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

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Purdue, Mark P (author)

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

Article/chapterEnglish2011

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2010-12-05
Springer Science and Business Media LLC,2011
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LIBRIS-ID:oai:DiVA.org:umu-42272
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-42272URI
https://doi.org/10.1038/ng.723DOI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype

Notes

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 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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
density-lipoprotein hdl; kidney cancer; prostate-cancer; family-history; pancreatic-cancer; breast-cancer; risk; transcription; epidemiology; cholesterol

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Johansson, MattiasInternational Agency for Research on Cancer (IARC), Lyon, France(Swepub:umu)masmas97 (author)
Zelenika, Diana (author)
Toro, Jorge R (author)
Scelo, Ghislaine (author)
Moore, Lee E (author)
Prokhortchouk, Egor (author)
Wu, Xifeng (author)
Kiemeney, Lambertus A (author)
Gaborieau, Valerie (author)
Jacobs, Kevin B (author)
Chow, Wong-Ho (author)
Zaridze, David (author)
Matveev, Vsevolod (author)
Lubinski, Jan (author)
Trubicka, Joanna (author)
Szeszenia-Dabrowska, Neonila (author)
Lissowska, Jolanta (author)
Rudnai, Péter (author)
Fabianova, Eleonora (author)
Bucur, Alexandru (author)
Bencko, Vladimir (author)
Foretova, Lenka (author)
Janout, Vladimir (author)
Boffetta, Paolo (author)
Colt, Joanne S (author)
Davis, Faith G (author)
Schwartz, Kendra L (author)
Banks, Rosamonde E (author)
Selby, Peter J (author)
Harnden, Patricia (author)
Berg, Christine D (author)
Hsing, Ann W (author)
Grubb, Robert L (author)
Boeing, Heiner (author)
Vineis, Paolo (author)
Clavel-Chapelon, Françoise (author)
Palli, Domenico (author)
Tumino, Rosario (author)
Krogh, Vittorio (author)
Panico, Salvatore (author)
Duell, Eric J (author)
Quirós, José Ramón (author)
Sanchez, Maria-José (author)
Navarro, Carmen (author)
Ardanaz, Eva (author)
Dorronsoro, Miren (author)
Khaw, Kay-Tee (author)
Allen, Naomi E (author)
Bueno-de-Mesquita, H Bas (author)
Peeters, Petra H M (author)
Trichopoulos, Dimitrios (author)
Linseisen, Jakob (author)
Ljungberg, BörjeUmeå universitet,Urologi och andrologi(Swepub:umu)bolj0001 (author)
Overvad, Kim (author)
Tjønneland, Anne (author)
Romieu, Isabelle (author)
Riboli, Elio (author)
Mukeria, Anush (author)
Shangina, Oxana (author)
Stevens, Victoria L (author)
Thun, Michael J (author)
Diver, W Ryan (author)
Gapstur, Susan M (author)
Pharoah, Paul D (author)
Easton, Douglas F (author)
Albanes, Demetrius (author)
Weinstein, Stephanie J (author)
Virtamo, Jarmo (author)
Vatten, Lars (author)
Hveem, Kristian (author)
Njølstad, Inger (author)
Tell, Grethe S (author)
Stoltenberg, Camilla (author)
Kumar, Rajiv (author)
Koppova, Kvetoslava (author)
Cussenot, Olivier (author)
Benhamou, Simone (author)
Oosterwijk, Egbert (author)
Vermeulen, Sita H (author)
Aben, Katja K H (author)
van der Marel, Saskia L (author)
Ye, Yuanqing (author)
Wood, Christopher G (author)
Pu, Xia (author)
Mazur, Alexander M (author)
Boulygina, Eugenia S (author)
Chekanov, Nikolai N (author)
Foglio, Mario (author)
Lechner, Doris (author)
Gut, Ivo (author)
Heath, Simon (author)
Blanche, Hélène (author)
Hutchinson, Amy (author)
Thomas, Gilles (author)
Wang, Zhaoming (author)
Yeager, Meredith (author)
Fraumeni, Joseph F (author)
Skryabin, Konstantin G (author)
McKay, James D (author)
Rothman, Nathaniel (author)
Chanock, Stephen J (author)
Lathrop, Mark (author)
Brennan, Paul (author)
International Agency for Research on Cancer (IARC), Lyon, FranceUrologi och andrologi (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC43:1, s. 60-651061-40361546-1718

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By the author/editor: Purdue, Mark P; Johansson, Matti ...; Zelenika, Diana; Toro, Jorge R; Scelo, Ghislaine; Moore, Lee E; show more...; Prokhortchouk, E ...; Wu, Xifeng; Kiemeney, Lamber ...; Gaborieau, Valer ...; Jacobs, Kevin B; Chow, Wong-Ho; Zaridze, David; Matveev, Vsevolo ...; Lubinski, Jan; Trubicka, Joanna; Szeszenia-Dabrow ...; Lissowska, Jolan ...; Rudnai, Péter; Fabianova, Eleon ...; Bucur, Alexandru; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Boffetta, Paolo; Colt, Joanne S; Davis, Faith G; Schwartz, Kendra ...; Banks, Rosamonde ...; Selby, Peter J; Harnden, Patrici ...; Berg, Christine ...; Hsing, Ann W; Grubb, Robert L; Boeing, Heiner; Vineis, Paolo; Clavel-Chapelon, ...; Palli, Domenico; Tumino, Rosario; Krogh, Vittorio; Panico, Salvator ...; Duell, Eric J; Quirós, José Ram ...; Sanchez, Maria-J ...; Navarro, Carmen; Ardanaz, Eva; Dorronsoro, Mire ...; Khaw, Kay-Tee; Allen, Naomi E; Bueno-de-Mesquit ...; Peeters, Petra H ...; Trichopoulos, Di ...; Linseisen, Jakob; Ljungberg, Börje; Overvad, Kim; Tjønneland, Anne; Romieu, Isabelle; Riboli, Elio; Mukeria, Anush; Shangina, Oxana; Stevens, Victori ...; Thun, Michael J; Diver, W Ryan; Gapstur, Susan M; Pharoah, Paul D; Easton, Douglas ...; Albanes, Demetri ...; Weinstein, Steph ...; Virtamo, Jarmo; Vatten, Lars; Hveem, Kristian; Njølstad, Inger; Tell, Grethe S; Stoltenberg, Cam ...; Kumar, Rajiv; Koppova, Kvetosl ...; Cussenot, Olivie ...; Benhamou, Simone; Oosterwijk, Egbe ...; Vermeulen, Sita ...; Aben, Katja K H; van der Marel, S ...; Ye, Yuanqing; Wood, Christophe ...; Pu, Xia; Mazur, Alexander ...; Boulygina, Eugen ...; Chekanov, Nikola ...; Foglio, Mario; Lechner, Doris; Gut, Ivo; Heath, Simon; Blanche, Hélène; Hutchinson, Amy; Thomas, Gilles; Wang, Zhaoming; Yeager, Meredith; Fraumeni, Joseph ...; Skryabin, Konsta ...; McKay, James D; Rothman, Nathani ...; Chanock, Stephen ...; Lathrop, Mark; Brennan, Paul; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Nature Genetics

By the university: Umeå University

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