A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Autor: Strunz, Tobias, Lauwen, Susette, Kiel, Christina, Fritsche, Lars G., Igl, Wilmar, Bailey, Jessica N.Cooke, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P.N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T.E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H.S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, Cree, Angela J., Goverdhan, Srinivas V., Moore, Emily L., Lotery, Andrew J.

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-16 (2020)
Scientific Reports
Scientific Reports, 10(1):1584. Nature Publishing Group
Scientific Reports, 10

Contains fulltext : 218949.pdf (Publisher’s version ) (Open Access) Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cbf638a49b475be793d6fc4d47f381
http://link.springer.com/article/10.1038/s41598-020-58510-9

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Autor: Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, Wiggs, Janey L

Publikováno v: Nature Communications, 12(1):1258. Nature Publishing Group
NEIGHBORHOOD Consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group & 23 and Me Research Team 2021, ' Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries ', Nature Communications, vol. 12, no. 1, 1258 . https://doi.org/10.1038/s41467-020-20851-4
Nature Communications
Nature communications, vol 12, iss 1
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, 12
Nature Communications, 12, 1

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7d731b3bc4c940606176a1a6a7f6af
https://pure.eur.nl/en/publications/729a5ab4-4899-4eec-b043-33a2963a1b20

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In vitrostem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsbyfundusdystrophy

Autor: Hongisto, Heidi, Uusitalo, Hannu, Kaarniranta, Kai, Ratnayaka, J. Arjuna, Skottman, Heli, Lotery, Andrew J., Dewing, Jennifer M., Christensen, David R. G., Scott, Jennifer, Cree, Angela J., Nättinen, Janika, Määttä, Juha, Jylhä, Antti, Aapola, Ulla

acceptedVersion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4853::676e9106814753afccb9ed9bc51aba4e
https://trepo.tuni.fi/handle/10024/133375

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