Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

Autor: Bjornsdottir, Gyda, Stefánsdóttir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkársdóttir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Andersen, Steffen, Brunak, Søren, Burgdorf, Kristoffer, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Per Ingemar, Nielsen, Kasper Rene, Nyegaard, Mette, Bruun, Mie Topholm, Pedersen, Ole Birger, Dinh, Khoa Manh, Sørensen, Erik, Ostrowski, Sisse R., Johansson, Pär Ingemar, Gudbjartsson, Daniel F., Stefansson, Hreinn, Þorsteinsdóttir, Unnur, Larsen, Margit Anita Hørup, Didriksen, Maria, Sækmose, Susanne, Zeggini, Eleftheria, Hatzikotoulas, Konstantinos, Southam, Lorraine, Gilly, Arthur, Barysenka, Andrei, van Meurs, Joyce B. J., Boer, Cindy G., Uitterlinden, André G., Jonsson, Helgi, Ingvarsson, Thorvaldur, Esko, Tõnu, Mägi, Reedik, Teder-Laving, Maris, Ikegawa, Shiro, Terao, Chikashi, Takuwa, Hiroshi, Meulenbelt, Ingrid, Coutinho de Almeida, Rodrigo, Kloppenburg, Margreet, Tuerlings, Margo, Slagboom, P. Eline, Nelissen, Rob R. G. H. H., Valdes, Ana M., Mangino, Massimo, Tsezou, Aspasia, Zengini, Eleni, Alexiadis, George, Babis, George C., Cheah, Kathryn S. E., Wu, Tian T., Samartzis, Dino, Cheung, Jason Pui Yin, Sham, Pak Chung, Kraft, Peter, Kang, Jae Hee, Hveem, Kristian, Zwart, John-Anker, Luetge, Almut, Skogholt, Anne Heidi, Johnsen, Marianne B., Thomas, Laurent F., Winsvold, Bendik, Gabrielsen, Maiken E., Lee, Ming Ta Michael, Zhang, Yanfei, Lietman, Steven A., Shivakumar, Manu, Smith, George Davey, Tobias, Jonathan H., Hartley, April, Gaunt, Tom R., Zheng, Jie, Wilkinson, J. Mark, Steinberg, Julia, Morris, Andrew P., Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ullum, Henrik, Thorsteinsdottir, Unnur, Thorgeirsson, Thorgeir E., Stefansson, Kari, Consortium, DBDS Genetic, Consortium, GO

Publikováno v: Nature Communications, 13(1):634. Nature Publishing Group
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Bjornsdottir, G, Stefansdottir, L, Thorleifsson, G, Sulem, P, Norland, K, Ferkingstad, E, Oddsson, A, Zink, F, Lund, S H, Nawaz, M S, Bragi Walters, G, Skuladottir, A T, Gudjonsson, S A, Einarsson, G, Halldorsson, G H, Bjarnadottir, V, Sveinbjornsson, G, Helgadottir, A, Styrkarsdottir, U, Gudmundsson, L J, Pedersen, O B, Hansen, T F, Werge, T, Banasik, K, Troelsen, A, Skou, S T, Thørner, L W, Erikstrup, C, Nielsen, K R, Mikkelsen, S, Jonsdottir, I, Bjornsson, A, Olafsson, I H, Ulfarsson, E, Blondal, J, Vikingsson, A, Brunak, S, Ostrowski, S R, Ullum, H, Thorsteinsdottir, U, Stefansson, H, Gudbjartsson, D F, Thorgeirsson, T E, Stefansson, K, DBDS Genetic Consortium & GO Consortium 2022, ' Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology ', Nature Communications, vol. 13, 634 . https://doi.org/10.1038/s41467-022-28167-1
Bjornsdottir, G, Stefánsdóttir, L, Thorleifsson, G, Sulem, P, Norland, K, Ferkingstad, E, Oddsson, A, Zink, F, Lund, S H, Nawaz, M S, Bragi Walters, G, Skuladottir, A T, Gudjonsson, S A, Einarsson, G, Halldorsson, G H, Bjarnadottir, V, Sveinbjornsson, G, Helgadottir, A, Styrkársdóttir, U, Gudmundsson, L J, Pedersen, O B, Hansen, T F, Werge, T, Banasik, K, Troelsen, A, Skou, S T, Thørner, L W, Erikstrup, C, Nielsen, K R, Mikkelsen, S, Andersen, S, Brunak, S, Burgdorf, K, Hjalgrim, H, Jemec, G, Jennum, P, Johansson, P I, Nielsen, K R, Nyegaard, M, Bruun, M T, Pedersen, O B, Dinh, K M, Sørensen, E, Ostrowski, S R, Johansson, P I, Gudbjartsson, D F, Stefansson, H, Þorsteinsdóttir, U, Larsen, M A H, Didriksen, M, Sækmose, S, Zeggini, E, Hatzikotoulas, K, Southam, L, Gilly, A, Barysenka, A, van Meurs, J B J, Boer, C G, Uitterlinden, A G, Styrkársdóttir, U, Stefánsdóttir, L, Jonsson, H, Ingvarsson, T, Esko, T, Mägi, R, Teder-Laving, M, Ikegawa, S, Terao, C, Takuwa, H, Meulenbelt, I, Coutinho de Almeida, R, Kloppenburg, M, Tuerlings, M, Slagboom, P E, Nelissen, R R G H H, Valdes, A M, Mangino, M, Tsezou, A, Zengini, E, Alexiadis, G, Babis, G C, Cheah, K S E, Wu, T T, Samartzis, D, Cheung, J P Y, Sham, P C, Kraft, P, Kang, J H, Hveem, K, Zwart, J-A, Luetge, A, Skogholt, A H, Johnsen, M B, Thomas, L F, Winsvold, B, Gabrielsen, M E, Lee, M T M, Zhang, Y, Lietman, S A, Shivakumar, M, Smith, G D, Tobias, J H, Hartley, A, Gaunt, T R, Zheng, J, Wilkinson, J M, Steinberg, J, Morris, A P, Jonsdottir, I, Bjornsson, A, Olafsson, I H, Ulfarsson, E, Blondal, J, Vikingsson, A, Brunak, S, Ostrowski, S R, Ullum, H, Thorsteinsdottir, U, Stefansson, H, Gudbjartsson, D F, Thorgeirsson, T E, Stefansson, K, Consortium, DBDS G & Consortium, GO 2022, ' Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology ', Nature Communications, vol. 13, no. 1, 634 . https://doi.org/10.1038/s41467-022-28167-1
Bjornsdottir, G, Stefansdottir, L, Thorleifsson, G, Sulem, P, Norland, K, Ferkingstad, E, Oddsson, A, Zink, F, Lund, S H, Nawaz, M S, Bragi Walters, G, Skuladottir, A T, Gudjonsson, S A, Einarsson, G, Halldorsson, G H, Bjarnadottir, V, Sveinbjornsson, G, Helgadottir, A, Styrkarsdottir, U, Gudmundsson, L J, Pedersen, O B, Hansen, T F, Werge, T, Banasik, K, Troelsen, A, Skou, S T, Thørner, L W, Erikstrup, C, Nielsen, K R, Mikkelsen, S, DBDS Genetic Consortium, Jonsdottir, I, Bjornsson, A, Olafsson, I H, Ulfarsson, E, Blondal, J, Vikingsson, A, Brunak, S, Ostrowski, S R, Ullum, H, Thorsteinsdottir, U, Stefansson, H, Gudbjartsson, D F, Thorgeirsson, T E, Stefansson, K & Nyegaard, M 2022, ' Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology ', Nature Communications, vol. 13, no. 1, 634 . https://doi.org/10.1038/s41467-022-28167-1
Bjornsdottir, G, Stefánsdóttir, L, Thorleifsson, G, Sulem, P, Norland, K, Ferkingstad, E, Oddsson, A, Zink, F, Lund, S H, Nawaz, M S, Bragi Walters, G, Skuladottir, A T, Gudjonsson, S A, Einarsson, G, Halldorsson, G H, Bjarnadottir, V, Sveinbjornsson, G, Helgadottir, A, Styrkársdóttir, U, Gudmundsson, L J, Pedersen, O B, Hansen, T F, Werge, T, Banasik, K, Troelsen, A, Skou, S T, Thørner, L W, Erikstrup, C, Nielsen, K R, Mikkelsen, S, DBDS Genetic Consortium, GO Consortium, Jonsdottir, I, Bjornsson, A, Olafsson, I H, Ulfarsson, E, Blondal, J, Vikingsson, A, Brunak, S, Ostrowski, S R, Ullum, H, Thorsteinsdottir, U, Stefansson, H, Gudbjartsson, D F, Thorgeirsson, T E & Nyegaard, M 2022, ' Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology ', Nature Communications, vol. 13, 634 . https://doi.org/10.1038/s41467-022-28167-1

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and interv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a437f3a611a9b487e04c29f022013bff
https://pure.eur.nl/en/publications/1ed1ee69-849e-44a6-99a5-da9d852b2852

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

Autor: Skuladottir, Astros Th., Bjornsdottir, Gyda, Ferkingstad, Egil, Einarsson, Gudmundur, Stefansdottir, Lilja, Nawaz, Muhammad Sulaman, Oddsson, Asmundur, Olafsdottir, Thorunn A., Saevarsdottir, Saedis, Walters, G. Bragi, Magnusson, Sigurdur H., Bjornsdottir, Anna, Sveinsson, Olafur A., Vikingsson, Arnor, Hansen, Thomas Folkmann, Jacobsen, Rikke Louise, Erikstrup, Christian, Schwinn, Michael, Brunak, Søren, Banasik, Karina, Ostrowski, Sisse Rye, Troelsen, Anders, Henkel, Cecilie, Pedersen, Ole Birger, Andersen, Steffen, Burgdorf, Kristoffer, Didriksen, Maria, Dinh, Khoa Manh, Hjalgrim, Henrik, Jemec, Gregor, Jennum, Poul, Johansson, Pär Ingemar, Larsen, Margit Anita Hørup, Mikkelsen, Susan, Nielsen, Kasper Rene, Nyegaard, Mette, Stefánsson, Hreinn, Sækmose, Susanne, Sørensen, Erik, Thorsteinsdottir, Unnur, Bruun, Mie Topholm, Ullum, Henrik, Werge, Thomas, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Hreinn, Stefansson, Kari

Publikováno v: Skuladottir, A T, Bjornsdottir, G, Ferkingstad, E, Einarsson, G, Stefansdottir, L, Nawaz, M S, Oddsson, A, Olafsdottir, T A, Saevarsdottir, S, Walters, G B, Magnusson, S H, Bjornsdottir, A, Sveinsson, O A, Vikingsson, A, Hansen, T F, Jacobsen, R L, Erikstrup, C, Schwinn, M, Brunak, S, Banasik, K, Ostrowski, S R, Troelsen, A, Henkel, C, Pedersen, O B, DBDS Genetic Consortium, Jonsdottir, I, Gudbjartsson, D F, Sulem, P, Thorgeirsson, T E, Stefansson, H & Stefansson, K 2022, ' A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome ', Nature Communications, vol. 13, 1598 . https://doi.org/10.1038/s41467-022-29133-7
Skuladottir, A T, Bjornsdottir, G, Ferkingstad, E, Einarsson, G, Stefansdottir, L, Nawaz, M S, Oddsson, A, Olafsdottir, T A, Saevarsdottir, S, Walters, G B, Magnusson, S H, Bjornsdottir, A, Sveinsson, O A, Vikingsson, A, Hansen, T F, Jacobsen, R L, Erikstrup, C, Schwinn, M, Brunak, S, Banasik, K, Ostrowski, S R, Troelsen, A, Henkel, C, Pedersen, O B, Jonsdottir, I, Gudbjartsson, D F, Sulem, P, Thorgeirsson, T E, Stefansson, H, Stefansson, K, DBDS Genetic Consortium, Nyegaard, M & Nielsen, K R 2022, ' A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome ', Nature Communications, vol. 13, no. 1, 1598 . https://doi.org/10.1038/s41467-022-29133-7
Skuladottir, A T, Bjornsdottir, G, Ferkingstad, E, Einarsson, G, Stefansdottir, L, Nawaz, M S, Oddsson, A, Olafsdottir, T A, Saevarsdottir, S, Walters, G B, Magnusson, S H, Bjornsdottir, A, Sveinsson, O A, Vikingsson, A, Hansen, T F, Jacobsen, R L, Erikstrup, C, Schwinn, M, Brunak, S, Banasik, K, Ostrowski, S R, Troelsen, A, Henkel, C, Pedersen, O B, Jonsdottir, I, Gudbjartsson, D F, Sulem, P, Thorgeirsson, T E, Stefansson, H, Stefansson, K & DBDS Genetic Consortium 2022, ' A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome ', Nature Communications, vol. 13, no. 1, 1598 . https://doi.org/10.1038/s41467-022-29133-7
Nature Communications
Skuladottir, A T, Bjornsdottir, G, Ferkingstad, E, Einarsson, G, Stefansdottir, L, Nawaz, M S, Oddsson, A, Olafsdottir, T A, Saevarsdottir, S, Walters, G B, Magnusson, S H, Bjornsdottir, A, Sveinsson, O A, Vikingsson, A, Hansen, T F, Jacobsen, R L, Erikstrup, C, Schwinn, M, Brunak, S, Banasik, K, Ostrowski, S R, Troelsen, A, Henkel, C, Pedersen, O B, Jonsdottir, I, Gudbjartsson, D F, Sulem, P, Thorgeirsson, T E, Stefansson, H, Stefansson, K, DBDS Genetic Consortium & Bruun, M T 2022, ' A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome ', Nature Communications, vol. 13, no. 1, 1598 . https://doi.org/10.1038/s41467-022-29133-7

Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0e1fb461e6039948999410e47252af3
https://pure.au.dk/portal/da/publications/a-genomewide-metaanalysis-identifies-50-genetic-loci-associated-with-carpal-tunnel-syndrome(b0b10990-726d-4553-8a3e-3a36045f9933).html

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A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.

Autor: Skuladottir, Astros Th., Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann

Publikováno v: Scientific Reports; 2/18/2021, Vol. 11 Issue 1, p1-8, 8p