Lenka Foretova and Vladimir Janout and Paolo Boffetta and Colt, {Joanne S.} and Davis, {Faith G.} and Schwartz, {Kendra L.} and Banks, {Rosamonde E.} and Selby, {Peter J.} and Patricia Harnden and Berg, {Christine D.} and Hsing, {Ann W.} and Grubb, {Robert L.} and Heiner Boeing and Paolo Vineis and Fran{\~c}oise Clavel-Chapelon and Domenico Palli and Rosario Tumino and Vittorio Krogh and Salvatore Panico and Duell, {Eric J.} and Qui{\'o}s, {Jos{\'e} Ram{\'o}n} and Sanchez, {Maria Jos{\'e}} and Carmen Navarro and Eva Ardanaz and Miren Dorronsoro and Khaw, {Kay Tee} and Allen, {Naomi E.} and Bueno-De-Mesquita, {H. Bas} and Peeters, {Petra H.M.} and Dimitrios Trichopoulos and Jakob Linseisen and B{\"o}rje Ljungberg and Kim Overvad and Anne Tj{\o}nneland and Isabelle Romieu and Elio Riboli and Anush Mukeria and Oxana Shangina and Stevens, {Victoria L.} and Thun, {Michael J.} and Diver, {W. Ryan} and Gapstur, {Susan M.} and Pharoah, {Paul D.} and Easton, {Douglas F.} and Demetrius Albanes and Weinstein, {Stephanie J.} and Jarmo Virtamo and Lars Vatten and Kristian Hveem and Inger Nj{\o}lstad and Tell, {Grethe S.} and Camilla Stoltenberg and Rajiv Kumar and Kvetoslava Koppova and Olivier Cussenot and Simone Benhamou and Egbert Oosterwijk and Vermeulen, {Sita H.} and Aben, {Katja K.H.} and {Van Der Marel}, {Saskia L.} and Yuanqing Ye and Wood, {Christopher G.} and Xia Pu and Mazur, {Alexander M.} and Boulygina, {Eugenia S.} and Chekanov, {Nikolai N.} and Mario Foglio and Doris Lechner and Ivo Gut and Simon Heath and H{\'e}l{\`e}ne Blanche and Amy Hutchinson and Gilles Thomas and Zhaoming Wang and Meredith Yeager and Fraumeni, {Joseph F.} and Skryabin, {Konstantin G.} and McKay, {James D.} and Nathaniel Rothman and Chanock, {Stephen J.} and Mark Lathrop and Paul Brennan",

note = "Funding Information: The authors thank all of the participants who took part in this research and the funders and support staff who made this study possible. Funding for the genome-wide genotyping was provided by the French Institut National du Cancer (INCa) for those studies coordinated by IARC/CNG, and by the intramural research program of the National Cancer Institute (NCI), US National Institutes of Health (NIH) for those studies coordinated by the NCI. Additional acknowledgments can be found in the Supplementary Note.",

year = "2011",

month = jan,

doi = "10.1038/ng.723",

language = "English",

volume = "43",

pages = "60--65",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "1",

}

Purdue, MP, Johansson, M, Zelenika, D, Toro, JR, Scelo, G, Moore, LE, Prokhortchouk, E, Wu, X, Kiemeney, LA, Gaborieau, V, Jacobs, KB, Chow, WH, Zaridze, D, Matveev, V, Lubinski, J, Trubicka, J, Szeszenia-Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Foretova, L, Janout, V, Boffetta, P, Colt, JS, Davis, FG, Schwartz, KL, Banks, RE, Selby, PJ, Harnden, P, Berg, CD, Hsing, AW, Grubb, RL, Boeing, H, Vineis, P, Clavel-Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, S, Duell, EJ, Quiós, JR, Sanchez, MJ, Navarro, C, Ardanaz, E, Dorronsoro, M, Khaw, KT, Allen, NE, Bueno-De-Mesquita, HB, Peeters, PHM, Trichopoulos, D, Linseisen, J, Ljungberg, B, Overvad, K, Tjønneland, A, Romieu, I, Riboli, E, Mukeria, A, Shangina, O, Stevens, VL, Thun, MJ, Diver, WR, Gapstur, SM, Pharoah, PD, Easton, DF, Albanes, D, Weinstein, SJ, Virtamo, J, Vatten, L, Hveem, K, Njølstad, I, Tell, GS, Stoltenberg, C, Kumar, R, Koppova, K, Cussenot, O, Benhamou, S, Oosterwijk, E, Vermeulen, SH, Aben, KKH, Van Der Marel, SL, Ye, Y, Wood, CG, Pu, X, Mazur, AM, Boulygina, ES, Chekanov, NN, Foglio, M, Lechner, D, Gut, I, Heath, S, Blanche, H, Hutchinson, A, Thomas, G, Wang, Z, Yeager, M, Fraumeni, JF, Skryabin, KG, McKay, JD, Rothman, N, Chanock, SJ, Lathrop, M & Brennan, P 2011, 'Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3', Nature Genetics, vol. 43, no. 1, pp. 60-65. https://doi.org/10.1038/ng.723

TY - JOUR

T1 - Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

AU - Purdue, Mark P.

AU - Johansson, Mattias

AU - Zelenika, Diana

AU - Toro, Jorge R.

AU - Scelo, Ghislaine

AU - Moore, Lee E.

AU - Prokhortchouk, Egor

AU - Wu, Xifeng

AU - Kiemeney, Lambertus A.

AU - Gaborieau, Valerie

AU - Jacobs, Kevin B.

AU - Chow, Wong Ho

AU - Zaridze, David

AU - Matveev, Vsevolod

AU - Lubinski, Jan

AU - Trubicka, Joanna

AU - Szeszenia-Dabrowska, Neonila

AU - Lissowska, Jolanta

AU - Rudnai, Péter

AU - Fabianova, Eleonora

AU - Bucur, Alexandru

AU - Bencko, Vladimir

AU - Foretova, Lenka

AU - Janout, Vladimir

AU - Boffetta, Paolo

AU - Colt, Joanne S.

AU - Davis, Faith G.

AU - Schwartz, Kendra L.

AU - Banks, Rosamonde E.

AU - Selby, Peter J.

AU - Harnden, Patricia

AU - Berg, Christine D.

AU - Hsing, Ann W.

AU - Grubb, Robert L.

AU - Boeing, Heiner

AU - Vineis, Paolo

AU - Clavel-Chapelon, Franc̃oise

AU - Palli, Domenico

AU - Tumino, Rosario

AU - Krogh, Vittorio

AU - Panico, Salvatore

AU - Duell, Eric J.

AU - Quiós, José Ramón

AU - Sanchez, Maria José

AU - Navarro, Carmen

AU - Ardanaz, Eva

AU - Dorronsoro, Miren

AU - Khaw, Kay Tee

AU - Allen, Naomi E.

AU - Bueno-De-Mesquita, H. Bas

AU - Peeters, Petra H.M.

AU - Trichopoulos, Dimitrios

AU - Linseisen, Jakob

AU - Ljungberg, Börje

AU - Overvad, Kim

AU - Tjønneland, Anne

AU - Romieu, Isabelle

AU - Riboli, Elio

AU - Mukeria, Anush

AU - Shangina, Oxana

AU - Stevens, Victoria L.

AU - Thun, Michael J.

AU - Diver, W. Ryan

AU - Gapstur, Susan M.

AU - Pharoah, Paul D.

AU - Easton, Douglas F.

AU - Albanes, Demetrius

AU - Weinstein, Stephanie J.

AU - Virtamo, Jarmo

AU - Vatten, Lars

AU - Hveem, Kristian

AU - Njølstad, Inger

AU - Tell, Grethe S.

AU - Stoltenberg, Camilla

AU - Kumar, Rajiv

AU - Koppova, Kvetoslava

AU - Cussenot, Olivier

AU - Benhamou, Simone

AU - Oosterwijk, Egbert

AU - Vermeulen, Sita H.

AU - Aben, Katja K.H.

AU - Van Der Marel, Saskia L.

AU - Ye, Yuanqing

AU - Wood, Christopher G.

AU - Pu, Xia

AU - Mazur, Alexander M.

AU - Boulygina, Eugenia S.

AU - Chekanov, Nikolai N.

AU - Foglio, Mario

AU - Lechner, Doris

AU - Gut, Ivo

AU - Heath, Simon

AU - Blanche, Hélène

AU - Hutchinson, Amy

AU - Thomas, Gilles

AU - Wang, Zhaoming

AU - Yeager, Meredith

AU - Fraumeni, Joseph F.

AU - Skryabin, Konstantin G.

AU - McKay, James D.

AU - Rothman, Nathaniel

AU - Chanock, Stephen J.

AU - Lathrop, Mark

AU - Brennan, Paul

N1 - Funding Information: The authors thank all of the participants who took part in this research and the funders and support staff who made this study possible. Funding for the genome-wide genotyping was provided by the French Institut National du Cancer (INCa) for those studies coordinated by IARC/CNG, and by the intramural research program of the National Cancer Institute (NCI), US National Institutes of Health (NIH) for those studies coordinated by the NCI. Additional acknowledgments can be found in the Supplementary Note.

PY - 2011/1

Y1 - 2011/1

N2 - We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r 2 = 0.99 in controls), rs11894252 (P = 1.8 ×- 10-8) and rs7579899 (P = 2.3 ×- 10-9), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 ×- 10-14). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 ×- 10 -8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.

AB - We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r 2 = 0.99 in controls), rs11894252 (P = 1.8 ×- 10-8) and rs7579899 (P = 2.3 ×- 10-9), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 ×- 10-14). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 ×- 10 -8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.

UR - http://www.scopus.com/inward/record.url?scp=78651257523&partnerID=8YFLogxK

U2 - 10.1038/ng.723

DO - 10.1038/ng.723

M3 - Article

C2 - 21131975

AN - SCOPUS:78651257523

SN - 1061-4036

VL - 43

SP - 60

EP - 65

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

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Bibliographical note

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