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Cited by 434

The DOI matches its Crossref record; 212 of the 212 references it cites were found in a registry or an index.

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Open access
Boer, Cindy G., Hatzikotoulas, Konstantinos, Southam, Lorraine, Stefánsdóttir, Lilja, Zhang, Yanfei, Coutinho de Almeida, Rodrigo, Wu, Tian T., Zheng, Jie, Hartley, April, Teder-Laving, Maris, Skogholt, Anne Heidi, Terao, Chikashi, Zengini, Eleni, Alexiadis, George, Barysenka, Andrei, Bjornsdottir, Gyda, Gabrielsen, Maiken E., Gilly, Arthur, Ingvarsson, Thorvaldur, Johnsen, Marianne B., Jonsson, Helgi, Kloppenburg, Margreet, Luetge, Almut, Lund, Sigrun H., Mägi, Reedik, Mangino, Massimo, Nelissen, Rob R.G.H.H., Shivakumar, Manu, Steinberg, Julia, Takuwa, Hiroshi, Thomas, Laurent F., Tuerlings, Margo, Loughlin, John, Arden, Nigel, Birrell, Fraser, Carr, Andrew, Deloukas, Panos, Doherty, Michael, McCaskie, Andrew W., Ollier, William E.R., Rai, Ashok, Ralston, Stuart H., Spector, Tim D., Wallis, Gillian A., Martinsen, Amy E., Willer, Cristen, Fors, Egil Andreas, Mundal, Ingunn, Hagen, Knut, Nilsen, Kristian Bernhard, Lie, Marie Udnesseter, Børte, Sigrid, Brumpton, Ben, Nielsen, Jonas Bille, Fritsche, Lars G., Zhou, Wei, Heuch, Ingrid, Storheim, Kjersti, Tyrpenou, Evangelos, Koukakis, Athanasios, Chytas, Dimitrios, Evangelopoulos, Dimitrios Stergios, Efstathios, Chronopoulos, Pneumaticos, Spiros, Nikolaou, Vasileios S., Malizos, Konstantinos, Anastasopoulou, Lydia, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, Siminovitch, Katherine, Beechert, Christina, Forsythe, Caitlin, Fuller, Erin D., Gu, Zhenhua, Lattari, Michael, Lopez, Alexander, Schleicher, Thomas D., Padilla, Maria Sotiropoulos, Widom, Louis, Wolf, Sarah E., Pradhan, Manasi, Manoochehri, Kia, Bai, Xiaodong, Balasubramanian, Suganthi, Boutkov, Boris, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Krasheninina, Olga, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., Nafde, Mona, O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Li, Dadong, Sharma, Deepika, Banerjee, Ilanjana, Bovijn, Jonas, Locke, Adam, Verweij, Niek, Haas, Mary, Hindy, George, De, Tanima, Akbari, Parsa, Sosina, Olukayode, Ferreira, Manuel A.R., Jones, Marcus B., Mighty, Jason, LeBlanc, Michelle G., Mitnaul, Lyndon J., Babis, George C., Cheung, Jason Pui Yin, Kang, Jae Hee, Kraft, Peter, Lietman, Steven A., Samartzis, Dino, Slagboom, P. Eline, Stefansson, Kari, Thorsteinsdottir, Unnur, Tobias, Jonathan H., Uitterlinden, André G., Winsvold, Bendik, Zwart, John-Anker, Davey Smith, George, Sham, Pak Chung, Thorleifsson, Gudmar, Gaunt, Tom R., Morris, Andrew P., Valdes, Ana M., Tsezou, Aspasia, Cheah, Kathryn S.E., Ikegawa, Shiro, Hveem, Kristian, Esko, Tõnu, Wilkinson, J. Mark, Meulenbelt, Ingrid, Lee, Ming Ta Michael, van Meurs, Joyce B.J., Styrkársdóttir, Unnur, Zeggini, Eleftheria·2021·Cell
DOI 10.1016/j.cell.2021.07.038
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Abstract

Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 11 osteoarthritis phenotypes, 52 of which have not been associated with the disease before. We report thumb and spine osteoarthritis risk variants and identify differences in genetic effects between weight-bearing and non-weight-bearing joints. We identify sex-specific and early age-at-onset osteoarthritis risk loci. We integrate functional genomics data from primary patient tissues (including articular cartilage, subchondral bone, and osteophytic cartilage) and identify high-confidence effector genes. We provide evidence for genetic correlation with phenotypes related to pain, the main disease symptom, and identify likely causal genes linked to neuronal processes. Our results provide insights into key molecular players in disease processes and highlight attractive drug targets to accelerate translation.

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Authors
Boer, C. G., Hatzikotoulas, K., Southam, L., Stefánsdóttir, L., Zhang, Y., Coutinho de Almeida, R., Wu, T. T., Zheng, J., Hartley, A., Teder-Laving, M., Skogholt, A. H., Terao, C., Zengini, E., Alexiadis, G., Barysenka, A., Bjornsdottir, G., Gabrielsen, M. E., Gilly, A., Ingvarsson, T., Johnsen, M. B., Jonsson, H., Kloppenburg, M., Luetge, A., Lund, S. H., Mägi, R., Mangino, M., Nelissen, R. R. G. H. H., Shivakumar, M., Steinberg, J., Takuwa, H., Thomas, L. F., Tuerlings, M., Loughlin, J., Arden, N., Birrell, F., Carr, A., Deloukas, P., Doherty, M., McCaskie, A. W., Ollier, W. E. R., Rai, A., Ralston, S. H., Spector, T. D., Wallis, G. A., Martinsen, A. E., Willer, C., Fors, E. A., Mundal, I., Hagen, K., Nilsen, K. B., Lie, M. U., Børte, S., Brumpton, B., Nielsen, J. B., Fritsche, L. G., Zhou, W., Heuch, I., Storheim, K., Tyrpenou, E., Koukakis, A., Chytas, D., Evangelopoulos, D. S., Efstathios, C., Pneumaticos, S., Nikolaou, V. S., Malizos, K., Anastasopoulou, L., Abecasis, G., Baras, A., Cantor, M., Coppola, G., Deubler, A., Economides, A., Lotta, L. A., Overton, J. D., Reid, J. G., Shuldiner, A., Karalis, K., Siminovitch, K., Beechert, C., Forsythe, C., Fuller, E. D., Gu, Z., Lattari, M., Lopez, A., Schleicher, T. D., Padilla, M. S., Widom, L., Wolf, S. E., Pradhan, M., Manoochehri, K., Bai, X., Balasubramanian, S., Boutkov, B., Eom, G., Habegger, L., Hawes, A., Krasheninina, O., Lanche, R., Mansfield, A. J., Maxwell, E. K., Nafde, M., O’Keeffe, S., Orelus, M., Panea, R., Polanco, T., Rasool, A., Salerno, W., Staples, J. C., Li, D., Sharma, D., Banerjee, I., Bovijn, J., Locke, A., Verweij, N., Haas, M., Hindy, G., De, T., Akbari, P., Sosina, O., Ferreira, M. A. R., Jones, M. B., Mighty, J., LeBlanc, M. G., Mitnaul, L. J., Babis, G. C., Cheung, J. P. Y., Kang, J. H., Kraft, P., Lietman, S. A., Samartzis, D., Slagboom, P. E., Stefansson, K., Thorsteinsdottir, U., Tobias, J. H., Uitterlinden, A. G., Winsvold, B., Zwart, J.-A., Davey Smith, G., Sham, P. C., Thorleifsson, G., Gaunt, T. R., Morris, A. P., Valdes, A. M., Tsezou, A., Cheah, K. S. E., Ikegawa, S., Hveem, K., Esko, T., Wilkinson, J. M., Meulenbelt, I., Lee, M. T. M., van Meurs, J. B. J., Styrkársdóttir, U., & Zeggini, E.
Venue
Cell
Publisher
Elsevier BV
Published
2021-09
Volume
184
Issue
18
Pages
4784-4818.e17
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2021.07.038
OpenAlex
W3193910581
Cited by
434
References
212
FWCI
51.22
Type
journal article
Language
en
Open access
hybrid

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The paper
Boer, C. G., Hatzikotoulas, K., Southam, L., Stefánsdóttir, L., Zhang, Y., Coutinho de Almeida, R., Wu, T. T., Zheng, J., Hartley, A., Teder-Laving, M., Skogholt, A. H., Terao, C., Zengini, E., Alexiadis, G., Barysenka, A., Bjornsdottir, G., Gabrielsen, M. E., Gilly, A., Ingvarsson, T., . . . Zeggini, E. (2021). Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Cell. https://doi.org/10.1016/j.cell.2021.07.038

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.