Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.
Purdue Mark P, Dutta Diptavo, Machiela Mitchell J, Gorman Bryan R, Winter Timothy, Okuhara Dayne, Cleland Sara, Ferreiro-Iglesias Aida, Scheet Paul, Liu Aoxing, Wu Chao, Antwi Samuel O, Larkin James, Zequi Stênio C, Sun Maxine, Hikino Keiko, Hajiran Ali, Lawson Keith A, Cárcano Flavio, Blanchet Odile, Shuch Brian, Nepple Kenneth G, Margue Gaëlle, Sundi Debasish, Diver W Ryan, Folgueira Maria A A K, van Bokhoven Adrie, Neffa Florencia, Brown Kevin M, Hofmann Jonathan N, Rhee Jongeun, Yeager Meredith, Cole Nathan R, Hicks Belynda D, Manning Michelle R, Hutchinson Amy A, Rothman Nathaniel, Huang Wen-Yi, Linehan W Marston, Lori Adriana, Ferragu Matthieu, Zidane-Marinnes Merzouka, Serrano Sérgio V, Magnabosco Wesley J, BioBank Japan Project, Vilas Ana, Decia Ricardo, Carusso Florencia, Graham Laura S, Anderson Kyra, Bilen Mehmet A, Arciero Cletus, Pellegrin Isabelle, Ricard Solène, FinnGen, Scelo Ghislaine, Banks Rosamonde E, Vasudev Naveen S, Soomro Naeem, Stewart Grant D, Adeyoju Adebanji, Bromage Stephen, Hrouda David, Gibbons Norma, Patel Poulam, Sullivan Mark, Protheroe Andrew, Nugent Francesca I, Fournier Michelle J, Zhang Xiaoyu, Martin Lisa J, Komisarenko Maria, Eisen Timothy, Cunningham Sonia A, Connolly Denise C, Uzzo Robert G, Zaridze David, Mukeria Anush, Holcatova Ivana, Hornakova Anna, Foretova Lenka, Janout Vladimir, Mates Dana, Jinga Viorel, Rascu Stefan, Mijuskovic Mirjana, Savic Slavisa, Milosavljevic Sasa, Gaborieau Valérie, Abedi-Ardekani Behnoush, McKay James, Johansson Mattias, Phouthavongsy Larry, Hayman Lindsay, Li Jason, Lungu Ilinca, Bezerra Stephania M, Souza Aline G, Sares Claudia T G, Reis Rodolfo B, Gallucci Fabio P, Cordeiro Mauricio D, Pomerantz Mark, Lee Gwo-Shu M, Freedman Matthew L, Jeong Anhyo, Greenberg Samantha E, Sanchez Alejandro, Thompson R Houston, Sharma Vidit, Thiel David D, Ball Colleen T, Abreu Diego, Lam Elaine T, Nahas William C, Master Viraj A, Patel Alpa V, Bernhard Jean-Christophe, Freedman Neal D, Bigot Pierre, Reis Rui M, Colli Leandro M, Finelli Antonio, Manley Brandon J, Terao Chikashi, Choueiri Toni K, Carraro Dirce M, Houlston Richard, Eckel-Passow Jeanette E, Abbosh Philip H, Ganna Andrea, Brennan Paul, Gu Jian, Chanock Stephen J
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Аннотация
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechanisms in kidney cancer. Our results advance understanding of the genetic architecture of kidney cancer, provide clues for functional investigation and enable generation of a validated polygenic risk score with an estimated area under the curve of 0.65 (0.74 including risk factors) among European ancestry individuals.
Для цитирования: Purdue Mark P, Dutta Diptavo, Machiela Mitchell J, Gorman Bryan R, Winter Timothy, Okuhara Dayne, Cleland Sara, Ferreiro-Iglesias Aida, Scheet Paul, Liu Aoxing, Wu Chao, Antwi Samuel O, Larkin James, Zequi Stênio C, Sun Maxine, Hikino Keiko, Hajiran Ali, Lawson Keith A, Cárcano Flavio, Blanchet Odile, Shuch Brian, Nepple Kenneth G, Margue Gaëlle, Sundi Debasish, Diver W Ryan, Folgueira Maria A A K, van Bokhoven Adrie, Neffa Florencia, Brown Kevin M, Hofmann Jonathan N, Rhee Jongeun, Yeager Meredith, Cole Nathan R, Hicks Belynda D, Manning Michelle R, Hutchinson Amy A, Rothman Nathaniel, Huang Wen-Yi, Linehan W Marston, Lori Adriana, Ferragu Matthieu, Zidane-Marinnes Merzouka, Serrano Sérgio V, Magnabosco Wesley J, BioBank Japan Project, Vilas Ana, Decia Ricardo, Carusso Florencia, Graham Laura S, Anderson Kyra, Bilen Mehmet A, Arciero Cletus, Pellegrin Isabelle, Ricard Solène, FinnGen, Scelo Ghislaine, Banks Rosamonde E, Vasudev Naveen S, Soomro Naeem, Stewart Grant D, Adeyoju Adebanji, Bromage Stephen, Hrouda David, Gibbons Norma, Patel Poulam, Sullivan Mark, Protheroe Andrew, Nugent Francesca I, Fournier Michelle J, Zhang Xiaoyu, Martin Lisa J, Komisarenko Maria, Eisen Timothy, Cunningham Sonia A, Connolly Denise C, Uzzo Robert G, Zaridze David, Mukeria Anush, Holcatova Ivana, Hornakova Anna, Foretova Lenka, Janout Vladimir, Mates Dana, Jinga Viorel, Rascu Stefan, Mijuskovic Mirjana, Savic Slavisa, Milosavljevic Sasa, Gaborieau Valérie, Abedi-Ardekani Behnoush, McKay James, Johansson Mattias, Phouthavongsy Larry, Hayman Lindsay, Li Jason, Lungu Ilinca, Bezerra Stephania M, Souza Aline G, Sares Claudia T G, Reis Rodolfo B, Gallucci Fabio P, Cordeiro Mauricio D, Pomerantz Mark, Lee Gwo-Shu M, Freedman Matthew L, Jeong Anhyo, Greenberg Samantha E, Sanchez Alejandro, Thompson R Houston, Sharma Vidit, Thiel David D, Ball Colleen T, Abreu Diego, Lam Elaine T, Nahas William C, Master Viraj A, Patel Alpa V, Bernhard Jean-Christophe, Freedman Neal D, Bigot Pierre, Reis Rui M, Colli Leandro M, Finelli Antonio, Manley Brandon J, Terao Chikashi, Choueiri Toni K, Carraro Dirce M, Houlston Richard, Eckel-Passow Jeanette E, Abbosh Philip H, Ganna Andrea, Brennan Paul, Gu Jian, Chanock Stephen J. Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.. Nature genetics. 2024. DOI: 10.1038/s41588-024-01725-7.
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