Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss

Autor: Kyuto Sonehara, Yoshitaka Yano, Tatsuhiko Naito, Shinobu Goto, Hiroyuki Yoshihara, Takahiro Otani, Fumiko Ozawa, Tamao Kitaori, the Biobank Japan Project, Koichi Matsuda, Takashi Nishiyama, Yukinori Okada, Mayumi Sugiura-Ogasawara

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)

Abstract Recurrent pregnancy loss (RPL) is a major reproductive health issue with multifactorial causes, affecting 2.6% of all pregnancies worldwide. Nearly half of the RPL cases lack clinically identifiable causes (e.g., antiphospholipid syndrome, u

Externí odkaz: https://doaj.org/article/23b2678d3b194eb784e44ae1cbecc185

Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis

Autor: Go Sato, Yuya Shirai, Shinichi Namba, Ryuya Edahiro, Kyuto Sonehara, Tsuyoshi Hata, Mamoru Uemura, the Biobank Japan Project, Koichi Matsuda, Yuichiro Doki, Hidetoshi Eguchi, Yukinori Okada

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)

Abstract Integrating genomic data of multiple cancers allows de novo cancer grouping and elucidating the shared genetic basis across cancers. Here, we conduct the pan-cancer and cross-population genome-wide association study (GWAS) meta-analysis and

Externí odkaz: https://doaj.org/article/7b6e9d0435ed4e98bb31add8d2707606

Identification of serum metabolome signatures associated with retinal and renal complications of type 2 diabetes

Autor: Yoshihiko Tomofuji, Ken Suzuki, Toshihiro Kishikawa, Nobuhiro Shojima, Jun Hosoe, Kyoko Inagaki, Sunao Matsubayashi, Hisamitsu Ishihara, Hirotaka Watada, Yasushi Ishigaki, The BioBank Japan Project, Hidenori Inohara, Yoshinori Murakami, Koichi Matsuda, Yukinori Okada, Toshimasa Yamauchi, Takashi Kadowaki

Publikováno v: Communications Medicine, Vol 3, Iss 1, Pp 1-8 (2023)

Tomofuji et al. perform non-targeted metabolomics on serum samples from people with type 2 diabetes with or without complications. The authors identify metabolites associated with retinal and renal complications.

Externí odkaz: https://doaj.org/article/5f92298e2ef24c3ba6ad59b24f9b97e7

Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

Autor: Qingbo S. Wang, David R. Kelley, Jacob Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui, Carlos Albors, Nathan Cheng, Yukinori Okada, The Biobank Japan Project, Francois Aguet, Kristin G. Ardlie, Daniel G. MacArthur, Hilary K. Finucane

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)

Finding causal variants and genes from GWAS loci results remains a challenge. Here, the authors train a model to predict if a variant affects nearby gene expression, and apply the method to identify new possible causal eQTLs and mechanisms of GWAS lo

Externí odkaz: https://doaj.org/article/f492bfb02a464d72ae49db0b2d0594f8

Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma

Autor: 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, Magnabosco, Wesley J., BioBank Japan Project Consortium, 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., de 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., Guo, Xinyu, Winter, Timothy D., Jahagirdar, Om, Ha, Eunji, Susztak, Katalin

Publikováno v: In The American Journal of Human Genetics 5 September 2024 111(9):1864-1876