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Author  |
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.; Fabianova, E.; Bucur, A.; Bencko, V.; Foretova, L.; Janout, V.; Boffetta, P.; Colt, J.S.; Davis, F.G.; Schwartz, K.L.; Banks, R.E.; Selby, P.J.; Harnden, P.; Berg, C.D.; Hsing, A.W.; Grubb, R.L. 3rd; Boeing, H.; Vineis, P.; Clavel-Chapelon, F.; Palli, D.; Tumino, R.; Krogh, V.; Panico, S.; Duell, E.J.; Quiros, J.R.; Sanchez, M.-J.; Navarro, C.; Ardanaz, E.; Dorronsoro, M.; Khaw, K.-T.; Allen, N.E.; Bueno-de-Mesquita, H.B.; Peeters, P.H.M.; Trichopoulos, D.; Linseisen, J.; Ljungberg, B.; Overvad, K.; Tjonneland, A.; Romieu, I.; Riboli, E.; Mukeria, A.; Shangina, O.; Stevens, V.L.; Thun, M.J.; Diver, W.R.; Gapstur, S.M.; Pharoah, P.D.; Easton, D.F.; Albanes, D.; Weinstein, S.J.; Virtamo, J.; Vatten, L.; Hveem, K.; Njolstad, I.; Tell, G.S.; Stoltenberg, C.; Kumar, R.; Koppova, K.; Cussenot, O.; Benhamou, S.; Oosterwijk, E.; Vermeulen, S.H.; Aben, K.K.H.; van der Marel, S.L.; Ye, Y.; Wood, C.G.; Pu, X.; Mazur, A.M.; Boulygina, E.S.; Chekanov, N.N.; Foglio, M.; Lechner, D.; Gut, I.; Heath, S.; Blanche, H.; Hutchinson, A.; Thomas, G.; Wang, Z.; Yeager, M.; Fraumeni, J.F.J.; Skryabin, K.G.; McKay, J.D.; Rothman, N.; Chanock, S.J.; Lathrop, M.; Brennan, P. |
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Title |
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 |
Type |
Journal Article |
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Year |
2011 |
Publication |
Nature Genetics |
Abbreviated Journal |
Nat Genet |
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Volume |
43 |
Issue |
1 |
Pages |
60-65 |
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Keywords |
HUNT2; Carcinoma, Renal Cell/*genetics; Case-Control Studies; Chromosomes, Human, Pair 11/*genetics; Chromosomes, Human, Pair 2/*genetics; *Genetic Predisposition to Disease/genetics; Genome, Human; *Genome-Wide Association Study; Humans; Kidney Neoplasms/*genetics; Polymorphism, Single Nucleotide; Risk Factors |
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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 x 10(-)(8)) and rs7579899 (P = 2.3 x 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 x 10(-)(1)(4)). 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 x 10(-)(8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights. |
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Address |
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland, USA |
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English |
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ISSN |
1061-4036 |
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Notes |
PMID:21131975; PMC3049257 |
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Call Number |
HUNT @ maria.stuifbergen @ |
Serial |
1697 |
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