Genomics

Dataset Information

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National Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma


ABSTRACT:

The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-control), scanned using the Illumina InfiniumHumanHap 550, 610 and 660W chips. This project was supported by the Intramural Research Program of the National Institutes of Health and NCI.

Data from this GWAS were pooled with those from another GWAS of RCC (2,639 cases and 5,392 controls) conducted in Europe by the International Agency for Research on Cancer and the Centre National de Gènotypage. Findings from this collaboration are described in an upcoming report (Purdue et al. Nature Genetics 2011;43(1):60-65; PMID: 21131975).

Only data from the NCI scan are included in this dbGaP submission.

PROVIDER: phs000351.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

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

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

Nature genetics 20101205 1


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 (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS  ...[more]

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