Sex specific associations in genome wide association analysis of renal cell carcinoma.

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Laskar, Ruhina SInternational Agency for Research on Cancer (IARC), Lyon, France (author)

Sex specific associations in genome wide association analysis of renal cell carcinoma.

Article/chapterEnglish2019

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2019-06-23
Springer Science and Business Media LLC,2019
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LIBRIS-ID:oai:DiVA.org:uu-419006
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-419006URI
https://doi.org/10.1038/s41431-019-0455-9DOI
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-161383URI
http://kipublications.ki.se/Default.aspx?queryparsed=id:141801221URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (ORmale) = 0.83 [95% CI = 0.78-0.89], Pmale = 1.71 × 10-8 compared with female odds ratio (ORfemale) = 0.98 [95% CI = 0.90-1.07], Pfemale = 0.68) and 12q23.3 (intergenic, ORmale = 0.75 [95% CI = 0.68-0.83], Pmale = 1.59 × 10-8 compared with ORfemale = 0.93 [95% CI = 0.82-1.06], Pfemale = 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.

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Muller, David C (author)
Li, Peng (author)
Machiela, Mitchell J (author)
Ye, Yuanqing (author)
Gaborieau, Valerie (author)
Foll, Matthieu (author)
Hofmann, Jonathan N (author)
Colli, Leandro (author)
Sampson, Joshua N (author)
Wang, Zhaoming (author)
Bacq-Daian, Delphine (author)
Boland, Anne (author)
Abedi-Ardekani, Behnoush (author)
Durand, Geoffroy (author)
Le Calvez-Kelm, Florence (author)
Robinot, Nivonirina (author)
Blanche, Helene (author)
Prokhortchouk, Egor (author)
Skryabin, Konstantin G (author)
Burdett, Laurie (author)
Yeager, Meredith (author)
Radojevic-Skodric, Sanja (author)
Savic, SlavisaKarolinska Institutet (author)
Foretova, Lenka (author)
Holcatova, Ivana (author)
Janout, Vladimir (author)
Mates, Dana (author)
Rascu, Stefan (author)
Mukeria, Anush (author)
Zaridze, David (author)
Bencko, Vladimir (author)
Cybulski, Cezary (author)
Fabianova, Eleonora (author)
Jinga, Viorel (author)
Lissowska, Jolanta (author)
Lubinski, Jan (author)
Navratilova, Marie (author)
Rudnai, Peter (author)
Świątkowska, Beata (author)
Benhamou, Simone (author)
Cancel-Tassin, Geraldine (author)
Cussenot, Olivier (author)
Trichopoulou, Antonia (author)
Riboli, Elio (author)
Overvad, Kim (author)
Panico, Salvatore (author)
Ljungberg, Börje,1949-Umeå universitet,Urologi och andrologi(Swepub:umu)bolj0001 (author)
Tumkur Sitaram, Raviprakash,1974-Umeå universitet,Urologi och andrologi(Swepub:umu)tura0001 (author)
Giles, Graham G (author)
Milne, Roger L (author)
Severi, Gianluca (author)
Bruinsma, Fiona (author)
Fletcher, Tony (author)
Koppova, Kvetoslava (author)
Larsson, Susanna C (author)
Wolk, AlicjaKarolinska Institutet (author)
Banks, Rosamonde E (author)
Selby, Peter J (author)
Easton, Douglas F (author)
Pharoah, Paul (author)
Andreotti, Gabriella (author)
Beane Freeman, Laura E (author)
Koutros, Stella (author)
Albanes, Demetrius (author)
Männistö, Satu (author)
Weinstein, Stephanie (author)
Clark, Peter E (author)
Edwards, Todd L (author)
Lipworth, Loren (author)
Carol, Hallie (author)
Freedman, Matthew L (author)
Pomerantz, Mark M (author)
Cho, Eunyoung (author)
Kraft, Peter (author)
Preston, Mark A (author)
Wilson, Kathryn M (author)
Michael Gaziano, J (author)
Sesso, Howard D (author)
Black, Amanda (author)
Freedman, Neal D (author)
Huang, Wen-Yi (author)
Anema, John G (author)
Kahnoski, Richard J (author)
Lane, Brian R (author)
Noyes, Sabrina L (author)
Petillo, David (author)
Teh, Bin Tean (author)
Peters, Ulrike (author)
White, Emily (author)
Anderson, Garnet L (author)
Johnson, Lisa (author)
Luo, Juhua (author)
Chow, Wong-Ho (author)
Moore, Lee E (author)
Choueiri, Toni K (author)
Wood, Christopher (author)
Johansson, Mattias (author)
McKay, James D (author)
Brown, Kevin M (author)
Rothman, Nathaniel (author)
Lathrop, Mark G (author)
Deleuze, Jean-Francois (author)
Wu, Xifeng (author)
Brennan, Paul (author)
Chanock, Stephen J (author)
Purdue, Mark P (author)
Scelo, GhislaineInternational Agency for Research on Cancer (IARC), Lyon, France (author)
Karolinska InstitutetInternational Agency for Research on Cancer (IARC), Lyon, France (creator_code:org_t)

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In:European Journal of Human Genetics: Springer Science and Business Media LLC27:10, s. 1589-15981018-48131476-5438

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By the author/editor: Laskar, Ruhina S; Muller, David C; Li, Peng; Machiela, Mitche ...; Ye, Yuanqing; Gaborieau, Valer ...; show more...; Foll, Matthieu; Hofmann, Jonatha ...; Colli, Leandro; Sampson, Joshua ...; Wang, Zhaoming; Bacq-Daian, Delp ...; Boland, Anne; Abedi-Ardekani, ...; Durand, Geoffroy; Le Calvez-Kelm, ...; Robinot, Nivonir ...; Blanche, Helene; Prokhortchouk, E ...; Skryabin, Konsta ...; Burdett, Laurie; Yeager, Meredith; Radojevic-Skodri ...; Savic, Slavisa; Foretova, Lenka; Holcatova, Ivana; Janout, Vladimir; Mates, Dana; Rascu, Stefan; Mukeria, Anush; Zaridze, David; Bencko, Vladimir; Cybulski, Cezary; Fabianova, Eleon ...; Jinga, Viorel; Lissowska, Jolan ...; Lubinski, Jan; Navratilova, Mar ...; Rudnai, Peter; Świątkowska, Bea ...; Benhamou, Simone; Cancel-Tassin, G ...; Cussenot, Olivie ...; Trichopoulou, An ...; Riboli, Elio; Overvad, Kim; Panico, Salvator ...; Ljungberg, Börje ...; Tumkur Sitaram, ...; Giles, Graham G; Milne, Roger L; Severi, Gianluca; Bruinsma, Fiona; Fletcher, Tony; Koppova, Kvetosl ...; Larsson, Susanna ...; Wolk, Alicja; Banks, Rosamonde ...; Selby, Peter J; Easton, Douglas ...; Pharoah, Paul; Andreotti, Gabri ...; Beane Freeman, L ...; Koutros, Stella; Albanes, Demetri ...; Männistö, Satu; Weinstein, Steph ...; Clark, Peter E; Edwards, Todd L; Lipworth, Loren; Carol, Hallie; Freedman, Matthe ...; Pomerantz, Mark ...; Cho, Eunyoung; Kraft, Peter; Preston, Mark A; Wilson, Kathryn ...; Michael Gaziano, ...; Sesso, Howard D; Black, Amanda; Freedman, Neal D; Huang, Wen-Yi; Anema, John G; Kahnoski, Richar ...; Lane, Brian R; Noyes, Sabrina L; Petillo, David; Teh, Bin Tean; Peters, Ulrike; White, Emily; Anderson, Garnet ...; Johnson, Lisa; Luo, Juhua; Chow, Wong-Ho; Moore, Lee E; Choueiri, Toni K; Wood, Christophe ...; Johansson, Matti ...; McKay, James D; Brown, Kevin M; Rothman, Nathani ...; Lathrop, Mark G; Deleuze, Jean-Fr ...; Wu, Xifeng; Brennan, Paul; Chanock, Stephen ...; Purdue, Mark P; Scelo, Ghislaine; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Health Sciences; and Public Health Gl ...

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

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