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; Robert L Grubb; 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 Tjønneland; 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

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

Journal article

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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, …

Human molecular genetics, Vol.21(2), pp.456-462

2012-01-15

DOI: https://doi.org/10.1093/hmg/ddr479

PMCID: PMC3276284

PMID: 22010048

Abstract

Association Studies

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 ( r 2 = 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.

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Collaboration types: Industry collaboration; Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.233 Pelvic & Renal Disorders; 1.233.501 Renal Cell Carcinoma
Web Of Science research areas: Biochemistry & Molecular Biology; Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23
Creators: Xifeng Wu - Division of Cancer Prevention and Population Sciences
Ghislaine Scelo - International Agency for Research on Cancer (IARC)
Mark P Purdue - , National Cancer Institute
Nathaniel Rothman - , National Cancer Institute
Mattias Johansson - International Agency for Research on Cancer (IARC)
Yuanqing Ye - Division of Cancer Prevention and Population Sciences
Zhaoming Wang - , National Cancer Institute
Diana Zelenika - Commissariat à l’énergie Atomique, Institut Genomique, Centre National de Genotypage
Lee E Moore - , National Cancer Institute
Christopher G Wood - The University of Texas M.D. Anderson Cancer Center
Egor Prokhortchouk - Center “Bioengineering” of Russian Academy of Sciences
Valerie Gaborieau - International Agency for Research on Cancer (IARC)
Kevin B Jacobs - , National Cancer Institute
Wong-Ho Chow - , National Cancer Institute
Jorge R Toro - , National Cancer Institute
David Zaridze - Russian N.N.Blokhin Cancer Research Centre
Jie Lin - Division of Cancer Prevention and Population Sciences
Jan Lubinski - International Hereditary Cancer Center, Pomeranian Medical University
Joanna Trubicka - International Hereditary Cancer Center, Pomeranian Medical University
Neonilia Szeszenia-Dabrowska - Institute of Occupational Medicine
Jolanta Lissowska - M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology
Peter Rudnai - National Institute of Environmental Health
Eleonora Fabianova - Regional Authority of Public Health in Banska Bystrica
Dana Mates - National Institute of Public Health
Viorel Jinga - “T. Burghele” Clinic of Urology
Vladimir Bencko - Institute of Hygiene and Epidemiology, First Faculty of Medicine, Charles University in Prague
Alena Slamova - Institute of Hygiene and Epidemiology, First Faculty of Medicine, Charles University in Prague
Ivana Holcatova - Institute of Hygiene and Epidemiology, First Faculty of Medicine, Charles University in Prague
Marie Navratilova - Masaryk Memorial Cancer Institute
Vladimir Janout - Palacky University
Paolo Boffetta - The Tisch Cancer Institute
Joanne S Colt - , National Cancer Institute
Faith G Davis - University of Illinois at Chicago
Kendra L Schwartz - Wayne State University
Rosamonde E Banks - and
Peter J Selby - and
Patricia Harnden - St James
Christine D Berg - National Cancer Institute, National Institutes of Health
Ann W Hsing - , National Cancer Institute
Robert L Grubb - Washington University School of Medicine
Heiner Boeing - German Institute of Human Nutrition, Potsdam-Rehbruecke
Paolo Vineis - Washington University School of Medicine
Françoise Clavel-Chapelon - INSERM, Centre for Research in Epidemiology and Population Health, U1018, Institut Gustave Roussy
Domenico Palli - Molecular and Nutritional Epidemiology Unit Cancer Research and Prevention Institute–ISPO
Rosario Tumino - Cancer Registry and Histopathology Unit, “Civile M.P.Arezzo” Hospital, ASP 7
Vittorio Krogh - Fondazione IRCCS Istituto Nazionale dei Tumori
Salvatore Panico - Federico II University
Eric J Duell - Catalan Institute of Oncology (ICO-IDIBELL)
José Ramón Quirós - Public Health and Health Planning Directorate
Maria-José Sanchez - Andalusian School of Public Health
Carmen Navarro - CIBER, (CIBERESP)
Eva Ardanaz - CIBER, (CIBERESP)
Miren Dorronsoro - CIBER, (CIBERESP)
Kay-Tee Khaw - University of Cambridge
Naomi E Allen - University of Oxford
H. Bas Bueno-de-Mesquita - National Institute for Public Health and the Environment (RIVM)
Petra H.M Peeters - School of Public Health
Dimitrios Trichopoulos - Harvard School of Public Health
Jakob Linseisen - German Cancer Research Centre
Börje Ljungberg - Umeå University
Kim Overvad - School of Public Health, Aarhus University
Anne Tjønneland - The Danish Cancer Society, Institute of Cancer Epidemiology
Isabelle Romieu - International Agency for Research on Cancer (IARC)
Elio Riboli - School of Public Health
Victoria L Stevens - American Cancer Society
Michael J Thun - American Cancer Society
W. Ryan Diver - American Cancer Society
Susan M Gapstur - American Cancer Society
Paul D Pharoah - University of Cambridge
Douglas F Easton - University of Cambridge
Demetrius Albanes - , National Cancer Institute
Jarmo Virtamo - National Institute for Health and Welfare
Lars Vatten - Department of Public Health and General Practice, Norwegian University of Science and Technology
Kristian Hveem - Department of Public Health and General Practice, Norwegian University of Science and Technology
Tony Fletcher - University of London
Kvetoslava Koppova - Regional Authority of Public Health in Banska Bystrica
Olivier Cussenot - Tenon Hospital APHP (ER2-University Paris 6)
Geraldine Cancel-Tassin - Tenon Hospital APHP (ER2-University Paris 6)
Simone Benhamou - INSERM U946
Michelle A Hildebrandt - Division of Cancer Prevention and Population Sciences
Xia Pu - Division of Cancer Prevention and Population Sciences
Mario Foglio - Commissariat à l’énergie Atomique, Institut Genomique, Centre National de Genotypage
Doris Lechner - Commissariat à l’énergie Atomique, Institut Genomique, Centre National de Genotypage
Amy Hutchinson - , National Cancer Institute
Meredith Yeager - , National Cancer Institute
Joseph F Fraumeni - , National Cancer Institute
Mark Lathrop - Commissariat à l’énergie Atomique, Institut Genomique, Centre National de Genotypage
Konstantin G Skryabin - Kurchatov Scientific Center
James D McKay - International Agency for Research on Cancer (IARC)
Jian Gu - Division of Cancer Prevention and Population Sciences
Paul Brennan - International Agency for Research on Cancer (IARC)
Stephen J Chanock - , National Cancer Institute
Publication Details: Human molecular genetics, Vol.21(2), pp.456-462
Publisher: Oxford University Press
Language: English
Resource Type: Journal article
PMID: 22010048
PMCID: PMC3276284
Record Identifier: 991031562844002976