A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

Xifeng Wu; Ghislaine Scelo; Mark P. Purdue; Nathaniel Rothman; Mattias Johansson; Yuanqing Ye; Zhaoming Wang; Diana Zelenika; Lee E. Moore; Christopher G. Wood; Egor Prokhortchouk; Valerie Gaborieau; Kevin B. Jacobs; Wong Ho Chow; Jorge R. Toro; David Zaridze; Jie Lin; Jan Lubinski; Joanna Trubicka; Neonilia Szeszenia-dabrowska; Jolanta Lissowska; Peter Rudnai; Eleonora Fabianova; Dana Mates; Viorel Jinga; Vladimir Bencko; Alena Slamova; Ivana Holcatova; Marie Navratilova; 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; III L. Grubb Robert L.; Heiner Boeing; Paolo Vineis; Françoise Clavel-chapelon; Domenico Palli; Rosario Tumino; Vittorio Krogh; Salvatore Panico; Eric J. Duell; José Ramón Quirós; 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 Tjonneland; Isabelle Romieu; Elio Riboli; Victoria L. Stevens; Michael J. Thun; W. Ryan Diver; Susan M. Gapstur; Paul D. Pharoah; Douglas F. Easton; Demetrius Albanes; Jarmo Virtamo; Lars Vatten; Kristian Hveem; Tony Fletcher; Kvetoslava Koppova; Olivier Cussenot; Geraldine Cancel-tassin; Simone Benhamou; Michelle A. Hildebrandt; Xia Pu; Mario Foglio; Doris Lechner; Amy Hutchinson; Meredith Yeager; Joseph F. Fraumeni; Mark Lathrop; Konstantin G. Skryabin; James D. McKay; Jian Gu; Paul Brennan; Stephen J. Chanock

doi:10.1093/hmg/ddr479

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

Xifeng Wu
, Ghislaine Scelo
, Mark P. Purdue
, Nathaniel Rothman
, Mattias Johansson
, Yuanqing Ye
, Zhaoming Wang
, Diana Zelenika
, Lee E. Moore
, Christopher G. Wood
, Egor Prokhortchouk
, Valerie Gaborieau
, Kevin B. Jacobs
, Wong Ho Chow
, Jorge R. Toro
, David Zaridze
, Jie Lin
, Jan Lubinski
, Joanna Trubicka
, Neonilia Szeszenia-dabrowska

Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Viorel Jinga, Vladimir Bencko, Alena Slamova, Ivana Holcatova, Marie Navratilova, 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, III L. Grubb Robert L., Heiner Boeing, Paolo Vineis, Françoise Clavel-chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Eric J. Duell, José Ramón Quirós, 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 Tjonneland, Isabelle Romieu, Elio Riboli, Victoria L. Stevens, Michael J. Thun, W. Ryan Diver, Susan M. Gapstur, Paul D. Pharoah, Douglas F. Easton, Demetrius Albanes, Jarmo Virtamo, Lars Vatten, Kristian Hveem, Tony Fletcher, Kvetoslava Koppova, Olivier Cussenot, Geraldine Cancel-tassin, Simone Benhamou, Michelle A. Hildebrandt, Xia Pu, Mario Foglio, Doris Lechner, Amy Hutchinson, Meredith Yeager, Joseph F. Fraumeni, Mark Lathrop, Konstantin G. Skryabin, James D. McKay, Jian Gu, Paul Brennan, Stephen J. Chanock

Family , Population and Preventative Medicine

University of Texas MD Anderson Cancer Center
International Agency for Research on Cancer
National Institutes of Health
SAIC
Institut Génomique, Commissariat À l'Énergie Atomique
Russian Academy of Sciences
Blokhin Cancer Research Center
Pomeranian Medical University in Szczecin
Nofer Institute of Occupational Medicine
Maria Sklodowska-Curie Institute of Oncology
Hungarian National Institute of Environmental Health
Regional Authority of Public Health in Banska Bystrica
National Institute of Public Health
T. Burghele Clinic of Urology
Charles University
Masaryk Memorial Cancer Institute
Palacký University Olomouc
University of Illinois at Chicago
Wayne State University
University of Leeds
Leeds Teaching Hospitals NHS Trust
Washington University St. Louis
German Institute of Human Nutrition Potsdam-Rehbruecke
School of Public Health
HuGeF Foundation
Université Paris-Saclay
Research and Prevention Institute-ISPO
Azienda Ospedaliera Civile M.P. Arezzo
IRCCS Fondazione Istituto Nazionale per lo studio e la cura dei tumori - Milano
University of Naples Federico II
Institute Catala Oncologia
Public Health and Health Planning Directorate
Escuela Andaluza de Salud Publica
CIBER Epidemiología y Salud Pública (CIBERESP)
Regional Council of Health and Consumer Affairs
Instituto de Salud Publica, Pamplona
Public Health Division of Gipuzkoa
University of Cambridge
University of Oxford
National Institute of Public Health and the Environment
Imperial College London
Utrecht University
Harvard University
Academy of Athens
German Cancer Research Center
Helmholtz Zentrum München - German Research Center for Environmental Health
Umeå University
Aarhus University
Danish Cancer Society
American Cancer Society
National Institute for Health and Welfare
Norwegian University of Science and Technology
London School of Hygiene and Tropical Medicine
Tenon Hospital
Institut national de la santé et de la recherche médicale
Institute Gustave Roussy
Kurchatov Scientific Center

Research output: Contribution to journal › Article › peer-review

89 Scopus citations

Abstract

Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r² = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10^-10 and P = 6.07 × 10^-9, respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.

Original language	English
Pages (from-to)	456-462
Number of pages	7
Journal	Human Molecular Genetics
Volume	21
Issue number	2
DOIs	https://doi.org/10.1093/hmg/ddr479
State	Published - Jan 2012

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10.1093/hmg/ddr479

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Wu, X., Scelo, G., Purdue, M. P., Rothman, N., Johansson, M., Ye, Y., Wang, Z., Zelenika, D., Moore, L. E., Wood, C. G., Prokhortchouk, E., Gaborieau, V., Jacobs, K. B., Chow, W. H., Toro, J. R., Zaridze, D., Lin, J., Lubinski, J., Trubicka, J., ... Chanock, S. J. (2012). A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Human Molecular Genetics, 21(2), 456-462. https://doi.org/10.1093/hmg/ddr479

@article{6ba84f94fedc4c95935aa1cfa39ad7ef,

title = "A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23",

abstract = "Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r2 = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10-10 and P = 6.07 × 10-9, respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95\% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95\% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.",

author = "Xifeng Wu and Ghislaine Scelo and Purdue, \{Mark P.\} and Nathaniel Rothman and Mattias Johansson and Yuanqing Ye and Zhaoming Wang and Diana Zelenika and Moore, \{Lee E.\} and Wood, \{Christopher G.\} and Egor Prokhortchouk and Valerie Gaborieau and Jacobs, \{Kevin B.\} and Chow, \{Wong Ho\} and Toro, \{Jorge R.\} and David Zaridze and Jie Lin and Jan Lubinski and Joanna Trubicka and Neonilia Szeszenia-dabrowska and Jolanta Lissowska and Peter Rudnai and Eleonora Fabianova and Dana Mates and Viorel Jinga and Vladimir Bencko and Alena Slamova and Ivana Holcatova and Marie Navratilova 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.\}, \{III L.\} and Heiner Boeing and Paolo Vineis and Fran{\c c}oise Clavel-chapelon and Domenico Palli and Rosario Tumino and Vittorio Krogh and Salvatore Panico and Duell, \{Eric J.\} and Quir{\'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 Tjonneland and Isabelle Romieu and Elio Riboli 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 Jarmo Virtamo and Lars Vatten and Kristian Hveem and Tony Fletcher and Kvetoslava Koppova and Olivier Cussenot and Geraldine Cancel-tassin and Simone Benhamou and Hildebrandt, \{Michelle A.\} and Xia Pu and Mario Foglio and Doris Lechner and Amy Hutchinson and Meredith Yeager and Fraumeni, \{Joseph F.\} and Mark Lathrop and Skryabin, \{Konstantin G.\} and McKay, \{James D.\} and Jian Gu and Paul Brennan and Chanock, \{Stephen J.\}",

year = "2012",

month = jan,

doi = "10.1093/hmg/ddr479",

language = "English",

volume = "21",

pages = "456--462",

journal = "Human Molecular Genetics",

issn = "0964-6906",

number = "2",

}

Wu, X, Scelo, G, Purdue, MP, Rothman, N, Johansson, M, Ye, Y, Wang, Z, Zelenika, D, Moore, LE, Wood, CG, Prokhortchouk, E, Gaborieau, V, Jacobs, KB, Chow, WH, Toro, JR, Zaridze, D, Lin, J, Lubinski, J, Trubicka, J, Szeszenia-dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Mates, D, Jinga, V, Bencko, V, Slamova, A, Holcatova, I, Navratilova, M, Janout, V, Boffetta, P, Colt, JS, Davis, FG, Schwartz, KL, Banks, RE, Selby, PJ, Harnden, P, Berg, CD, Hsing, AW, Grubb Robert L., IIIL, Boeing, H, Vineis, P, Clavel-chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, S, Duell, EJ, Quirós, 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, Tjonneland, A, Romieu, I, Riboli, E, Stevens, VL, Thun, MJ, Diver, WR, Gapstur, SM, Pharoah, PD, Easton, DF, Albanes, D, Virtamo, J, Vatten, L, Hveem, K, Fletcher, T, Koppova, K, Cussenot, O, Cancel-tassin, G, Benhamou, S, Hildebrandt, MA, Pu, X, Foglio, M, Lechner, D, Hutchinson, A, Yeager, M, Fraumeni, JF, Lathrop, M, Skryabin, KG, McKay, JD, Gu, J, Brennan, P & Chanock, SJ 2012, 'A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23', Human Molecular Genetics, vol. 21, no. 2, pp. 456-462. https://doi.org/10.1093/hmg/ddr479

TY - JOUR

T1 - A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

AU - Wu, Xifeng

AU - Scelo, Ghislaine

AU - Purdue, Mark P.

AU - Rothman, Nathaniel

AU - Johansson, Mattias

AU - Ye, Yuanqing

AU - Wang, Zhaoming

AU - Zelenika, Diana

AU - Moore, Lee E.

AU - Wood, Christopher G.

AU - Prokhortchouk, Egor

AU - Gaborieau, Valerie

AU - Jacobs, Kevin B.

AU - Chow, Wong Ho

AU - Toro, Jorge R.

AU - Zaridze, David

AU - Lin, Jie

AU - Lubinski, Jan

AU - Trubicka, Joanna

AU - Szeszenia-dabrowska, Neonilia

AU - Lissowska, Jolanta

AU - Rudnai, Peter

AU - Fabianova, Eleonora

AU - Mates, Dana

AU - Jinga, Viorel

AU - Bencko, Vladimir

AU - Slamova, Alena

AU - Holcatova, Ivana

AU - Navratilova, Marie

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., III L.

AU - Boeing, Heiner

AU - Vineis, Paolo

AU - Clavel-chapelon, Françoise

AU - Palli, Domenico

AU - Tumino, Rosario

AU - Krogh, Vittorio

AU - Panico, Salvatore

AU - Duell, Eric J.

AU - Quirós, 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 - Tjonneland, Anne

AU - Romieu, Isabelle

AU - Riboli, Elio

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 - Virtamo, Jarmo

AU - Vatten, Lars

AU - Hveem, Kristian

AU - Fletcher, Tony

AU - Koppova, Kvetoslava

AU - Cussenot, Olivier

AU - Cancel-tassin, Geraldine

AU - Benhamou, Simone

AU - Hildebrandt, Michelle A.

AU - Pu, Xia

AU - Foglio, Mario

AU - Lechner, Doris

AU - Hutchinson, Amy

AU - Yeager, Meredith

AU - Fraumeni, Joseph F.

AU - Lathrop, Mark

AU - Skryabin, Konstantin G.

AU - McKay, James D.

AU - Gu, Jian

AU - Brennan, Paul

AU - Chanock, Stephen J.

PY - 2012/1

Y1 - 2012/1

N2 - Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r2 = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10-10 and P = 6.07 × 10-9, respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.

AB - Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r2 = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10-10 and P = 6.07 × 10-9, respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.

UR - https://www.scopus.com/pages/publications/84855377024

U2 - 10.1093/hmg/ddr479

DO - 10.1093/hmg/ddr479

M3 - Article

C2 - 22010048

AN - SCOPUS:84855377024

SN - 0964-6906

VL - 21

SP - 456

EP - 462

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 2

ER -

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

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