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1. Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

Author

Hautakangas, Heidi, Winsvold, Bendik S., Ruotsalainen, Sanni E., Bjornsdottir, Gyda, Harder, Aster V. E., Kogelman, Lisette J. A., Thomas, Laurent F., Noordam, Raymond, Benner, Christian, Gormley, Padhraig, Artto, Ville, Banasik, Karina, Bjornsdottir, Anna, Boomsma, Dorret I., Brumpton, Ben M., Burgdorf, Kristoffer Sølvsten, Buring, Julie E., Chalmer, Mona Ameri, de Boer, Irene, Dichgans, Martin, Erikstrup, Christian, Färkkilä, Markus, Garbrielsen, Maiken Elvestad, Ghanbari, Mohsen, Hagen, Knut, Häppölä, Paavo, Hottenga, Jouke-Jan, Hrafnsdottir, Maria G., Hveem, Kristian, Johnsen, Marianne Bakke, Kähönen, Mika, Kristoffersen, Espen S., Kurth, Tobias, Lehtimäki, Terho, Lighart, Lannie, Magnusson, Sigurdur H., Malik, Rainer, Pedersen, Ole Birger, Pelzer, Nadine, Penninx, Brenda W. J. H., Ran, Caroline, Ridker, Paul M., Rosendaal, Frits R., Sigurdardottir, Gudrun R., Skogholt, Anne Heidi, Sveinsson, Olafur A., Thorgeirsson, Thorgeir E., Ullum, Henrik, Vijfhuizen, Lisanne S., Widén, Elisabeth, van Dijk, Ko Willems, Aromaa, Arpo, Belin, Andrea Carmine, Freilinger, Tobias, Ikram, M. Arfan, Järvelin, Marjo-Riitta, Raitakari, Olli T., Terwindt, Gisela M., Kallela, Mikko, Wessman, Maija, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Stefánsson, Hreinn, Stefansson, Kari, van den Maagdenberg, Arn M. J. M., Hansen, Thomas Folkmann, Ripatti, Samuli, Zwart, John-Anker, Palotie, Aarno, and Pirinen, Matti

Published
2022
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2. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Author

Bakker, Mark K., Kanning, Jos P., Abraham, Gad, Martinsen, Amy E., Winsvold, Bendik S., Zwart, John-Anker, Bourcier, Romain, Sawada, Tomonobu, Koido, Masaru, Kamatani, Yoichiro, Morel, Sandrine, Amouyel, Philippe, Debette, Stéphanie, Bijlenga, Philippe, Berrandou, Takiy, Ganesh, Santhi K., Bouatia-Naji, Nabila, Jones, Gregory, Bown, Matthew, Rinkel, Gabriel J.E., Veldink, Jan H., Ruigrok, Ynte M., Hege Aamodt, Anne, Heidi Skogholt, Anne, Brumpton, Ben M, Willer, Cristen J, Sandset, Else C, Kristoffersen, Espen S, Ellekjær, Hanne, Heuch, Ingrid, Nielsen, Jonas B, Hagen, Knut, Hveem, Kristian, Fritsche, Lars G, Thomas, Laurent F, Pedersen, Linda M, Gabrielsen, Maiken E, Holmen, Oddgeir L, Børte, Sigrid, Zhou, Wei, Abboud, Shérine, Pandolfo, Massimo, Thijs, Vincent, Leys, Didier, Bodenant, Marie, Louillet, Fabien, Touzé, Emmanuel, Mas, Jean-Louis, Samson, Yves, Leder, Sara, Léger, Anne, Deltour, Sandrine, Crozier, Sophie, Méresse, Isabelle, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Béjot, Yannick, Decavel, Pierre, Medeiros, Elizabeth, Montiel, Paola, Moulin, Thierry, Vuillier, Fabrice, Dallongeville, Jean, Metso, Antti J, Metso, Tiina, Tatlisumak, Turgut, Grond-Ginsbach, Caspar, Lichy, Christoph, Kloss, Manja, Werner, Inge, Arnold, Marie-Luise, Dos Santos, Michael, Grau, Armin, Dichgans, Martin, Thomas-Feles, Constanze, Weber, Ralf, Brandt, Tobias, Pezzini, Alessandro, De Giuli, Valeria, Caria, Filomena, Poli, Loris, Padovani, Alessandro, Bersano, Anna, Lanfranconi, Silvia, Beretta, Simone, Ferrarese, Carlo, Giacolone, Giacomo, Paolucci, Stefano, Lyrer, Philippe, Engelter, Stefan, Fluri, Felix, Hatz, Florian, Gisler, Dominique, Bonati, Leo, Gensicke, Henrik, Amort, Margareth, Markus, Hugh, Majersik, Jennifer, Worrall, Bradford, Southerland, Andrew, Cole, John, Kittner, Steven, Evangelou, Evangelos, Warren, Helen R, Gao, He, Ntritsos, Georgios, Dimou, Niki, Esko, Tonu, Mägi, Reedik, Milani, Lili, Almgren, Peter, Boutin, Thibaud, Ding, Jun, Giulianini, Franco, Holliday, Elizabeth G, Jackson, Anne U, Li-Gao, Ruifang, Lin, Wei-Yu, Luan, Jian’an, Mangino, Massimo, Oldmeadow, Christopher, Peter Prins, Bram, Qian, Yong, Sargurupremraj, Muralidharan, Shah, Nabi, Surendran, Praveen, Thériault, Sébastien, Verweij, Niek, Willems, Sara M, Zhao, Jing-Hua, Connell, John, de Mutsert, Renée, Doney, Alex SF, Farrall, Martin, Menni, Cristina, Morris, Andrew D, Noordam, Raymond, Paré, Guillaume, Poulter, Neil R, Shields, Denis C, Stanton, Alice, Thom, Simon, Abecasis, Gonçalo, Amin, Najaf, Arking, Dan E, Ayers, Kristin L, Barbieri, Caterina M, Batini, Chiara, Bis, Joshua C, Blake, Tineka, Bochud, Murielle, Boehnke, Michael, Boerwinkle, Eric, Boomsma, Dorret I, Bottinger, Erwin P, Braund, Peter S, Brumat, Marco, Campbell, Archie, Campbell, Harry, Chakravarti, Aravinda, Chambers, John C, Chauhan, Ganesh, Ciullo, Marina, Cocca, Massimiliano, Collins, Francis, Cordell, Heather J, Davies, Gail, de Borst, Martin H, de Geus, Eco J, Deary, Ian J, Deelen, Joris, Del Greco M, Fabiola, Yusuf Demirkale, Cumhur, Dörr, Marcus, Ehret, Georg B, Elosua, Roberto, Enroth, Stefan, Mesut Erzurumluoglu, A, Ferreira, Teresa, Frånberg, Mattias, Franco, Oscar H, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Goel, Anuj, Gow, Alan J, Gudnason, Vilmundur, Guo, Xiuqing, Gyllensten, Ulf, Hamsten, Anders, Harris, Tamara B, Harris, Sarah E, Hartman, Catharina A, Havulinna, Aki S, Hicks, Andrew A, Hofer, Edith, Hofman, Albert, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Shih-Jen, Ingelsson, Erik, James, Alan, Jansen, Rick, Jarvelin, Marjo-Riitta, Joehanes, Roby, Johansson, Åsa, Johnson, Andrew D, Joshi, Peter K, Jousilahti, Pekka, Wouter Jukema, J, Jula, Antti, Kähönen, Mika, Kathiresan, Sekar, Keavney, Bernard D, Khaw, Kay-Tee, Knekt, Paul, Knight, Joanne, Kolcic, Ivana, Kooner, Jaspal S, Koskinen, Seppo, Kristiansson, Kati, Kutalik, Zoltan, Laan, Maris, Larson, Marty, Launer, Lenore J, Lehne, Benjamin, Lehtimäki, Terho, Liewald, David CM, Lin, Li, Lind, Lars, Lindgren, Cecilia M, Liu, YongMei, Loos, Ruth JF, Lopez, Lorna M, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamasoula, Chrysovalanto, Marrugat, Jaume, Marten, Jonathan, Milaneschi, Yuri, Morgan, Anna, Morris, Andrew P, Morrison, Alanna C, Munson, Peter J, Nalls, Mike A, Nandakumar, Priyanka, Nelson, Christopher P, Niiranen, Teemu, Nolte, Ilja M, Nutile, Teresa, Oldehinkel, Albertine J, Oostra, Ben A, O’Reilly, Paul F, Org, Elin, Padmanabhan, Sandosh, Palmas, Walter, Palotie, Aarno, Pattie, Alison, WJH Penninx, Brenda, Perola, Markus, Peters, Annette, Polasek, Ozren, Pramstaller, Peter P, Tri Nguyen, Quang, Raitakari, Olli T, Rettig, Rainer, Rice, Kenneth, Ridker, Paul M, Ried, Janina S, Riese, Harriëtte, Ripatti, Samuli, Robino, Antonietta, Rose, Lynda M, Rotter, Jerome I, Rudan, Igor, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia F, Salomaa, Veikko, Samani, Nilesh J, Sarin, Antti-Pekka, Schmidt, Reinhold, Schmidt, Helena, Shrine, Nick, Siscovick, David, Smith, Albert V, Snieder, Harold, Sõber, Siim, Sorice, Rossella, Starr, John M, Stott, David J, Strachan, David P, Strawbridge, Rona J, Sundström, Johan, Swertz, Morris A, Taylor, Kent D, Teumer, Alexander, Tobin, Martin D, Tomaszewski, Maciej, Toniolo, Daniela, Traglia, Michela, Trompet, Stella, Tuomilehto, Jaakko, Tzourio, Christophe, Uitterlinden, André G, Vaez, Ahmad, van der Most, Peter J, van Duijn, Cornelia M, Verwoert, Germaine C, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Vuckovic, Dragana, Watkins, Hugh, Wild, Sarah H, Willemsen, Gonneke, Wilson, James F, Wright, Alan F, Yao, Jie, Zemunik, Tatijana, Zhang, Weihua, Attia, John R, Butterworth, Adam S, Chasman, Daniel I, Conen, David, Cucca, Francesco, Danesh, John, Hayward, Caroline, Howson, Joanna MM, Laakso, Markku, Lakatta, Edward G, Langenberg, Claudia, Melander, Olle, Mook-Kanamori, Dennis O, Palmer, Colin NA, Risch, Lorenz, Scott, Robert A, Scott, Rodney J, Sever, Peter, Spector, Tim D, van der Harst, Pim, Wareham, Nicholas J, Zeggini, Eleftheria, Levy, Daniel, Munroe, Patricia B, Newton-Cheh, Christopher, Brown, Morris J, Metspalu, Andres, Psaty, Bruce M., Wain, Louise V, Elliott, Paul, Caulfield, Mark J, Gormley, Padhraig, Anttila, Verneri, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Gudlaug Hrafnsdottir, Maria, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Francke Christensen, Anne, Folkmann Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Arfan Ikram, M, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Boomsma, Dorret I, Davey Smith, George, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno, Akiyama, Masato, Alg, Varinder S., Børte, Sigrid, Broderick, Joseph P., Brumpton, Ben M., Dauvillier, Jérôme, Desal, Hubert, Dina, Christian, Friedrich, Christoph M., Gaál-Paavola, Emília I., Gentric, Jean-Christophe, Hirsch, Sven, Hostettler, Isabel C., Houlden, Henry, Hveem, Kristian, Jääskeläinen, Juha E., Johnsen, Marianne Bakke, Li, Liming, Lin, Kuang, Lindgren, Antti, Martin, Olivier, Matsuda, Koichi, Millwood, Iona Y., Naggara, Olivier, Niemelä, Mika, Pera, Joanna, Redon, Richard, Rouleau, Guy A., Sandvei, Marie Søfteland, Schilling, Sabine, Shotar, Eimad, Slowik, Agnieszka, Terao, Chikashi, Verschuren, W. M. Monique, Walters, Robin G., Werring, David J., Willer, Cristen J., Woo, Daniel, Worrall, Bradford B., and Zhou, Sirui

Published
2023
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4. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author

Jacobsen, Kaya K, Nievergelt, Caroline M, Zayats, Tetyana, Greenwood, Tiffany A, Anttila, Verneri, Akiskal, Hagop S, Consortium, BiGS, Consortium, IHG, include:, BiGS Consortium Co-Authors, Kelsoe, John R, McKinney, Rebecca, Shilling, Paul D, Smith, Erin N, Schork, Nicholas J, Bloss, Cinnamon S, Nurnberger, John I, Edenberg, Howard J, Foroud, Tatiana, Koller, Daniel L, Gershon, Elliot S, Badner, Judith A, Liu, Chunyu, Scheftner, William A, Lawson, William B, Nwulia, Evaristus A, Hipolito, Maria, Potash, James, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J, Berrettini, Wade H, Zandi, Peter P, Mahon, Pamela B, McInnis, Melvin G, Zöllner, Sebastian, Zhang, Peng, Craig, David W, Szelinger, Szabolics, Barrett, Thomas B, Schulze, Thomas G, include:, IHG Consortium Co-Authors, Wedenoja, Juho, Kaunisto, Mari A, Heikkilä, Kauko, Kaprio, Jaakko, Wessman, Maija, Kallela, Mikko, Färkkilä, Markus, Artto, Ville, Aromaa, Arpo, Eriksson, Johan G, Winsvold, Bendik S, Zwart, John-Anker, Gormley, Padhraig, Palotie, Aarno, Kurth, Tobias, Rose, Lynda M, Buring, Julie E, Ridker, Paul M, Chasman, Daniel I, Bettella, Francesco, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, McMahon, George, Davey-Smith, George, Malik, Rainer, Freilinger, Tobias, Wichmann, Heinz Erich, Dichgans, Martin, Muller-Myhsok, Bertram, Meitinger, Thomas, de Vries, Boukje, Terwindt, Gisela, Stam, Anine H, Frants, Rune R, Pelzer, Nadine, Weller, Claudia M, Zielman, Ronald, Ferrari, Michel D, van den Maagdenberg, Arn MJM, Medland, Sarah E, Montgomery, Grant W, Martin, Nicholas G, Nyholt, Dale R, Todt, Unda, Borck, Guntram, Kubisch, Christian, Quaye, Lydia, Williams, Frances MK, Cherkas, Lynn, Koiranen, Markku, Hartikainen, Anna-Liisa, Pouta, Anneli, Jarvelin, Marjo-Riitta, Ikram, M Arfan, and van den Ende, Joyce

Subjects
Biomedical and Clinical Sciences, Neurosciences, Pain Research, Bipolar Disorder, Mental Health, Serious Mental Illness, Brain Disorders, Chronic Pain, Genetics, Mental Illness, Headaches, Migraines, Human Genome, 2.1 Biological and endogenous factors, Neurological, Adult, Carrier Proteins, Comorbidity, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Migraine Disorders, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Bipolar disorder, Migraine, NBEA, Neurobeachin, BiGS Consortium, IHG Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

BackgroundMigraine is a common comorbidity among individuals with bipolar disorder, but the underlying mechanisms for this co-occurrence are poorly understood. The aim of this study was to investigate the genetic background of bipolar patients with and without migraine.MethodsWe performed a genome-wide association analysis contrasting 460 bipolar migraneurs with 914 bipolar patients without migraine from the Bipolar Genome Study (BiGS).ResultsWe identified one genome-wide significant association between migraine in bipolar disorder patients and rs1160720, an intronic single nucleotide polymorphism (SNP) in the NBEA gene (P=2.97 × 10(-8), OR: 1.82, 95% CI: 1.47-2.25), although this was not replicated in a smaller sample of 289 migraine cases.LimitationsOur study is based on self-reported migraine.ConclusionsNBEA encodes neurobeachin, a scaffolding protein primarily expressed in the brain and involved in trafficking of vesicles containing neurotransmitter receptors. This locus has not previously been implicated in migraine per se. We found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder.

Published
2015

5. Molecular genetic overlap between migraine and major depressive disorder

Author

Yang, Yuanhao, Zhao, Huiying, Boomsma, Dorret I, Ligthart, Lannie, Belin, Andrea C., Smith, George Davey, Esko, Tonu, Freilinger, Tobias M., Hansen, Thomas Folkmann, Ikram, M. Arfan, Kallela, Mikko, Kubisch, Christian, Paraskevi, Christofidou, Strachan, David P., Wessman, Maija, The International Headache Genetics Consortium, van den Maagdenberg, Arn M. J. M., Terwindt, Gisela M., and Nyholt, Dale R.

Published
2018
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6. Genetics of migraine

Author

Anttila, Verneri, primary, Wessman, Maija, additional, Kallela, Mikko, additional, and Palotie, Aarno, additional

Published
2018
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7. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author

Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., McKinney, Rebecca, Shilling, Paul D., Smith, Erin N., Schork, Nicholas J., Bloss, Cinnamon S., Nurnberger, John I., Jr., Edenberg, Howard J., Foroud, Tatiana, Koller, Daniel L., Gershon, Elliot S., Badner, Judith A., Liu, Chunyu, Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Potash, James, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Berrettini, Wade H., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zöllner, Sebastian, Zhang, Peng, Craig, David W., Szelinger, Szabolics, Barrett, Thomas B., Schulze, Thomas G., Wedenoja, Juho, Kaunisto, Mari A., Heikkilä, Kauko, Kaprio, Jaakko, Wessman, Maija, Kallela, Mikko, Färkkilä, Markus, Artto, Ville, Aromaa, Arpo, Eriksson, Johan G., Winsvold, Bendik S., Zwart, John-Anker, Gormley, Padhraig, Palotie, Aarno, Kurth, Tobias, Rose, Lynda M., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Bettella, Francesco, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, McMahon, George, Davey-Smith, George, Malik, Rainer, Freilinger, Tobias, Erich Wichmann, Heinz, Dichgans, Martin, Muller-Myhsok, Bertram, Meitinger, Thomas, de Vries, Boukje, Terwindt, Gisela, Stam, Anine H., Frants, Rune R., Pelzer, Nadine, Weller, Claudia M., Zielman, Ronald, Ferrari, Michel D., van den Maagdenberg, Arn M.J.M., Medland, Sarah E., Montgomery, Grant W., Martin, Nicholas G., Nyholt, Dale R., Todt, Unda, Borck, Guntram, Kubisch, Christian, Quaye, Lydia, Williams, Frances M.K., Cherkas, Lynn, Koiranen, Markku, Hartikainen, Anna-Liisa, Pouta, Anneli, Jarvelin, Marjo-Riitta, Arfan Ikram, M., van den Ende, Joyce, Uitterlinden, Andre G., Hofman, Albert, Amin, Najaf, van Duijn, Cornelia, Lehtimäki, Terho, Ligthart, Lannie, Hottenga, Jouke-Jan, Vink, Jacqueline M., Penninx, Brenda W., Boomsma, Dorret I., Schürks, Markus, Jakobsson, Finnbogi, Schoenen, Jean, Heath, Andrew C., Madden, Pamela A.F., Göbel, Hartmut, Heinze, Axel, Heinze-Kuhn, Katja, Schreiber, Stefan, Anttila, Verneri, Daly, Mark J., Alexander, Michael, Raitakari, Olli, Strachan, David P., Jacobsen, Kaya K., Zayats, Tetyana, Akiskal, Hagop S., Haavik, Jan, Bernt Fasmer, Ole, Johansson, Stefan, and Oedegaard, Ketil J.

Published
2015
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8. NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, Häppölä, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepistö, Maija, Hämäläinen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, Wessman, Maija, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Clinicum, HUS Helsinki and Uusimaa Hospital District, HUS Neurocenter, Neurologian yksikkö, Statistical and population genetics, Centre of Excellence in Complex Disease Genetics, Helsinki Institute for Information Technology, Department of Mathematics and Statistics, Biostatistics Helsinki, Department of Public Health, Medicum, Quantitative Genetics, Department of Medical and Clinical Genetics, and Department of Neurosciences

Subjects
IDENTIFICATION, MUTATIONS, FAMILIAL HEMIPLEGIC MIGRAINE, 3112 Neurosciences, General Medicine, RETT-SYNDROME, MECP2, 12q24, comorbidity, RESOURCE, LINKAGE, PROGRAM, linkage analysis, Neurology (clinical), next-generation sequencing (NGS) technologies, Neurological disorder, pathophysiology
Abstract

Hypothesis To identify genetic factors predisposing to migraine-epilepsy phenotype utilizing a multi-generational family with known linkage to chr12q24.2-q24.3. Methods We used single nucleotide polymorphism (SNP) genotyping and next-generation sequencing technologies to perform linkage, haplotype, and variant analyses in an extended Finnish migraine-epilepsy family (n = 120). In addition, we used a large genome-wide association study (GWAS) dataset of migraine and two biobank studies, UK Biobank and FinnGen, to test whether variants within the susceptibility region associate with migraine or epilepsy related phenotypes in a population setting. Results The family showed the highest evidence of linkage (LOD 3.42) between rs7966411 and epilepsy. The haplotype shared among 12 out of 13 epilepsy patients in the family covers almost the entire NCOR2 and co-localizes with one of the risk loci of the recent GWAS on migraine. The haplotype harbors nine low-frequency variants with potential regulatory functions. Three of them, in addition to two common variants, show nominal associations with neurological disorders in either UK Biobank or FinnGen. Conclusion We provide several independent lines of evidence supporting association between migraine-epilepsy phenotype and NCOR2. Our study suggests that NCOR2 may have a role in both migraine and epilepsy and thus would provide evidence for shared pathophysiology underlying these two diseases.

Published
2022

9. Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families

Author

Häppölä, Paavo, Gormley, Padhraig, Nuottamo, Marjo E., Artto, Ville, Sumelahti, Marja Liisa, Nissilä, Markku, Keski-Säntti, Petra, Ilmavirta, Matti, Kaunisto, Mari A., Hämäläinen, Eija I., Ripatti, Samuli, Pirinen, Matti, Wessman, Maija, Palotie, Aarno, Kallela, Mikko, Hansen, Thomas Folkmann, Olesen, Jes, Tampere University, Tays Research Services, Clinical Medicine, Complex Disease Genetics, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE, Clinicum, Neurologian yksikkö, HUS Neurocenter, HUS Helsinki and Uusimaa Hospital District, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Faculty Common Matters (Faculty of Social Sciences), Biostatistics Helsinki, Helsinki Institute for Information Technology, Statistical and population genetics, Department of Mathematics and Statistics, Biosciences, Aarno Palotie / Principal Investigator, and Department of Neurosciences

Subjects
medicine.medical_specialty, Headache Disorders, Migraine Disorders, Migraine with Aura, Consensus criteria, Disease, DISEASE, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Psychiatry, Finland, Migraine, 030304 developmental biology, 0303 health sciences, business.industry, Headache, General Medicine, medicine.disease, 3142 Public health care science, environmental and occupational health, 3. Good health, polygenic risk score, International Classification of Headache Disorders, Polygenic risk score, Neurology (clinical), diagnosis criteria, business, headache, 030217 neurology & neurosurgery
Abstract

Background Migraine is diagnosed using the extensively field-tested International Classification of Headache Disorders (ICHD-3) consensus criteria derived by the International Headache Society. To evaluate the criteria in respect to a measurable biomarker, we studied the relationship between the main ICHD-3 criteria and the polygenic risk score, a measure of common variant burden in migraine. Methods We used linear mixed models to study the correlation of ICHD-3 diagnostic criteria, underlying symptoms, and main diagnoses with the polygenic risk score of migraine in a cohort of 8602 individuals from the Finnish Migraine Genome Project. Results Main diagnostic categories and all underlying diagnostic criteria formed a consistent continuum along the increasing polygenic burden. Polygenic risk was associated with the heterogeneous clinical picture starting from the non-migraine headache (mean 0.07; 95% CI 0.02–0.12; p = 0.008 compared to the non-headache group), to probable migraine (mean 0.13; 95% CI 0.08–0.18; p Conclusions The complex migraine phenotype progressively follows the polygenic burden from individuals with no headache to non-migrainous headache and up to patients with attacks manifesting all the features of the ICHD-3 headache and aura. Results provide further biological support for the ICHD-3 diagnostic criteria.

Published
2022

10. sj-pdf-7-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-7-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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11. sj-pdf-2-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-2-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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12. sj-pdf-1-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-1-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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13. sj-pdf-3-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-3-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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14. sj-pdf-5-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-5-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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15. sj-pdf-6-cep-10.1177_03331024211068065 - Supplemental material for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype

Author

Nuottamo, Marjo Eveliina, H��pp��l��, Paavo, Artto, Ville, Hautakangas, Heidi, Pirinen, Matti, Hiekkalinna, Tero, Ellonen, Pekka, Lepist��, Maija, H��m��l��inen, Eija, Siren, Auli, Lehesjoki, Anna-Elina, Kallela, Mikko, Palotie, Aarno, Kaunisto, Mari Anneli, and Wessman, Maija

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-6-cep-10.1177_03331024211068065 for NCOR2 is a novel candidate gene for migraine-epilepsy phenotype by Marjo Eveliina Nuottamo, Paavo H��pp��l��, Ville Artto, Heidi Hautakangas, Matti Pirinen, Tero Hiekkalinna, Pekka Ellonen, Maija Lepist��, Eija H��m��l��inen, International Headache Genetics Consortium (IHGC), FinnGenConsortiumAuli Siren, Anna-Elina Lehesjoki, Mikko Kallela, Aarno Palotie, Mari Anneli Kaunisto and Maija Wessman in Cephalalgia

Published
2022
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16. Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache

Author

The International Headache Genetics Consortium, Siewert, Katherine M., Klarin, Derek, Damrauer, Scott M., Chang, Kyong Mi, Tsao, Philip S., Assimes, Themistocles L., Smith, George Davey, Voight, Benjamin F., Anttila, Verneri, Palta, Priit, Muona, Mikko, Kallela, Kaarlo Mikko, Koiranen, Markku, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Kurki, Mitja Ilari, Hämäläinen, Eija Inkeri, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Männikkö, Minna, Hiekkala, Marjo, Kajanne, Risto, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Järvelin, Marjo-Riitta, Wessman, Maija, Palotie, Aarno, Radiology & Nuclear Medicine, Epidemiology, Internal Medicine, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Medicum, HUS Neurocenter, Clinicum, Department of Neurosciences, Department of Public Health, Neurologian yksikkö, HUS Helsinki and Uusimaa Hospital District, Research Programs Unit, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Centre of Excellence in Complex Disease Genetics, Biosciences, and Aarno Palotie / Principal Investigator

Subjects
0301 basic medicine, Linkage disequilibrium, Genetic correlation, Epidemiology, Migraine Disorders, Population, Genome-wide association study, Bioinformatics, Corrections, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Pleiotropy, Pleiotropism, Mendelian randomization, Humans, Medicine, AcademicSubjects/MED00860, migraine, education, Migraine, education.field_of_study, business.industry, Headache, 3112 Neurosciences, Genetic Pleiotropy, Mendelian Randomization Analysis, General Medicine, medicine.disease, Miscellaneous, Phenotype, 030104 developmental biology, Migranya, Cefalàlgia, business, headache, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Background Nearly a fifth of the world’s population suffer from migraine headache, yet risk factors for this disease are poorly characterized. Methods To further elucidate these factors, we conducted a genetic correlation analysis using cross-trait linkage disequilibrium (LD) score regression between migraine headache and 47 traits from the UK Biobank. We then tested for possible causality between these phenotypes and migraine, using Mendelian randomization. In addition, we attempted replication of our findings in an independent genome-wide association study (GWAS) when available. Results We report multiple phenotypes with genetic correlation (P < 1.06 × 10−3) with migraine, including heart disease, type 2 diabetes, lipid levels, blood pressure, autoimmune and psychiatric phenotypes. In particular, we find evidence that blood pressure directly contributes to migraine and explains a previously suggested causal relationship between calcium and migraine. Conclusions This is the largest genetic correlation analysis of migraine headache to date, both in terms of migraine GWAS sample size and the number of phenotypes tested. We find that migraine has a shared genetic basis with a large number of traits, indicating pervasive pleiotropy at migraine-associated loci.

Published
2020

17. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humanS

Author

Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, and Xavier, Ramnik J.

Subjects
Multidisciplinary, Science & Technology, General Science & Technology, Spectrum (functional analysis), Rare variants, Biology, Constraint (information theory), Multidisciplinary Sciences, Variation (linguistics), Genome Aggregation Database Consortium, Science & Technology - Other Topics, Author Correction, Medical genomics, Algorithm
Abstract

In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, and contributed to the generation of the primary data incorporated into the gnomAD resource. In addition, in the legend to Fig. 1, ‘ten’ should have been ‘seven’ in the sentence: “a, Uniform manifold approximation and projection (UMAP)46,47 plot depicting the ancestral diversity of all individuals in gnomAD, using seven principal components.” The original Article has been corrected online.

Published
2021

18. sj-pdf-1-cep-10.1177_03331024211045651 - Supplemental material for Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families

Author

Häppölä, Paavo, Gormley, Padhraig, Nuottamo, Marjo E, Artto, Ville, Sumelahti, Marja-Liisa, Nissilä, Markku, Keski-Säntti, Petra, Ilmavirta, Matti, Kaunisto, Mari A, Hämäläinen, Eija I, Ripatti, Samuli, Pirinen, Matti, Wessman, Maija, Palotie, Aarno, and Kallela, Mikko

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 110306 Endocrinology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-1-cep-10.1177_03331024211045651 for Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families by Paavo Häppölä, Padhraig Gormley, Marjo E Nuottamo, Ville Artto, Marja-Liisa Sumelahti, Markku Nissilä, Petra Keski-Säntti, Matti Ilmavirta, Mari A Kaunisto, Eija I Hämäläinen, Samuli Ripatti, Matti Pirinen, Maija Wessman, Aarno Palotie, Mikko Kallela and International Headache Genetics Consortium (IHGC) in Cephalalgia

Published
2021
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19. Migreenin geneettinen tausta on monitekijäinen

Author

Wessman, Maija, Nuottamo, Marjo, Kaunisto, Mari, Häppölä, Paavo, Artto, Ville, Kallela, Mikko, Anttila, Verneri, Palotie, Aarno, Suomen molekyylilääketieteen instituutti, Biotieteet, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE, Helsingin yliopisto, Complex Disease Genetics, Clinicum, HUS Helsingin ja Uudenmaan sairaanhoitopiiri, HUS Neurokeskus, Neurologian yksikkö, Neurotieteiden osasto, Aarno Palotie / Vastuullinen tutkija, and Centre of Excellence in Complex Disease Genetics

Subjects
3111 Biolääketieteet, 3112 Neurotieteet
Abstract

Vertaisarvioitu. Migreeni on yleinen neurovaskulaarinen aivosairaus, jolla on vahva geneettinen tausta. Migreenin molekyyligeneettiset tutkimukset 1990-luvulla kohdistuivat harvinaiseen hemiplegiseen migreeniin, joka osoittautui ionikanavataudiksi. Yleisten migreenimuotojen geneettinen tausta alkoi hahmottua 2010-luvulla genominlaajuisten assosiaatiotutkimusten (GWAS) avulla. Tutkimukset ovat paljastaneet kymmeniä yleisiä, vaikutukseltaan vähäisiä migreenin geneettisiä riskivariantteja, erityisesti vaskulaarisissa kudoksissa ilmenevistä geeneistä. On selvinnyt, että aurallisen, aurattoman ja hemiplegisen migreenin riskivariantit ovat osittain samoja. Yleisten riskivarianttien yhteisvaikutus taas selittää migreenin kertymistä perheisiin. Mielenkiintoista on myös se, että migreenillä on yhteisiä geneettisiä riskitekijöitä psyykkisten sairauksien, erityisesti ADHD:n, vakavan masennuksen ja Touretten oireyhtymän kanssa. Riskivarianttien todellinen merkitys migreenin patofysiologiaan selviää vasta toiminnallisten tutkimusten avulla.

Published
2021

20. Cerebral small vessel disease genomics and its implications across the lifespan

Author

International Headache Genomics Consortium (IHGC), International Network against Thrombosis (INVENT) Consortium, Sargurupremraj, Muralidharan, Suzuki, Hideaki, Anttila, Verneri, Palta, Priit, Muona, Mikko, Sarin, Antti-Pekka, Wedenoja, Juho, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Kurki, Mitja, Pärn, Kalle, Hämäläinen, Eija, Eriksson, Johan G., Heikkilä, Kauko, Kaprio, Jaakko, Wessman, Maija, Daly, Mark J., Neale, Benjamin M., Palotie, Aarno, Kallela, Mikko, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, Research Programs Unit, Neuroscience Center, STEMM - Stem Cells and Metabolism Research Program, Clinicum, Department of Public Health, Neurologian yksikkö, HUS Neurocenter, HUS Helsinki and Uusimaa Hospital District, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Helsinki University Hospital Area, University of Helsinki, Biosciences, Centre of Excellence in Complex Disease Genetics, and Department of Neurosciences

Subjects
mental disorders, behavioral disciplines and activities, 3124 Neurology and psychiatry
Abstract

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.

Published
2020

21. Cerebral small vessel disease genomics and its implications across the lifespan

Author

Sargurupremraj, Muralidharan, Suzuki, Hideaki, Zhao, Wei, Okada, Yukinori, Mazoyer, Bernard, Wardlaw, Joanna M, Nyquist, Paul A, Mather, Karen A, Grabe, Hans, Schmidt, Helena, Van Duijn, Cornelia M, Gudnason, Vilmundur, Longstreth, William T, Armstrong, Nicola J, Launer, Lenore J, Lathrop, Mark, Seshadri, Sudha, Tzourio, Christophe, Adams, Hieab H, Matthews, Paul M, Fornage, Myriam, Debette, Stéphanie, Amouyel, Philippe, de Andrade, Mariza, Hofer, Edith, Basu, Saonli, Berr, Claudine, Brody, Jennifer A, Chasman, Daniel I, Dartigues, Jean-Francois, Folsom, Aaron R, Germain, Marine, de Haan, Hugoline, Heit, John, Houwing-Duitermaat, Jeanine, Yanek, Lisa R, Kabrhel, Christopher, Kraft, Peter, Legal, Grégoire, Lindström, Sara, Monajemi, Ramin, Morange, Pierre-Emmanuel, Psaty, Bruce M, Reitsma, Pieter H, Ridker, Paul M, Rose, Lynda M, Hagenaars, Saskia P, Rosendaal, Frits R, Saut, Noémie, Slagboom, Eline, Smadja, David, Smith, Nicholas L, Suchon, Pierre, Tang, Weihong, Taylor, Kent D, Trégouët, David-Alexandre, Kumar, Rajan B, de Visser, Marieke C H, van Hylckama Vlieg, Astrid, Weng, Lu-Chen, Wiggins, Kerri L, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S, Palta, Priit, Esko, Tonu, Pers, Tune H, van den Akker, Erik B, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, McWhirter, Rebekah E, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Trompet, Stella, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Gudlaug Hrafnsdottir, Maria, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Mishra, Aniket, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Jian, Xueqiu, Saba, Yasaman, Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Satizabal, Claudia L, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefanie, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Beaudet, Gregory, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Petit, Laurent, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Francke Christensen, Anne, Folkmann Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Ikram, M Arfan, Tsuchida, Ami, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Zago, Laure, Zwart, John-Anker, Boomsma, Dorret I, Davey Smith, George, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Nyholt, Dale R, Schilling, Sabrina, Palotie, Aarno, Sigurdsson, Sigurdur, Gottesman, Rebecca F, Lewis, Cora E, Sarnowski, Chloé, Aggarwal, Neelum T, Lopez, Oscar L, Smith, Jennifer A, Valdés Hernández, Maria C, van der Grond, Jeroen, Wright, Margaret J, Knol, Maria J, Dörr, Marcus, Thomson, Russell J, Bordes, Constance, Evans, Tavia E, Le Grand, Quentin, Duperron, Marie-Gabrielle, Smith, Albert V, Knopman, David S, Schreiner, Pamela J, Evans, Denis A, Rotter, Jerome I, Beiser, Alexa S, Maniega, Susana Muñoz, Beekman, Marian, Bis, Joshua C, Trollor, Julian, Stott, David J, Vernooij, Meike W, Wittfeld, Katharina, Niessen, Wiro J, Soumaré, Aicha, Boerwinkle, Eric, Sidney, Stephen, Turner, Stephen T, Davies, Gail, Eiriksdottir, Gudny, Thalamuthu, Anbupalam, Völker, Uwe, van Buchem, Mark A, Bryan, R Nick, Dupuis, Josée, Bastin, Mark E, Ames, David, Teumer, Alexander, Kwok, John B, Sakaue, Saori, Bülow, Robin, Deary, Ian J, Schofield, Peter R, Brodaty, Henry, Jiang, Jiyang, Tabara, Yasuharu, Setoh, Kazuya, Miyamoto, Susumu, Yoshida, Kazumichi, Nagata, Manabu, Terzikhan, Natalie, Kamatani, Yoichiro, Matsuda, Fumihiko, Bennett, David A, De Jager, Philip L, Mosley, Thomas H, Sachdev, Perminder S, Schmidt, Reinhold, Warren, Helen R, Evangelou, Evangelos, Habes, Mohamad, Thrombosis, International Network against, Consortium, International Headache Genomics, Ikram, Mohammad A, Wen, Wei, DeCarli, Charles, Srikanth, Velandai K, Jukema, J Wouter, Slagboom, Eline P, Kardia, Sharon L R, Equipe VINTAGE - Inserm U1219 [Bordeaux], Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe d'imagerie neurofonctionnelle (GIN), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), and Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
Adult, Male, epidemiology [Alzheimer Disease], genetics [Alzheimer Disease], diagnosis [Cerebral Small Vessel Diseases], epidemiology [Hypertension], Genome-wide association studies, behavioral disciplines and activities, Risk Assessment, Article, diagnostic imaging [White Matter], Young Adult, Alzheimer Disease, Risk Factors, White matter disease, mental disorders, Humans, Medical History Taking, Aged, Aged, 80 and over, [SCCO.NEUR]Cognitive science/Neuroscience, Mendelian Randomization Analysis, Middle Aged, White Matter, Stroke, Diffusion Tensor Imaging, Genetic Loci, Cerebral Small Vessel Diseases, complications [Cerebral Small Vessel Diseases], Hypertension, genetics [Stroke], genetics [Cerebral Small Vessel Diseases], Female, genetics [Hypertension], ddc:500, epidemiology [Stroke], Genome-Wide Association Study
Abstract

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials., White matter hyperintensities (WMH) are a common brain-imaging feature of cerebral small vessel disease. Here, the authors carry out a GWAS and followup analyses for WMH-volume, implicating several variants with potential for risk stratification and drug targeting.

Published
2020

22. Consistently replicating locus linked to migraine on 10q22-q23

Author

Anttila, Verneri, Nyholt, Dale R., Kallela, Mikko, Artto, Ville, Vepsalainen, Salli, Jakkula, Eveliina, Wennerstrom, Annika, Tikka-Kleemola, Paivi, Kaunisto, Mari A., Hamalainen, Eija, Widen, Elisabeth, Terwilliger, Joseph, Merikangas, Kathleen, Montgomery, Grant W., Martin, Nicholas G., Daly, Mark, Kapiro, Jaakko, Peltonen, Leena, Farkkila, Markus, Wessman, Maija, and Palotie, Aarno

Subjects
DNA replication -- Analysis, Human genome -- Research, Migraine -- Genetic aspects, Biological sciences
Abstract

The article discusses the results obtained from two genome-wide studies, where in several migraine-phenotyping methods detect and replicate a locus on 10q22-q23. The 10q22-q23 locus is shown to contain one or more of the migraine susceptibility variants.

Published
2008

23. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

Author

Guo, Yanjun, Rist, Pamela M., Daghlas, Iyas, Giulianini, Franco, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H.H., Lehtimäki, Terho, Sarin, Antti Pekka, Wedenoja, Juho, Hinds, David A., Buring, Julie E., Schürks, Markus, Ridker, Paul M., Hrafnsdottir, Maria Gudlaug, Stefansson, Hreinn, Ring, Susan M., Hottenga, Jouke Jan, Penninx, Brenda W.J.H., Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C., Madden, Pamela A.F., Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E., Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H., Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G., Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G., Hofman, Albert, Duijn, Cornelia M.van, Cherkas, Lynn, Pedersen, Linda M., Stubhaug, Audun, Nielsen, Christopher S., Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann Louise, Christensen, Anne Francke, Hansen, Thomas Folkmann, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J., Raitakari, Olli, Ikram, M. Arfan, Spector, Tim, Järvelin, Marjo Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P., Ferrari, Michel D., Belin, Andrea C., Dichgans, Martin, Wessman, Maija, Maagdenberg, Arn M.J.M.van den, Zwart, John Anker, Boomsma, Dorret I., Smith, George Davey, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J., Neale, Benjamin M., Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Palotie, Aarno, Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, APH - Mental Health, Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, APH - Digital Health, Radiology & Nuclear Medicine, Epidemiology, Neurology, Internal Medicine, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, APH - Methodology, Clinicum, Neurologian yksikkö, HUS Neurocenter, HUS Helsinki and Uusimaa Hospital District, Department of Neurosciences, Research Programs Unit, Institute for Molecular Medicine Finland, Neuroscience Center, STEMM - Stem Cells and Metabolism Research Program, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Biosciences, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Aarno Palotie / Principal Investigator, Helsinki University Hospital Area, University of Helsinki, Johan Eriksson / Principal Investigator, and Department of General Practice and Primary Health Care

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), Integrin beta Chains, LOCI, Medizin, General Physics and Astronomy, Blood Pressure, Genome-wide association study, Genome-wide association studies, DISEASE, 3124 Neurology and psychiatry, 0302 clinical medicine, HEADACHE, Risk Factors, Polymorphism (computer science), Genome-wide, lcsh:Science, Telomerase, Multidisciplinary, Mendelian Randomization Analysis, Blóðþrýstingur, 3. Good health, Pulse pressure, Mígreni, Hypertension, Blood pressure, Cross-phenotype, Erfðarannsóknir, medicine.medical_specialty, Migraine Disorders, Science, Diastole, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Meta-Analysis as Topic, SDG 3 - Good Health and Well-being, Receptors, Adrenergic, alpha-2, Internal medicine, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, Migraine, business.industry, Proteins, General Chemistry, medicine.disease, Meta-analysis, 030104 developmental biology, Endocrinology, RISK-FACTORS, lcsh:Q, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Publisher's version (útgefin grein), Blood pressure (BP) was inconsistently associated with migraine and the mechanisms of BP-lowering medications in migraine prophylaxis are unknown. Leveraging large-scale summary statistics for migraine (Ncases/Ncontrols = 59,674/316,078) and BP (N = 757,601), we find positive genetic correlations of migraine with diastolic BP (DBP, rg = 0.11, P = 3.56 × 10−06) and systolic BP (SBP, rg = 0.06, P = 0.01), but not pulse pressure (PP, rg = −0.01, P = 0.75). Cross-trait meta-analysis reveals 14 shared loci (P ≤ 5 × 10−08), nine of which replicate (P, This research has been conducted using the UK Biobank Resource under Application Number 29273. We would like to thank the participants and researchers from the UK Biobank, 23andMe, Inc., International Headache Genetics Consortium (IHGC), MEGASTROKE, CARDIoGRAM, and International Consortium of Blood Pressure-Genome Wide Association Studies (ICBP) who contributed or collected data. Daniel I. Chasman is funded by US National Institutes of Health and US National Institute of Neurological Disorders and Stroke (R21NS09296 and R21NS104398). Pamela M. Rist is funded by K01 HL128791. The MEGASTROKE project received funding from sources specified at http://www.megastroke.org/acknowledgments.html.

Published
2020

29. Comorbidity in Finnish migraine families

Author

Artto, Ville, Wessman, Maija, Nissila, Markku, Sako, Erkki, Liukkonen, Jarmo, Teirmaa, Heikki, Harno, Hanna, Havanka, Hannele, Ilmavirta, Matti, Palotie, Aarno, Farkkila, Markus, and Kallela, Mikko

Subjects
Comorbidity -- Risk factors, Comorbidity -- Development and progression, Comorbidity -- Genetic aspects, Migraine -- Complications and side effects, Migraine -- Development and progression, Migraine -- Genetic aspects, Health
Published
2006

31. WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Author

Laine, Christine M., Joeng, Kyu Sang, Campeau, Philippe M., Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T., Pekkinen, Minna, Wessman, Maija, Heino, Terhi J., Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G., Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R., Cohn, Daniel H., Gibbs, Richard A., Lee, Brendan H., and Mäkitie, Outi

Published
2013
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32. Confirmation of the type 2 myotonic dystrophy [(CCTG).sub.n] expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

Author

Bachinski, Linda L., Udd, Bjarne, Meola, Giovanni, Sansone, Valeria, Bassez, Guillaume, Eymard, Bruno, Thornton, Charles A., Moxley, Richard T., Harper, Peter S., Rogers, Mark T., Jurkat-Rott, Karin, Lehmann-Horn, Frank, Wieser, Thomas, Gamez, Josep, Navarro, Carmen, Bottani, Armand, Kohler, Andre, Shriver, Mark D., Sallinen, Riitta, Wessman, Maija, Zhang, Shanxiang, Wright, Fred A., and Krahe, Ralf

Subjects
Myotonic dystrophy -- Genetic aspects, Human genetics -- Research, Genetic disorders -- Research, Gene mutations -- Analysis, Biological sciences
Published
2003

35. A susceptibility locus for migraine with aura, on chromosome 4q24

Author

Wessman, Maija, Kallela, Mikko, Kaunisto, Mari A., Marttila, Pia, Sobel, Eric, Hartiala, Jaana, Oswell, Greg, Leal, Suzanne M., Papp, Jeanette C., Hamalainen, Eija, Broas, Petra, Joslyn, Geoffrey, Hovatta, Iiris, Hiekkalinna, Tero, Kaprio, Jaakko, Ott, Jurg, Cantor, Rita M., Zwart, John-Anker, Ilmavirta, Matti, Havanka, Hannele, Farkkila, Markus, Peltonen, Leena, and Palotie, Aarno

Subjects
Migraine -- Genetic aspects, Headache -- Genetic aspects, Heredity, Human -- Research, Linkage (Genetics) -- Analysis, Biological sciences
Published
2002

37. A high-density association screen of 155 ion transport genes for involvement with common migraine

Author

Nyholt, Dale R., LaForge, K. Steven, Kallela, Mikko, Alakurtti, Kirsi, Anttila, Verneri, Färkkilä, Markus, Hämaläinen, Eija, Kaprio, Jaakko, Kaunisto, Mari A., Heath, Andrew C., Montgomery, Grant W., Göbel, Hartmut, Todt, Unda, Ferrari, Michel D., Launer, Lenore J., Frants, Rune R., Terwindt, Gisela M., de Vries, Boukje, Verschuren, W.M. Monique, Brand, Jan, Freilinger, Tobias, Pfaffenrath, Volker, Straube, Andreas, Ballinger, Dennis G., Zhan, Yiping, Daly, Mark J., Cox, David R., Dichgans, Martin, van den Maagdenberg, Arn M.J.M., Kubisch, Christian, Martin, Nicholas G., Wessman, Maija, Peltonen, Leena, and Palotie, Aarno

Published
2008

38. Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals

Author

Whiffin, Nicola, Karczewski, Konrad J, Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J, Evans, D Gareth, Roberts, Angharad M, Quaife, Nicholas M, Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H, Francioli, Laurent C, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L, Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Karczewski, Konrad J., Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M, Novod, Sam, O’Donnell-Luria, Anne H., Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen, Tolonen, Charlotte, Vittal, Christopher, Wade, Gordon, Wang, Arcturus, Wang, Qingbo, Ware, James S, Watts, Nicholas A, Weisburd, Ben, Salinas, Carlos A Aguilar, Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W, Bown, Matthew J, Chambers, John C, Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong-Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Nilsson, Peter M, O’Donovan, Michael C, Ongur, Dost, Orozco, Lorena, Owen, Michael J, Palmer, Colin N.A., Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Soko, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Watkins, Hugh, Weersma, Rinse K, Wessman, Maija, Wilson, James G., Xavier, Ramnik J., Cook, Stuart A, Barton, Paul J R, and MacArthur, Daniel G

Subjects
0303 health sciences, education.field_of_study, Five prime untranslated region, Population, Computational biology, Biology, Genome, DNA sequencing, Frameshift mutation, 03 medical and health sciences, Negative selection, 0302 clinical medicine, Coding region, education, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Upstream open reading frames (uORFs) are important tissue-specific cis-regulators of protein translation. Although isolated case reports have shown that variants that create or disrupt uORFs can cause disease, genetic sequencing approaches typically focus on protein-coding regions and ignore these variants. Here, we describe a systematic genome-wide study of variants that create and disrupt human uORFs, and explore their role in human disease using 15,708 whole genome sequences collected by the Genome Aggregation Database (gnomAD) project. We show that 14,897 variants that create new start codons upstream of the canonical coding sequence (CDS), and 2,406 variants disrupting the stop site of existing uORFs, are under strong negative selection. Furthermore, variants creating uORFs that overlap the CDS show signals of selection equivalent to coding loss-of-function variants, and uORF-perturbing variants are under strong selection when arising upstream of known disease genes and genes intolerant to loss-of-function variants. Finally, we identify specific genes where perturbation of uORFs is likely to represent an important disease mechanism, and report a novel uORF frameshift variant upstream of NF2 in families with neurofibromatosis. Our results highlight uORF-perturbing variants as an important and under-recognised functional class that can contribute to penetrant human disease, and demonstrate the power of large-scale population sequencing data to study the deleteriousness of specific classes of non-coding variants.

Published
2019
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43. A Quality Assessment Survey of SNP Genotyping Laboratories

Author

Lahermo, Päivi, Liljedahl, Ulrika, Alnaes, Grethe, Axelsson, Tomas, Brookes, Anthony J., Ellonen, Pekka, Groop, Per-Henrik, Halldén, Christer, Holmberg, Dan, Holmberg, Kristina, Keinänen, Mauri, Kepp, Katrin, Kere, Juha, Kiviluoma, Päivi, Kristensen, Vessela, Lindgren, Cecilia, Odeberg, Jacob, Osterman, Pia, Parkkonen, Maija, Saarela, Janna, Sterner, Maria, Strömqvist, Linda, Talas, Ulvi, Wessman, Maija, Palotie, Aarno, and Syvänen, Ann-Christine

Published
2006
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46. Migraine polygenic risk score associates with efficacy of migraine-specific drugs

Author

Kogelman, Lisette JA, Esserlind, Ann-Louise, Christensen, Anne Francke, Awasthi, Swapnil, Ripke, Stephan, Ingason, Andres, Davidsson, Olafur B, Erikstrup, Christian, Hjalgrim, Henrik, Ullum, Henrik, Olesen, Jes, Hansen, Thomas Folkmann, Gudbjartsson, Daniel, Gastafsson, Omar, Stefansson, Kari, Stefansson, Hreinn, Porsteinsdottir, Unnur, Andersen, Steffen, Banasik, Karina, Brunak, Soren, Buil, Alfonso, Burgdorf, Kristoffer, Gregor, Jemec, Jennum, Poul, Nielsen, Kasper Rene, Nyegaard, Mette, Paarup, Helene Mariana, Pedersen, Ole Birger, Sorensen, Erik, Werge, Thomas, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I, Borte, Sigrid, Chasman, Daniel I, Cherkas, Lynn, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Ferrari, Michel, Frants, Rune R, Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M Arfan, Jarvelin, Marjo-Riitta, Kajanne, Risto, Kallela, Mikko, Kaprio, Jaakko, Kaunisto, Mari, Kubisch, Christian, Kurki, Mitja, Kurth, Tobias, Launer, Lenore, Lehtimaki, Terho, Lessel, Davor, Ligthart, Lannie, Litterman, Nadia, van den Maagdenberg, Arn, Macaya, Alfons, Malik, Rainer, Mangino, Massimo, McMahon, George, Muller-Myhsok, Bertram, Neale, Benjamin M, Northover, Carrie, Nyholt, Dale R, Palotie, Aarno, Palta, Priit, Pedersen, Linda, Pedersen, Nancy, Posthuma, Danielle, Pozo-Rosich, Patricia, Pressman, Alice, Raitakari, Olli, Schurks, Markus, Sintas, Celia, Steinberg, Stacy, Strachan, David, Terwindt, Gisela, Vila-Pueyo, Marta, Wessman, Maija, Winsvold, Bendik S, Zhao, Huiying, Zwart, John-Anker, Consortium, DBDS Genomic, Consortium, Int Headache Genetics, Neurologian yksikkö, HUS Helsinki and Uusimaa Hospital District, HUS Neurocenter, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, and Aarno Palotie / Principal Investigator

Subjects
0301 basic medicine, medicine.medical_specialty, SUSCEPTIBILITY LOCI, PHARMACOGENOMICS, Triptans, Logistic regression, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, SCHIZOPHRENIA, Medicine, Migraine treatment, METAANALYSIS, Genetics (clinical), business.industry, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, Area under the curve, Odds ratio, medicine.disease, Confidence interval, 3. Good health, 030104 developmental biology, Migraine, Cohort, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract

ObjectiveTo assess whether the polygenic risk score (PRS) for migraine is associated with acute and/or prophylactic migraine treatment response.MethodsWe interviewed 2,219 unrelated patients at the Danish Headache Center using a semistructured interview to diagnose migraine and assess acute and prophylactic drug response. All patients were genotyped. A PRS was calculated with the linkage disequilibrium pred algorithm using summary statistics from the most recent migraine genome-wide association study comprising ∼375,000 cases and controls. The PRS was scaled to a unit corresponding to a twofold increase in migraine risk, using 929 unrelated Danish controls as reference. The association of the PRS with treatment response was assessed by logistic regression, and the predictive power of the model by area under the curve using a case-control design with treatment response as outcome.ResultsA twofold increase in migraine risk associates with positive response to migraine-specific acute treatment (odds ratio [OR] = 1.25 [95% confidence interval (CI) = 1.05–1.49]). The association between migraine risk and migraine-specific acute treatment was replicated in an independent cohort consisting of 5,616 triptan users with prescription history (OR = 3.20 [95% CI = 1.26–8.14]). No association was found for acute treatment with non–migraine-specific weak analgesics and prophylactic treatment response.ConclusionsThe migraine PRS can significantly identify subgroups of patients with a higher-than-average likelihood of a positive response to triptans, which provides a first step toward genetics-based precision medicine in migraine.

Published
2019

47. Migraine without aura: genome-wide association analysis identifies several novel susceptibility

Author

de Vries, Boukje, Freilinger, Tobias, Anttila, Verneri, Malik, Rainer, Kallela, Mikko, Terwindt, Gisela M, Pozo-Rosich, Patricia, Winsvold, Bendik, Nyholt, Dale R, van Oosterhout, Willebrordus PJ, Artto, Ville, Todt, Unda, Hämäläinen, Eija, Fernández-Morales, Jèssica, Louter, Mark A, Kaunisto, Mari A, Schoenen, Jean, Raitakari, Olli, Lehtimäki, Terho, Vila-Pueyo, Marta, Göbel, Hartmut, Wichmann, Erich, Sintas, Cèlia, Uitterlinden, Andre G, Hofman, Albert, Rivadeneira, Fernando, Heinze, Axel, Tronvik, Erling, van Duijn, Cornelia M, Kaprio, Jaakko, Cormand, Bru, Wessman, Maija, Frants, Rune R, Meitinger, Thomas, Müller-Myhsok, Bertram, Zwart, John-Anker, Färkkilä, Markus, Macaya, Alfons, Ferrari, Michel D, Kubisch, Christian, Palotie, Aarno, Dichgans, Martin, van den Maagdenberg, Arn MJM, and International Headache Genetics Consortium

Published
2013
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49. Leisure-time physical activity is associated with the metabolic syndrome in type 1 diabetes: effect of the PPARγ Pro12Ala polymorphism: the FinnDiane Study

Author

Waden, Johan, Thorn, Lena M., Forsblom, Carol, Lakka, Timo, Saraheimo, Markku, Rosengard-Barlund, Milla, Heikkila, Outi, Wessman, Maija, Turunen, Joni A., Parkkonen, Maija, Tikkanen, Heikki, and Groop, Per-Henrik

Subjects
Exercise -- Health aspects -- Research, Glucose intolerance -- Health aspects -- Research -- Risk factors -- Complications and side effects, Metabolic syndrome X -- Risk factors -- Research -- Complications and side effects, Type 1 diabetes -- Research -- Complications and side effects -- Risk factors, Health, Complications and side effects, Research, Risk factors, Health aspects
Abstract

The metabolic syndrome varies in prevalence among different populations. A common feature, however, is a steep increase in prevalence along with a decrease in glucose tolerance (1-2). We have shown [...]

Published
2007

50. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

Author

Gormley, Padhraig, primary, Kurki, Mitja I., additional, Hiekkala, Marjo Eveliina, additional, Veerapen, Kumar, additional, Häppölä, Paavo, additional, Mitchell, Adele A., additional, Lal, Dennis, additional, Palta, Priit, additional, Surakka, Ida, additional, Kaunisto, Mari Anneli, additional, Hämäläinen, Eija, additional, Vepsäläinen, Salli, additional, Havanka, Hannele, additional, Harno, Hanna, additional, Ilmavirta, Matti, additional, Nissilä, Markku, additional, Säkö, Erkki, additional, Sumelahti, Marja-Liisa, additional, Liukkonen, Jarmo, additional, Sillanpää, Matti, additional, Metsähonkala, Liisa, additional, Koskinen, Seppo, additional, Lehtimäki, Terho, additional, Raitakari, Olli, additional, Männikkö, Minna, additional, Ran, Caroline, additional, Belin, Andrea Carmine, additional, Jousilahti, Pekka, additional, Anttila, Verneri, additional, Salomaa, Veikko, additional, Artto, Ville, additional, Färkkilä, Markus, additional, Runz, Heiko, additional, Daly, Mark J., additional, Neale, Benjamin M., additional, Ripatti, Samuli, additional, Kallela, Mikko, additional, Wessman, Maija, additional, Palotie, Aarno, additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Huber, Karen E., additional, Kleinman, Aaron, additional, Litterman, Nadia K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, Mountain, Joanna L., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Sathirapongsasuti, J. Fah, additional, Sazonova, Olga V., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Vacic, Vladimir, additional, Wilson, Catherine H., additional, Boomsma, Dorret I., additional, Børte, Sigrid, additional, Chasman, Daniel I., additional, Cherkas, Lynn, additional, Christensen, Anne Francke, additional, Cormand, Bru, additional, Cuenca-Leon, Ester, additional, Davey-Smith, George, additional, Dichgans, Martin, additional, van Duijn, Cornelia, additional, Esko, Tonu, additional, Esserlind, Ann-Louise, additional, Ferrari, Michel D., additional, Frants, Rune R., additional, Freilinger, Tobias, additional, Furlotte, Nick, additional, Gormley, Padhraig, additional, Griffiths, Lyn, additional, Hamalainen, Eija, additional, Hansen, Thomas Folkmann, additional, Hiekkala, Marjo, additional, Ikram, M Arfan, additional, Ingason, Andres, additional, Järvelin, Marjo-Riitta, additional, Kajanne, Risto, additional, Kaprio, Jaakko, additional, Kaunisto, Mari, additional, Kubisch, Christian, additional, Kurki, Mitja, additional, Kurth, Tobias, additional, Launer, Lenore, additional, Lehtimaki, Terho, additional, Lessel, Davor, additional, Ligthart, Lannie, additional, Litterman, Nadia, additional, van den Maagdenberg, Arn, additional, Macaya, Alfons, additional, Malik, Rainer, additional, Mangino, Massimo, additional, McMahon, George, additional, Muller-Myhsok, Bertram, additional, Northover, Carrie, additional, Nyholt, Dale R., additional, Olesen, Jes, additional, Pedersen, Linda, additional, Pedersen, Nancy, additional, Posthuma, Danielle, additional, Pozo-Rosich, Patricia, additional, Pressman, Alice, additional, Quaye, Lydia, additional, Schürks, Markus, additional, Sintas, Celia, additional, Stefansson, Kari, additional, Stefansson, Hreinn, additional, Steinberg, Stacy, additional, Strachan, David, additional, Terwindt, Gisela, additional, Vila-Pueyo, Marta, additional, Winsvold, Bendik S., additional, Wrenthal, William, additional, Zhao, Huiying, additional, and Zwart, John-Anker, additional

Published
2018
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