13 results on '"Lopez de Lapuente Portilla, Aitzkoa"'
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2. Deciphering the genetics and mechanisms of predisposition to multiple myeloma
- Author
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Went, Molly, Duran-Lozano, Laura, Halldorsson, Gisli H., Gunnell, Andrea, Ugidos-Damboriena, Nerea, Law, Philip, Ekdahl, Ludvig, Sud, Amit, Thorleifsson, Gudmar, Thodberg, Malte, Olafsdottir, Thorunn, Lamarca-Arrizabalaga, Antton, Cafaro, Caterina, Niroula, Abhishek, Ajore, Ram, Lopez de Lapuente Portilla, Aitzkoa, Ali, Zain, Pertesi, Maroulio, Goldschmidt, Hartmut, Stefansdottir, Lilja, Kristinsson, Sigurdur Y., Stacey, Simon N., Love, Thorvardur J., Rognvaldsson, Saemundur, Hajek, Roman, Vodicka, Pavel, Pettersson-Kymmer, Ulrika, Späth, Florentin, Schinke, Carolina, Van Rhee, Frits, Sulem, Patrick, Ferkingstad, Egil, Hjorleifsson Eldjarn, Grimur, Mellqvist, Ulf-Henrik, Jonsdottir, Ingileif, Morgan, Gareth, Sonneveld, Pieter, Waage, Anders, Weinhold, Niels, Thomsen, Hauke, Försti, Asta, Hansson, Markus, Juul-Vangsted, Annette, Thorsteinsdottir, Unnur, Hemminki, Kari, Kaiser, Martin, Rafnar, Thorunn, Stefansson, Kari, Houlston, Richard, and Nilsson, Björn
- Published
- 2024
- Full Text
- View/download PDF
3. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.
- Published
- 2023
- Full Text
- View/download PDF
4. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.
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- 2023
- Full Text
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5. Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels
- Author
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Lopez de Lapuente Portilla, Aitzkoa, Ekdahl, Ludvig, Cafaro, Caterina, Ali, Zain, Miharada, Natsumi, Thorleifsson, Gudmar, Žemaitis, Kristijonas, Lamarca Arrizabalaga, Antton, Thodberg, Malte, Pertesi, Maroulio, Dhapola, Parashar, Bao, Erik, Niroula, Abhishek, Bali, Divya, Norddahl, Gudmundur, Ugidos Damboriena, Nerea, Sankaran, Vijay G., Karlsson, Göran, Thorsteinsdottir, Unnur, Larsson, Jonas, Stefansson, Kari, and Nilsson, Björn
- Published
- 2022
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6. Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk
- Author
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Ajore, Ram, Niroula, Abhishek, Pertesi, Maroulio, Cafaro, Caterina, Thodberg, Malte, Went, Molly, Bao, Erik L., Duran-Lozano, Laura, Lopez de Lapuente Portilla, Aitzkoa, Olafsdottir, Thorunn, Ugidos-Damboriena, Nerea, Magnusson, Olafur, Samur, Mehmet, Lareau, Caleb A., Halldorsson, Gisli H., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gunnarsdottir, Kristbjorg, Försti, Asta, Goldschmidt, Hartmut, Hemminki, Kari, van Rhee, Frits, Kimber, Scott, Sperling, Adam S., Kaiser, Martin, Anderson, Kenneth, Jonsdottir, Ingileif, Munshi, Nikhil, Rafnar, Thorunn, Waage, Anders, Weinhold, Niels, Thorsteinsdottir, Unnur, Sankaran, Vijay G., Stefansson, Kari, Houlston, Richard, and Nilsson, Björn
- Published
- 2022
- Full Text
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7. Functional dissection of inherited non-coding variation influencing multiple myeloma risk
- Author
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Ajore, Ram, Niroula, Abhishek, Pertesi, Maroulio, Cafaro, Caterina, Thodberg, Malte, Went, Molly, Bao, Erik L., Duran-Lozano, Laura, Lopez de Lapuente Portilla, Aitzkoa, Olafsdottir, Thorunn, Ugidos-Damboriena, Nerea, Magnusson, Olafur, Samur, Mehmet, Lareau, Caleb A., Halldorsson, Gisli H., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gunnarsdottir, Kristbjorg, Försti, Asta, Goldschmidt, Hartmut, Hemminki, Kari, van Rhee, Frits, Kimber, Scott, Sperling, Adam S., Kaiser, Martin, Anderson, Kenneth, Jonsdottir, Ingileif, Munshi, Nikhil, Rafnar, Thorunn, Waage, Anders, Weinhold, Niels, Thorsteinsdottir, Unnur, Sankaran, Vijay G., Stefansson, Kari, Houlston, Richard, and Nilsson, Björn
- Published
- 2022
- Full Text
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8. Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk
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Duran-Lozano, Laura, Thorleifsson, Gudmar, Lopez de Lapuente Portilla, Aitzkoa, Niroula, Abhishek, Went, Molly, Thodberg, Malte, Pertesi, Maroulio, Ajore, Ram, Cafaro, Caterina, Olason, Pall I., Stefansdottir, Lilja, Bragi Walters, G., Halldorsson, Gisli H., Turesson, Ingemar, Kaiser, Martin F., Weinhold, Niels, Abildgaard, Niels, Andersen, Niels Frost, Mellqvist, Ulf-Henrik, Waage, Anders, Juul-Vangsted, Annette, Thorsteinsdottir, Unnur, Hansson, Markus, Houlston, Richard, Rafnar, Thorunn, Stefansson, Kari, and Nilsson, Björn
- Published
- 2021
- Full Text
- View/download PDF
9. Germline variants at SOHLH2 influence multiple myeloma risk
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Duran-Lozano, Laura, Thorleifsson, Gudmar, Lopez de Lapuente Portilla, Aitzkoa, Niroula, Abhishek, Went, Molly, Thodberg, Malte, Pertesi, Maroulio, Ajore, Ram, Cafaro, Caterina, Olason, Pall I., Stefansdottir, Lilja, Bragi Walters, G., Halldorsson, Gisli H., Turesson, Ingemar, Kaiser, Martin F., Weinhold, Niels, Abildgaard, Niels, Andersen, Niels Frost, Mellqvist, Ulf-Henrik, Waage, Anders, Juul-Vangsted, Annette, Thorsteinsdottir, Unnur, Hansson, Markus, Houlston, Richard, Rafnar, Thorunn, Stefansson, Kari, and Nilsson, Björn
- Published
- 2021
- Full Text
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10. Genetic regulation of fetal hemoglobin across global populations
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Cato, Liam D, Li, Rick, Lu, Henry Y, Yu, Fulong, Wissman, Mariel, Mkumbe, Baraka S, Ekwattanakit, Supachai, Deelen, Patrick, Mwita, Liberata, Sangeda, Raphael Zozimus, Suksangpleng, Thidarat, Riolueang, Suchada, Bronson, Paola G, Paul, Dirk S, Kawabata, Emily, Astle, William J, Aguet, Francois, Ardlie, Kristin, Lopez de Lapuente Portilla, Aitzkoa, Kang, Guolian, Zhang, Yingze, Nouraie, Seyed Mehdi, Gordeuk, Victor R, Gladwin, Mark T, Garrett, Melanie E, Ashley-Koch, Allison, Telen, Marilyn J, Custer, Brian, Kelly, Shannon, DINARDO, CARLA, Sabino, Ester Cerdeira, Loureiro, Paula, Carneiro-Proietti, Anna Barbara, Maximo, Claudia, Mendez, Adriana, Hammerer-Lercher, Angelika, Sheehan, Vivien A, Weiss, Mitchell J, Franke, Lude, Nilsson, Bjorn, Butterworth, Adam S, Viprakasit, Vip, Nkya, Siana, and Sankaran, Vijay G.
- Subjects
Article - Abstract
Human genetic variation has enabled the identification of several key regulators of fetal-to-adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However, despite the progress made, limited further insights have been obtained to provide a fuller accounting of how genetic variation contributes to the global mechanisms of fetal hemoglobin (HbF) gene regulation. Here, we have conducted a multi-ancestry genome-wide association study of 28,279 individuals from several cohorts spanning 5 continents to define the architecture of human genetic variation impacting HbF. We have identified a total of 178 conditionally independent genome-wide significant or suggestive variants across 14 genomic windows. Importantly, these new data enable us to better define the mechanisms by which HbF switching occurs in vivo. We conduct targeted perturbations to define BACH2 as a new genetically-nominated regulator of hemoglobin switching. We define putative causal variants and underlying mechanisms at the well-studied BCL11A and HBS1L-MYB loci, illuminating the complex variant-driven regulation present at these loci. We additionally show how rare large-effect deletions in the HBB locus can interact with polygenic variation to influence HbF levels. Our study paves the way for the next generation of therapies to more effectively induce HbF in sickle cell disease and β-thalassemia.
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- 2023
11. De unga gör helt rätt när de stämmer staten
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Moberg, Christina, Corvellec, Hervé, Lindroth, Anders, Isacson, Manuela, Nilsson, Linn, Nicholas, Kimberly, Björck, Svante, Lee, Jayeon, Gerle, Elisabeth, Caretta, Martina Angela, Galafassi, Diego, Hornborg, Alf, Ullström, Sara, Olsson, Lennart, Jerneck, Anne, Koch, Max, Roldin, Pontus, Sunesson, Sune, Kritzberg, Emma, Hammarlund, Dan, Wamsler, Christine, Krause, Torsten, Tyler, Torbjörn, Malmqvist, Ebba, Osberg, Gustav, Reindl, Katharina, Lefstad, Lina, Björnerås, Caroline, De Rosa, Salvatore Paolo, Koglin, Till, Bjermo, Tim, Isaxon, Christina, Isgren, Ellinor, Richter, Jessika Luth, Johansson, Erik, Jarenmark, Martin, Friberg, Johan, Wårlind, David, Jack, Tullia, Holmberg, Karl, Bergman Rosamond, Annika, Vogl, Valentin, Olofsson, Johanna, Magalhaes Teixeira, Barbara, Palm, Ellen, Algers, Jonas, Gjerløv Fiig, Natasha Amalie, Ramasar, Vasna, Lopez de Lapuente Portilla, Aitzkoa, Khan, Jamil, Palm, Jenny, Haraldsson, Joakim, Barmark, Mimmi, Stroh, Emilie, Filipsson, Helena L., Sernhed, Kerstin, Wengelin, Mattias, Bauer, Fredric, Persson, Tomas, Brandstedt, Eric, Mccormick, Kes, Carton, Wim, Stattin, Simon, Gren, Nina, Nikoleris, Alexandra, Wickenberg, Per, Garson, Katja, Zackari, Karin, Droste, Nils, Gunnemyr, Mattias, Hansson, L-A, Lantz, Emelie, Sternudd, Catharina, Ekström, Hanna, Jonsson, Anna, Dahlner, Anders, Sörgärde, Nadja, Alcer, David, Rennstam, Jens, Gabrielsson, Sara, Ottosson, Mikael, Eklundh, Lars, Andersson, Magnus, Schwarz, Jesper, Tilsted, Joachim Peter, Kiss, Bernadett, Halldenius, Lena, Knaggård, Åsa, Persson, Andreas, Kolte, Olof, Lindh, Linnea, Chertkovskaya, Ekaterina, Hultman, Mats, Thånell, Karina, Manners, Ian, Kristensson, Adam, Nieradzik, Lars, Lundberg, Anna, Cronberg, Nils, Rydhe, Eskil, Klemmensen, Robert, Herlitz, Anders, Perrey, Hanno, Pugh, Rhiannon, Björkdahl, Annika, Lundberg, Tove, Mårsell, Erik, Samper, Juan Antonio, Sandström, Ida, Ståhl, Lars-Henrik, Prentice, Honor C, Carlson, Stefan, Andréasson, Per-Gunnar, Liljas, Anders, Zalar, Alva, Fridlund, Patrik, Sporre, Moa, Löndahl, Jakob, Björling, Fiona, Kalm, Sara, Barinaga, Ester, Mulinari, Shai, Mulinari, Diana, Lindqvist, Anna, Vestberg, Susanna, Claréus, Benjamin, Boije af Gennäs Erre, Ellen, Viborg, Gardar, Nilsson, Kjell, Tagesson, Alexander, Brogaard, Sara, Davidson, Per, Harrie, Lars, Elvén Eriksson, Helena, Hickmann, Thomas, Fauré, Eléonore, Wullenkord, Marlis, Giertz, Anders, Germundsson, Tomas, Nilsson, Frida L, Montesino, Norma, Sjöström, Cheryl, Pettersson, Gert, Alkan Olsson, Johanna, Cardeña, Etzel, Mottaghi, Misagh, Sundkvist, Emma, Tellhed, Una, Mundaca, Luis, Lindström, Lena, Sörensen, Johanna, Mobini, Shifteh, Hederström, Veronica, Becker, Per, Klysing, Amanda, Mattisson, Kristoffer, Svensson, Jakob, Svenbro, Maja, Hanson, Helena, Oudin, Anna, Flanagan, Erin, Takman, Maria, Ritthammer, Sofia, Månefjord, Josefin, Sonander, Anna, Nafstad, Ida, Sjöström, Peter, Dietler, Dominik, Hassel, Henrik, Käll, Jannice, Akselsson, Roland, Bohgard, Mats, Ingvarson, Johan, Steen, Karin, Cedergren, Alexander, Nordbeck, Patric, Davidsson, Simon, Angelöw, Amanda, Ahrné, Siv, Lantto, Reid, Psouni, Elia, Nicoson, Christie, Jeppsson, Bengt, Côte, Muriel, Alvesson, Mats, Leo Sandberg, Elinn, Möllergren, Glenn, Karlsson, Daniel, Bäckman, Johan, Angelopulos Baroutsis, Nicoletta, Alenius Wallin, Linn, Lundell, Elin, Stedt, Johanna, Forsberg, Klara, Gnewski, Martina, Larsson, Marie, Grillitsch, Markus, Takedomi Karlsson, Mariko, Månefjord, Hampus, Giese, Laura, Betsholtz, Alexander, Wrisberg, Anton, Söderlind, Marie, Vilhelmsson, Andreas, Stedt, Kristoffer, al., et, Moberg, Christina, Corvellec, Hervé, Lindroth, Anders, Isacson, Manuela, Nilsson, Linn, Nicholas, Kimberly, Björck, Svante, Lee, Jayeon, Gerle, Elisabeth, Caretta, Martina Angela, Galafassi, Diego, Hornborg, Alf, Ullström, Sara, Olsson, Lennart, Jerneck, Anne, Koch, Max, Roldin, Pontus, Sunesson, Sune, Kritzberg, Emma, Hammarlund, Dan, Wamsler, Christine, Krause, Torsten, Tyler, Torbjörn, Malmqvist, Ebba, Osberg, Gustav, Reindl, Katharina, Lefstad, Lina, Björnerås, Caroline, De Rosa, Salvatore Paolo, Koglin, Till, Bjermo, Tim, Isaxon, Christina, Isgren, Ellinor, Richter, Jessika Luth, Johansson, Erik, Jarenmark, Martin, Friberg, Johan, Wårlind, David, Jack, Tullia, Holmberg, Karl, Bergman Rosamond, Annika, Vogl, Valentin, Olofsson, Johanna, Magalhaes Teixeira, Barbara, Palm, Ellen, Algers, Jonas, Gjerløv Fiig, Natasha Amalie, Ramasar, Vasna, Lopez de Lapuente Portilla, Aitzkoa, Khan, Jamil, Palm, Jenny, Haraldsson, Joakim, Barmark, Mimmi, Stroh, Emilie, Filipsson, Helena L., Sernhed, Kerstin, Wengelin, Mattias, Bauer, Fredric, Persson, Tomas, Brandstedt, Eric, Mccormick, Kes, Carton, Wim, Stattin, Simon, Gren, Nina, Nikoleris, Alexandra, Wickenberg, Per, Garson, Katja, Zackari, Karin, Droste, Nils, Gunnemyr, Mattias, Hansson, L-A, Lantz, Emelie, Sternudd, Catharina, Ekström, Hanna, Jonsson, Anna, Dahlner, Anders, Sörgärde, Nadja, Alcer, David, Rennstam, Jens, Gabrielsson, Sara, Ottosson, Mikael, Eklundh, Lars, Andersson, Magnus, Schwarz, Jesper, Tilsted, Joachim Peter, Kiss, Bernadett, Halldenius, Lena, Knaggård, Åsa, Persson, Andreas, Kolte, Olof, Lindh, Linnea, Chertkovskaya, Ekaterina, Hultman, Mats, Thånell, Karina, Manners, Ian, Kristensson, Adam, Nieradzik, Lars, Lundberg, Anna, Cronberg, Nils, Rydhe, Eskil, Klemmensen, Robert, Herlitz, Anders, Perrey, Hanno, Pugh, Rhiannon, Björkdahl, Annika, Lundberg, Tove, Mårsell, Erik, Samper, Juan Antonio, Sandström, Ida, Ståhl, Lars-Henrik, Prentice, Honor C, Carlson, Stefan, Andréasson, Per-Gunnar, Liljas, Anders, Zalar, Alva, Fridlund, Patrik, Sporre, Moa, Löndahl, Jakob, Björling, Fiona, Kalm, Sara, Barinaga, Ester, Mulinari, Shai, Mulinari, Diana, Lindqvist, Anna, Vestberg, Susanna, Claréus, Benjamin, Boije af Gennäs Erre, Ellen, Viborg, Gardar, Nilsson, Kjell, Tagesson, Alexander, Brogaard, Sara, Davidson, Per, Harrie, Lars, Elvén Eriksson, Helena, Hickmann, Thomas, Fauré, Eléonore, Wullenkord, Marlis, Giertz, Anders, Germundsson, Tomas, Nilsson, Frida L, Montesino, Norma, Sjöström, Cheryl, Pettersson, Gert, Alkan Olsson, Johanna, Cardeña, Etzel, Mottaghi, Misagh, Sundkvist, Emma, Tellhed, Una, Mundaca, Luis, Lindström, Lena, Sörensen, Johanna, Mobini, Shifteh, Hederström, Veronica, Becker, Per, Klysing, Amanda, Mattisson, Kristoffer, Svensson, Jakob, Svenbro, Maja, Hanson, Helena, Oudin, Anna, Flanagan, Erin, Takman, Maria, Ritthammer, Sofia, Månefjord, Josefin, Sonander, Anna, Nafstad, Ida, Sjöström, Peter, Dietler, Dominik, Hassel, Henrik, Käll, Jannice, Akselsson, Roland, Bohgard, Mats, Ingvarson, Johan, Steen, Karin, Cedergren, Alexander, Nordbeck, Patric, Davidsson, Simon, Angelöw, Amanda, Ahrné, Siv, Lantto, Reid, Psouni, Elia, Nicoson, Christie, Jeppsson, Bengt, Côte, Muriel, Alvesson, Mats, Leo Sandberg, Elinn, Möllergren, Glenn, Karlsson, Daniel, Bäckman, Johan, Angelopulos Baroutsis, Nicoletta, Alenius Wallin, Linn, Lundell, Elin, Stedt, Johanna, Forsberg, Klara, Gnewski, Martina, Larsson, Marie, Grillitsch, Markus, Takedomi Karlsson, Mariko, Månefjord, Hampus, Giese, Laura, Betsholtz, Alexander, Wrisberg, Anton, Söderlind, Marie, Vilhelmsson, Andreas, Stedt, Kristoffer, and al., et
- Abstract
1 620 forskare och lärare i forskarvärlden: Vi ställer oss bakom Auroras klimatkrav
- Published
- 2022
12. The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
- Author
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Gómez-Fernández, Paloma, Lopez de Lapuente Portilla, Aitzkoa, Astobiza, Ianire, Mena, Jorge, Urtasun, Andoni, Altmann, Vivian, Matesanz, Fuencisla, Otaegui, David, Urcelay, Elena, Antigüedad, Alfredo, Malhotra, Sunny, Montalban, Xavier, Castillo-Triviño, Tamara, Espino-Paisán, Laura, Aktas, Orhan, Buttmann, Mathias, Chan, Andrew, Fontaine, Bertrand, Gourraud, Pierre-Antoine, Hecker, Michael, Hoffjan, Sabine, Kubisch, Christian, Kümpfel, Tania, Luessi, Felix, Zettl, Uwe K., Zipp, Frauke, Alloza, Iraide, Comabella, Manuel, Lill, Christina M., Vandenbroeck, Koen, Universitat Autònoma de Barcelona, Gómez-Fernández, Paloma, Lopez de Lapuente Portilla, Aitzkoa, Astobiza, Ianire, Mena, Jorge, Urtasun, Andoni, Altmann, Vivian, Matesanz, Fuencisla, Otaegui, David, Urcelay, Elena, Antigüedad, Alfredo, Malhotra, Sunny, Montalban, Xavier, Castillo-Triviño, Tamara, Espino-Paisán, Laura, Aktas, Orhan, Buttmann, Mathias, Chan, Andrew, Fontaine, Bertrand, Gourraud, Pierre-Antoine, Hecker, Michael, Hoffjan, Sabine, Kubisch, Christian, Kümpfel, Tania, Luessi, Felix, Zettl, Uwe K., Zipp, Frauke, Alloza, Iraide, Comabella, Manuel, Lill, Christina M., Vandenbroeck, Koen, and Universitat Autònoma de Barcelona
- Abstract
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 × 10 −4). Importantly, logistic regression analyses conditioning on the main known MS-associated SNP at this locus, rs17066096, revealed that this association was independent from the primary association signal in the full case-control dataset. In silico analysis predicted both disruption of the alpha helix of the H-region of the SP and decreased hydrophobicity of this region, ultimately affecting the SP cleavage site. We tested the effect of the p.Leu16Pro variant on the secretion of IL-22BPi1, IL-22BPi2 and IL-22BPi3 and observed that the Pro16 risk allele significantly lowers secretion levels of each of the isoforms to around 50%-60% in comparison to the Leu16 reference allele. Thus, our study suggests that genetically coded decreased levels of IL-22BP isoforms are associated with augmented risk for MS
- Published
- 2020
13. The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
- Author
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Gómez-Fernández, Paloma, primary, Lopez de Lapuente Portilla, Aitzkoa, additional, Astobiza, Ianire, additional, Mena, Jorge, additional, Urtasun, Andoni, additional, Altmann, Vivian, additional, Matesanz, Fuencisla, additional, Otaegui, David, additional, Urcelay, Elena, additional, Antigüedad, Alfredo, additional, Malhotra, Sunny, additional, Montalban, Xavier, additional, Castillo-Triviño, Tamara, additional, Espino-Paisán, Laura, additional, Aktas, Orhan, additional, Buttmann, Mathias, additional, Chan, Andrew, additional, Fontaine, Bertrand, additional, Gourraud, Pierre-Antoine, additional, Hecker, Michael, additional, Hoffjan, Sabine, additional, Kubisch, Christian, additional, Kümpfel, Tania, additional, Luessi, Felix, additional, Zettl, Uwe K., additional, Zipp, Frauke, additional, Alloza, Iraide, additional, Comabella, Manuel, additional, Lill, Christina M., additional, and Vandenbroeck, Koen, additional
- Published
- 2020
- Full Text
- View/download PDF
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