High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene

Autor: Fedik Rahimov, Pekka Nieminen, Priyanka Kumari, Emma Juuri, Tiit Nikopensius, Kitt Paraiso, Jakob German, Antti Karvanen, Mart Kals, Abdelrahman G. Elnahas, Juha Karjalainen, Mitja Kurki, Aarno Palotie, FinnGen, Estonian Biobank Research Team, Arja Heliövaara, Tõnu Esko, Sakari Jukarainen, Priit Palta, Andrea Ganna, Anjali P. Patni, Daniel Mar, Karol Bomsztyk, Julie Mathieu, Hannele Ruohola-Baker, Axel Visel, Walid D. Fakhouri, Brian C. Schutte, Robert A. Cornell, David P. Rice

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)

Abstract In Finland, the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip with or without cleft palate (CL/P). This trend contrasts to that in other European countries but its genetic underpinnings are unknown. We con

Externí odkaz: https://doaj.org/article/deb6024dc0564416a196dc00f1b96ded

Complex trait susceptibilities and population diversity in a sample of 4,145 Russians

Autor: Dmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, Alexander Loboda, Maria Boyarinova, Ekaterina Moguchaya, Ekaterina Kolesova, Anastasia Erina, Kristina Tolkunova, Valeriia Rezapova, Ivan Molotkov, Olesya Melnik, Olga Freylikhman, Nadezhda Paskar, Asiiat Alieva, Elena Baranova, Elena Bazhenova, Olga Beliaeva, Elena Vasilyeva, Sofia Kibkalo, Rostislav Skitchenko, Alina Babenko, Alexey Sergushichev, Alena Dushina, Ekaterina Lopina, Irina Basyrova, Roman Libis, Dmitrii Duplyakov, Natalya Cherepanova, Kati Donner, Paivi Laiho, Anna Kostareva, Alexandra Konradi, Evgeny Shlyakhto, Aarno Palotie, Mark J. Daly, Mykyta Artomov

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)

Abstract The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inhe

Externí odkaz: https://doaj.org/article/5db0f79709df484e81724be4b4650737

Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes

Autor: Anni A. Antikainen, Jani K. Haukka, Anmol Kumar, Anna Syreeni, Stefanie Hägg-Holmberg, Anni Ylinen, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Jukka Putaala, Lena M. Thorn, Valma Harjutsalo, Per-Henrik Groop, Niina Sandholm, the FinnDiane Study Group

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)

Abstract Individuals with type 1 diabetes (T1D) carry a markedly increased risk of stroke, with distinct clinical and neuroimaging characteristics as compared to those without diabetes. Using whole-exome or whole-genome sequencing of 1,051 individual

Externí odkaz: https://doaj.org/article/365346fbb64840359eb3f8e5a30d4bfe

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Autor: Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Cooper, R. S., Chowdhury, R., Dedoussis, G., de Faire, U., Feranil, A. B., Sheu, W. H.- H., Ferrucci, L., Freimer, N. B., Gieger, C., Sengupta, S., Grallert, H., Groop, L. C., Gudnason, V., Tanaka, T., Gyllensten, U., Hamsten, A., Erdmann, J., Harris, T. B., Shuldiner, A. R., Hingorani, A., Hirschhorn, J. N., Gravito, M. L., Wilson, J. F., Hofman, A., Hovingh, G. K., Hsiung, C. A., Humphries, S. E., Teslovich, T. M., Hunt, S. C., Hveem, K., Iribarren, C., Siegbahn, A., Groves, C. J., Nordestgaard, B. G., Njolstad, I., Jarvelin, M.-R., Jula, A., Kahonen, M., Kaprio, J., Kesaniemi, A., Kivimaki, M., Thorleifsson, G., Kooner, J. S., Hallmans, G., Koudstaal, P. J., Kuulasmaa, K., Gustafsson, S., Krauss, R. M., Kuh, D., Nielsen, S. F., Kuusisto, J., Kyvik, K. O., Laakso, M., Lakka, T. A., Hartikainen, A.-L., Lind, L., Van den Herik, E. G., Lindgren, C. M., Kanoni, S., Spector, T. D., Martin, N. G., Marz, W., McCarthy, M. I., McKenzie, C. A., Tybjaerg-Hansen, A., Assimes, T. L., Meneton, P., Metspalu, A., Moilanen, L., Morris, A. D., Ganna, A., Voight, B. F., Stefansson, K., Munroe, P. B., van Pelt, L. J., Waite, L. L., Hayward, C., Strachan, D. P., Tayo, B. O., Tremoli, E., Tuomilehto, J., Uusitupa, M., Chen, J., van Duijn, C. M., Vollenweider, P., Wallentin, L., Liu, D. J., Hernandez, D., Vedantam, S., Wareham, N. J., Jukema, J. W., Whitfield, J. B., Wolffenbuttel, B. H. R., Ordovas, J. M., Buchkovich, M. L., Boerwinkle, E., Palmer, C. N. A., Thorsteinsdottir, U., Hicks, A. A., Chasman, D. I., Rotter, J. I., Wainwright, N., Franks, P. W., Perola, M., Wong, A., Riatti, S., Mora, S., Cupples, L. A., Sandhu, M. S., Rauramaa, R., Rich, S. S., Boehnke, M., Deloukas, P., Mohlke, K. L., Wijmenga, C., Ingelsson, E., Gu, D., Roberts, R., Beckmann, J. S., Wu, Y., Peloso, G. M., Blankenberg, S., Watkins, H., Clarke, R., Collins, R., Kim, B.-J., Wild, S. H., McPherson, R., Nieminen, M. S., Barroso, I., Holm, H., O'Donnell, C., Schreiber, S., Zhang, W., Salomaa, V., Zalloua, P. A., Mannisto, S., Amouyel, P., Willemsen, G., Arveiler, D., Hung, Y.-J., Bragg-Gresham, J. L., Ferrieres, J., Muller-Nurasyid, M., Ferrario, M., Kee, F., Absher, D., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Sattar, N., Wilsgaard, T., Chang, H.-Y., Howson, J. M. M., Pedersen, N. L., Di Angelantonio, E., Demirkan, A., Den Hertog, H. M., Do, R., Donnelly, L. A., Ehret, G. B., Illig, T., Esko, T., Feitosa, M. F., Ferreira, T., Been, L. F., Power, C., Fischer, K., Song, C., Fontanillas, P., Fraser, R. M., Freitag, D. F., Jones, M. R., Gurdasani, D., Heikkila, K., Hypponen, E., Isaacs, A., Jackson, A. U., Pramstaller, P. P., Johansson, A., Bolton, J. L., Young, E. H., Johnson, T., Kaleebu, P., Kaakinen, M., Kettunen, J., Kleber, M. E., Li, X., Luan, J., Lyytikainen, L.-P., Price, J. F., Magnusson, P. K. E., Mangino, M., Mihailov, E., Kastelein, J. J. P., Zhao, J. H., Bonnycastle, L. L., Montasser, M. E., Nolte, I. M., OConnell, J. R., Palmer, C. D., Petersen, A.-K., Schmidt, R. F., Sanna, S., Saxena, R., Bandinelli, S., Service, S. K., Shah, S., Adair, L. S., Shungin, D., Brambilla, P., Sidore, C., De Craen, A., Burnett, M. S., Psaty, B. M., Cesana, G., Khaw, K.-T., Dimitriou, M., Doney, A. S. F., Doring, A., Elliott, P., Epstein, S. E., Eyjolfsson, G. I., Gigante, B., Goodarzi, M. O., Quertermous, T., Kim, E., Stitziel, N. O., Volcik, K. A., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Ford, I., Lehtimaki, T., Lin, S.-Y., Lindstrom, J., Bennett, F., Danesh, J., Loos, R. J. F., Uitterlinden, A. G., Mach, F., McArdle, W. L., Meisinger, C., Mitchell, B. D., Muller, G., Nagaraja, R., Packard, C., Narisu, N., Kathiresan, S., Nieminen, T. V. M., Bochud, M., Nsubuga, R. N., Olafsson, I., Ong, K. K., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Rader, D. J., Reilly, M. P., Majumder, A. a. S., Ridker, P. M., Sanghera, D. K., Boehm, B. O., Rivadeneira, F., Rudan, I., Ruokonen, A., Scharnagl, H., Seeley, J., Asiki, G., Silander, K., Stancakova, A., Stirrups, K., Swift, A. J., Saramies, J., Alam, D. S., Boomsma, D. I., Tiret, L., Strawbridge, R. J., Abecasis, G., Watson, S., Borecki, I. B., Bornstein, S. R., Bovet, P., Burnier, M., Campbell, H., Schwarz, P. E. H., Chakravarti, A., Chambers, J. C., Chen, Y.-D. I., Collins, F. S., Schmidt, E. M., Surakka, I.

Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (S

Externí odkaz: http://hdl.handle.net/10150/623258
http://arizona.openrepository.com/arizona/handle/10150/623258

Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

Autor: Palotie, Aarno, Daly, Mark, Riley-Gills, Bridget, Jacob, Howard, Viollet, Coralie, Petrovski, Slavé, Chen, Chia-Yen, John, Sally, Okafo, George, Plenge, Robert, Maranville, Joseph, McCarthy, Mark, Pendergrass, Rion, Ehm, Margaret G., Auro, Kirsi, Longerich, Simonne, Mälarstig, Anders, Vlahiotis, Anna, Klinger, Katherine, Chatelain, Clement, Gossel, Matthias, Estrada, Karol, Graham, Robert, Waterworth, Dawn, O´Donnell, Chris, Renaud, Nicole, Mäkelä, Tomi P., Kaprio, Jaakko, Ruddock, Minna, Virolainen, Petri, Hakanen, Antti, Kilpi, Terhi, Perola, Markus, Partanen, Jukka, Raivio, Taneli, Tikkanen, Jani, Serpi, Raisa, Kristiansson, Kati, Kosma, Veli-Matti, Laukkanen, Jari, Hautalahti, Marco, Tuovila, Outi, Waring, Jeffrey, Riley-Gillis, Bridget, Rahimov, Fedik, Tachmazidou, Ioanna, Ding, Zhihao, Jung, Marc, Tuoken, Hanati, Biswas, Shameek, Pulford, David, Raghavan, Neha, Huertas-Vazquez, Adriana, Sul, Jae-Hoon, Hu, Xinli, Hedman, Åsa, Obeidat, Ma´en, Chung, Jonathan, Zierer, Jonas, Niemi, Mari, Ripatti, Samuli, Schleutker, Johanna, Arvas, Mikko, Carpén, Olli, Hinttala, Reetta, Kettunen, Johannes, Mannermaa, Arto, Aalto-Setälä, Katriina, Kähönen, Mika, Mäkelä, Johanna, Kälviäinen, Reetta, Julkunen, Valtteri, Soininen, Hilkka, Remes, Anne, Hiltunen, Mikko, Peltola, Jukka, Raivio, Minna, Tienari, Pentti, Rinne, Juha, Kallionpää, Roosa, Partanen, Juulia, Ziemann, Adam, Smaoui, Nizar, Lehtonen, Anne, Eaton, Susan, Runz, Heiko, Lahdenperä, Sanni, Bowers, Natalie, Teng, Edmond, Xu, Fanli, Addis, Laura, Eicher, John, Li, Qingqin S., He, Karen, Khramtsova, Ekaterina, Färkkilä, Martti, Koskela, Jukka, Pikkarainen, Sampsa, Jussila, Airi, Kaukinen, Katri, Blomster, Timo, Kiviniemi, Mikko, Voutilainen, Markku, Lu, Tim, McCarthy, Linda, Hart, Amy, Guan, Meijian, Miller, Jason, Kalpala, Kirsi, Miller, Melissa, Eklund, Kari, Palomäki, Antti, Isomäki, Pia, Pirilä, Laura, Kaipiainen-Seppänen, Oili, Huhtakangas, Johanna, Mars, Nina, Lertratanakul, Apinya, Hochfeld, Marla, Gordillo, Jorge Esparza, Farias, Fabiana, Bing, Nan, Laitinen, Tarja, Pelkonen, Margit, Kauppi, Paula, Kankaanranta, Hannu, Harju, Terttu, Lahesmaa, Riitta, Chen, Hubert, Betts, Joanna, Mishra, Rajashree, Mouded, Majd, Ngo, Debby, Niiranen, Teemu, Vaura, Felix, Salomaa, Veikko, Metsärinne, Kaj, Aittokallio, Jenni, Hernesniemi, Jussi, Gordin, Daniel, Sinisalo, Juha, Taskinen, Marja-Riitta, Tuomi, Tiinamaija, Hiltunen, Timo, Elliott, Amanda, Reeve, Mary Pat, Ruotsalainen, Sanni, Paul, Dirk, Chu, Audrey, Reilly, Dermot, Mendelson, Mike, Parkkinen, Jaakko, Meretoja, Tuomo, Joensuu, Heikki, Mattson, Johanna, Salminen, Eveliina, Auranen, Annika, Karihtala, Peeter, Auvinen, Päivi, Elenius, Klaus, Pitkänen, Esa, Popovic, Relja, Fabre, Margarete, Schutzman, Jennifer, Kulkarni, Diptee, Porello, Alessandro, Loboda, Andrey, Lehtonen, Heli, McDonough, Stefan, Vuoti, Sauli, Kaarniranta, Kai, Turunen, Joni A., Ollila, Terhi, Uusitalo, Hannu, Karjalainen, Juha, Liu, Mengzhen, Loomis, Stephanie, Strauss, Erich, Chen, Hao, Tasanen, Kaisa, Huilaja, Laura, Hannula-Jouppi, Katariina, Salmi, Teea, Peltonen, Sirkku, Koulu, Leena, Choy, David, Wu, Ying, Pussinen, Pirkko, Salminen, Aino, Salo, Tuula, Rice, David, Nieminen, Pekka, Palotie, Ulla, Siponen, Maria, Suominen, Liisa, Mäntylä, Päivi, Gursoy, Ulvi, Anttonen, Vuokko, Sipilä, Kirsi, Laivuori, Hannele, Kurra, Venla, Kotaniemi-Talonen, Laura, Heikinheimo, Oskari, Kalliala, Ilkka, Aaltonen, Lauri, Jokimaa, Varpu, Vääräsmäki, Marja, Uimari, Outi, Morin-Papunen, Laure, Niinimäki, Maarit, Piltonen, Terhi, Kivinen, Katja, Widen, Elisabeth, Tukiainen, Taru, Välimäki, Niko, Laakkonen, Eija, Tyrmi, Jaakko, Silven, Heidi, Sliz, Eeva, Arffman, Riikka, Savukoski, Susanna, Laisk, Triin, Pujol, Natalia, Kumar, Janet, Hovatta, Iiris, Isometsä, Erkki, Ollila, Hanna, Suvisaari, Jaana, Mäkitie, Antti, Bizaki-Vallaskangas, Argyro, Toppila-Salmi, Sanna, Willberg, Tytti, Saarentaus, Elmo, Aarnisalo, Antti, Rahikkala, Elisa, Aittomäki, Kristiina, Åberg, Fredrik, Kurki, Mitja, Havulinna, Aki, Mehtonen, Juha, Palta, Priit, Hassan, Shabbeer, Della Briotta Parolo, Pietro, Zhou, Wei, Maasha, Mutaamba, Lemmelä, Susanna, Rivas, Manuel, Liu, Aoxing, Lehisto, Arto, Ganna, Andrea, Llorens, Vincent, Heyne, Henrike, Rämö, Joel, Rodosthenous, Rodos, Strausz, Satu, Palotie, Tuula, Palin, Kimmo, Garcia-Tabuenca, Javier, Siirtola, Harri, Kiiskinen, Tuomo, Lee, Jiwoo, Tsuo, Kristin, Hyvärinen, Kati, Ritari, Jarmo, Pylkäs, Katri, Karjalainen, Minna, Mantere, Tuomo, Kangasniemi, Eeva, Heikkinen, Sami, Pitkänen, Nina, Lessard, Samuel, Chatelain, Clément, Kallio, Lila, Wahlfors, Tiina, Punkka, Eero, Siltanen, Sanna, Kuopio, Teijo, Jalanko, Anu, Shen, Huei-Yi, Kajanne, Risto, Aavikko, Mervi, Cooper, Helen, Öller, Denise, Leinonen, Rasko, Palin, Henna, Linna, Malla-Maria, Kanai, Masahiro, Zheng, Zhili, Lahtela, L. Elisa, Kaunisto, Mari, Kilpeläinen, Elina, Sipilä, Timo P., Dada, Oluwaseun Alexander, Ghazal, Awaisa, Kytölä, Anastasia, Weldatsadik, Rigbe, Donner, Kati, Loukola, Anu, Laiho, Päivi, Sistonen, Tuuli, Kaiharju, Essi, Laukkanen, Markku, Järvensivu, Elina, Lähteenmäki, Sini, Männikkö, Lotta, Wong, Regis, Toivola, Auli, Brunfeldt, Minna, Mattsson, Hannele, Koskelainen, Sami, Hiekkalinna, Tero, Paajanen, Teemu, Luo, Shuang, Padmanabhuni, Shanmukha Sampath, Niemi, Marianna, Gracia-Tabuenca, Javier, Helminen, Mika, Luukkaala, Tiina, Vähätalo, Iida, Tammerluoto, Jyrki, Smith, Sarah, Southerington, Tom, Lehto, Petri, Ryu, Justine, Rämö, Joel T., Jurgens, Sean J., Sanna-Cherchi, Simone, Bauer, Kenneth A., Haj, Amelia, Choi, Seung Hoan, Ellinor, Patrick T., Bendapudi, Pavan K.

Publikováno v: In Blood 6 June 2024 143(23):2425-2432