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1. Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Author

Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.

Published
2024
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2. Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Author

Kentistou, Katherine A., Kaisinger, Lena R., Stankovic, Stasa, Vaudel, Marc, Mendes de Oliveira, Edson, Messina, Andrea, Walters, Robin G., Liu, Xiaoxi, Busch, Alexander S., Helgason, Hannes, Thompson, Deborah J., Santoni, Federico, Petricek, Konstantin M., Zouaghi, Yassine, Huang-Doran, Isabel, Gudbjartsson, Daniel F., Bratland, Eirik, Lin, Kuang, Gardner, Eugene J., Zhao, Yajie, Jia, Raina Y., Terao, Chikashi, Riggan, Marjorie J., Bolla, Manjeet K., Yazdanpanah, Mojgan, Yazdanpanah, Nahid, Bradfield, Jonathan P., Broer, Linda, Campbell, Archie, Chasman, Daniel I., Cousminer, Diana L., Franceschini, Nora, Franke, Lude H., Girotto, Giorgia, He, Chunyan, Järvelin, Marjo-Riitta, Joshi, Peter K., Kamatani, Yoichiro, Karlsson, Robert, Luan, Jian’an, Lunetta, Kathryn L., Mägi, Reedik, Mangino, Massimo, Medland, Sarah E., Meisinger, Christa, Noordam, Raymond, Nutile, Teresa, Concas, Maria Pina, Polašek, Ozren, Porcu, Eleonora, Ring, Susan M., Sala, Cinzia, Smith, Albert V., Tanaka, Toshiko, van der Most, Peter J., Vitart, Veronique, Wang, Carol A., Willemsen, Gonneke, Zygmunt, Marek, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Auer, Paul L., Barnes, Catriona L. K., Beckmann, Matthias W., Berrington de Gonzalez, Amy, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Buring, Julie E., Canzian, Federico, Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Crisponi, Laura, Czene, Kamila, Daly, Mary B., Demerath, Ellen W., Dennis, Joe, Devilee, Peter, De Vivo, Immaculata, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eriksson, Johan G., Fasching, Peter A., Fernandez-Rhodes, Lindsay, Ferreli, Liana, Fletcher, Olivia, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., González-Neira, Anna, Grallert, Harald, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hakonarson, Hakon, Hart, Roger J., Hickey, Martha, Hooning, Maartje J., Hoppe, Reiner, Hopper, John L., Hottenga, Jouke-Jan, Hu, Frank B., Huebner, Hanna, Hunter, David J., Jernström, Helena, John, Esther M., Karasik, David, Khusnutdinova, Elza K., Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Launer, Lenore J., Lind, Penelope A., Lindblom, Annika, Magnusson, Patrik K. E., Mannermaa, Arto, McCarthy, Mark I., Meitinger, Thomas, Menni, Cristina, Michailidou, Kyriaki, Millwood, Iona Y., Milne, Roger L., Montgomery, Grant W., Nevanlinna, Heli, Nolte, Ilja M., Nyholt, Dale R., Obi, Nadia, O’Brien, Katie M., Offit, Kenneth, Oldehinkel, Albertine J., Ostrowski, Sisse R., Palotie, Aarno, Pedersen, Ole B., Peters, Annette, Pianigiani, Giulia, Plaseska-Karanfilska, Dijana, Pouta, Anneli, Pozarickij, Alfred, Radice, Paolo, Rennert, Gad, Rosendaal, Frits R., Ruggiero, Daniela, Saloustros, Emmanouil, Sandler, Dale P., Schipf, Sabine, Schmidt, Carsten O., Schmidt, Marjanka K., Small, Kerrin, Spedicati, Beatrice, Stampfer, Meir, Stone, Jennifer, Tamimi, Rulla M., Teras, Lauren R., Tikkanen, Emmi, Turman, Constance, Vachon, Celine M., Wang, Qin, Winqvist, Robert, Wolk, Alicja, Zemel, Babette S., Zheng, Wei, van Dijk, Ko W., Alizadeh, Behrooz Z., Bandinelli, Stefania, Boerwinkle, Eric, Boomsma, Dorret I., Ciullo, Marina, Chenevix-Trench, Georgia, Cucca, Francesco, Esko, Tõnu, Gieger, Christian, Grant, Struan F. A., Gudnason, Vilmundur, Hayward, Caroline, Kolčić, Ivana, Kraft, Peter, Lawlor, Deborah A., Martin, Nicholas G., Nøhr, Ellen A., Pedersen, Nancy L., Pennell, Craig E., Ridker, Paul M., Robino, Antonietta, Snieder, Harold, Sovio, Ulla, Spector, Tim D., Stöckl, Doris, Sudlow, Cathie, Timpson, Nic J., Toniolo, Daniela, Uitterlinden, André, Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Widen, Elisabeth, Wilson, James F., Pharoah, Paul D. P., Li, Liming, Easton, Douglas F., Njølstad, Pål R., Sulem, Patrick, Murabito, Joanne M., Murray, Anna, Manousaki, Despoina, Juul, Anders, Erikstrup, Christian, Stefansson, Kari, Horikoshi, Momoko, Chen, Zhengming, Farooqi, I. Sadaf, Pitteloud, Nelly, Johansson, Stefan, Day, Felix R., Perry, John R. B., and Ong, Ken K.

Published
2024
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4. Neonatal outcomes according to different glucose threshold values in gestational diabetes: a register-based study.

Author

Kariniemi, Kaisa, Vääräsmäki, Marja, Männistö, Tuija, Mustaniemi, Sanna, Kajantie, Eero, Eteläinen, Sanna, Keikkala, Elina, Pouta, Anneli, Kaaja, Risto, Eriksson, Johan G, Laivuori, Hannele, and Gissler, Mika

Subjects
GESTATIONAL diabetes, GLUCOSE, GLUCOSE tolerance tests, PERINATAL death, BIRTH weight
Abstract

Background: Mild hyperglycaemia is associated with increased birth weight but association with other neonatal outcomes is controversial. We aimed to study neonatal outcomes in untreated mild hyperglycaemia using different oral glucose tolerance test (OGTT) thresholds. Methods: This register-based study included all (n = 4,939) singleton pregnant women participating a 75 g 2-h OGTT in six delivery hospitals in Finland in 2009. Finnish diagnostic cut-offs for GDM were fasting ≥ 5.3, 1 h ≥ 10.0 or 2-h glucose ≥ 8.6 mmol/L. Women who did not meet these criteria but met the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) criteria (fasting 5.1–5.2 mmol/L and/or 2-h glucose 8.5 mmol/L, n = 509) or the National Institute for Health and Clinical Excellence (NICE) criteria (2-h glucose 7.8–8.5 mmol/L, n = 166) were considered as mild untreated hyperglycaemia. Women who met both the Finnish criteria and the IADPSG or the NICE criteria were considered as treated GDM groups (n = 1292 and n = 612, respectively). Controls were normoglycaemic according to all criteria (fasting glucose < 5.1 mmol/L, 1-h glucose < 10.0 mmol/L and 2-h glucose < 8.5 mmol/L, n = 3031). Untreated mild hyperglycemia groups were compared to controls and treated GDM groups. The primary outcome – a composite of adverse neonatal outcomes, including neonatal hypoglycaemia, hyperbilirubinaemia, birth trauma or perinatal mortality – was analysed using multivariate logistic regression. Results: The risk for the adverse neonatal outcome in untreated mild hyperglycemia was not increased compared to controls (adjusted odds ratio [aOR]: 1.01, 95% confidence interval [CI]: 0.71–1.44, using the IADPSG criteria; aOR: 1.05, 95% CI: 0.60–1.85, using the NICE criteria). The risk was lower compared to the treated IADPSG (aOR 0.38, 95% CI 0.27–0.53) or the treated NICE group (aOR 0.32, 95% CI 0.18–0.57). Discussion: The risk of adverse neonatal outcomes was not increased in mild untreated hyperglycaemia compared to normoglycaemic controls and was lower than in the treated GDM groups. The OGTT cut-offs of 5.3 mmol/L at fasting and 8.6 mmol/L at 2 h seem to sufficiently identify clinically relevant GDM, without excluding neonates with a risk of adverse outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Author

Lagou, Vasiliki, Mägi, Reedik, Hottenga, Jouke- Jan, Grallert, Harald, Perry, John R. B., Bouatia-Naji, Nabila, Marullo, Letizia, Rybin, Denis, Jansen, Rick, Min, Josine L., Dimas, Antigone S., Ulrich, Anna, Zudina, Liudmila, Gådin, Jesper R., Jiang, Longda, Faggian, Alessia, Bonnefond, Amélie, Fadista, Joao, Stathopoulou, Maria G., Isaacs, Aaron, Willems, Sara M., Navarro, Pau, Tanaka, Toshiko, Jackson, Anne U., Montasser, May E., O’Connell, Jeff R., Bielak, Lawrence F., Webster, Rebecca J., Saxena, Richa, Stafford, Jeanette M., Pourcain, Beate St, Timpson, Nicholas J., Salo, Perttu, Shin, So-Youn, Amin, Najaf, Smith, Albert V., Li, Guo, Verweij, Niek, Goel, Anuj, Ford, Ian, Johnson, Paul C. D., Johnson, Toby, Kapur, Karen, Thorleifsson, Gudmar, Strawbridge, Rona J., Rasmussen-Torvik, Laura J., Esko, Tõnu, Mihailov, Evelin, Fall, Tove, Fraser, Ross M., Mahajan, Anubha, Kanoni, Stavroula, Giedraitis, Vilmantas, Kleber, Marcus E., Silbernagel, Günther, Meyer, Julia, Müller-Nurasyid, Martina, Ganna, Andrea, Sarin, Antti-Pekka, Yengo, Loic, Shungin, Dmitry, Luan, Jian’an, Horikoshi, Momoko, An, Ping, Sanna, Serena, Boettcher, Yvonne, Rayner, N. William, Nolte, Ilja M., Zemunik, Tatijana, Iperen, Erik van, Kovacs, Peter, Hastie, Nicholas D., Wild, Sarah H., McLachlan, Stela, Campbell, Susan, Polasek, Ozren, Carlson, Olga, Egan, Josephine, Kiess, Wieland, Willemsen, Gonneke, Kuusisto, Johanna, Laakso, Markku, Dimitriou, Maria, Hicks, Andrew A., Rauramaa, Rainer, Bandinelli, Stefania, Thorand, Barbara, Liu, Yongmei, Miljkovic, Iva, Lind, Lars, Doney, Alex, Perola, Markus, Hingorani, Aroon, Kivimaki, Mika, Kumari, Meena, Bennett, Amanda J., Groves, Christopher J., Herder, Christian, Koistinen, Heikki A., Kinnunen, Leena, Faire, Ulf de, Bakker, Stephan J. L., Uusitupa, Matti, Palmer, Colin N. A., Jukema, J. Wouter, Sattar, Naveed, Pouta, Anneli, Snieder, Harold, Boerwinkle, Eric, Pankow, James S., Magnusson, Patrik K., Krus, Ulrika, Scapoli, Chiara, de Geus, Eco J. C. N., Blüher, Matthias, Wolffenbuttel, Bruce H. R., Province, Michael A., Abecasis, Goncalo R., Meigs, James B., Hovingh, G. Kees, Lindström, Jaana, Wilson, James F., Wright, Alan F., Dedoussis, George V., Bornstein, Stefan R., Schwarz, Peter E. H., Tönjes, Anke, Winkelmann, Bernhard R., Boehm, Bernhard O., März, Winfried, Metspalu, Andres, Price, Jackie F., Deloukas, Panos, Körner, Antje, Lakka, Timo A., Keinanen-Kiukaanniemi, Sirkka M., Saaristo, Timo E., Bergman, Richard N., Tuomilehto, Jaakko, Wareham, Nicholas J., Langenberg, Claudia, Männistö, Satu, Franks, Paul W., Hayward, Caroline, Vitart, Veronique, Kaprio, Jaakko, Visvikis-Siest, Sophie, Balkau, Beverley, Altshuler, David, Rudan, Igor, Stumvoll, Michael, Campbell, Harry, van Duijn, Cornelia M., Gieger, Christian, Illig, Thomas, Ferrucci, Luigi, Pedersen, Nancy L., Pramstaller, Peter P., Boehnke, Michael, Frayling, Timothy M., Shuldiner, Alan R., Peyser, Patricia A., Kardia, Sharon L. R., Palmer, Lyle J., Penninx, Brenda W., Meneton, Pierre, Harris, Tamara B., Navis, Gerjan, Harst, Pim van der, Smith, George Davey, Forouhi, Nita G., Loos, Ruth J. F., Salomaa, Veikko, Soranzo, Nicole, Boomsma, Dorret I., Groop, Leif, Tuomi, Tiinamaija, Hofman, Albert, Munroe, Patricia B., Gudnason, Vilmundur, Siscovick, David S., Watkins, Hugh, Lecoeur, Cecile, Vollenweider, Peter, Franco-Cereceda, Anders, Eriksson, Per, Jarvelin, Marjo-Riitta, Stefansson, Kari, Hamsten, Anders, Nicholson, George, Karpe, Fredrik, Dermitzakis, Emmanouil T., Lindgren, Cecilia M., McCarthy, Mark I., Froguel, Philippe, Kaakinen, Marika A., Lyssenko, Valeriya, Watanabe, Richard M., Ingelsson, Erik, Florez, Jose C., Dupuis, Josée, Barroso, Inês, Morris, Andrew P., and Prokopenko, Inga

Published
2021
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6. 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

7. Genome-wide association analysis identifies six new loci associated with forced vital capacity

Author

Loth, Daan W, Artigas, María Soler, Gharib, Sina A, Wain, Louise V, Franceschini, Nora, Koch, Beate, Pottinger, Tess D, Smith, Albert Vernon, Duan, Qing, Oldmeadow, Chris, Lee, Mi Kyeong, Strachan, David P, James, Alan L, Huffman, Jennifer E, Vitart, Veronique, Ramasamy, Adaikalavan, Wareham, Nicholas J, Kaprio, Jaakko, Wang, Xin-Qun, Trochet, Holly, Kähönen, Mika, Flexeder, Claudia, Albrecht, Eva, Lopez, Lorna M, de Jong, Kim, Thyagarajan, Bharat, Alves, Alexessander Couto, Enroth, Stefan, Omenaas, Ernst, Joshi, Peter K, Fall, Tove, Viñuela, Ana, Launer, Lenore J, Loehr, Laura R, Fornage, Myriam, Li, Guo, Wilk, Jemma B, Tang, Wenbo, Manichaikul, Ani, Lahousse, Lies, Harris, Tamara B, North, Kari E, Rudnicka, Alicja R, Hui, Jennie, Gu, Xiangjun, Lumley, Thomas, Wright, Alan F, Hastie, Nicholas D, Campbell, Susan, Kumar, Rajesh, Pin, Isabelle, Scott, Robert A, Pietiläinen, Kirsi H, Surakka, Ida, Liu, Yongmei, Holliday, Elizabeth G, Schulz, Holger, Heinrich, Joachim, Davies, Gail, Vonk, Judith M, Wojczynski, Mary, Pouta, Anneli, Johansson, Åsa, Wild, Sarah H, Ingelsson, Erik, Rivadeneira, Fernando, Völzke, Henry, Hysi, Pirro G, Eiriksdottir, Gudny, Morrison, Alanna C, Rotter, Jerome I, Gao, Wei, Postma, Dirkje S, White, Wendy B, Rich, Stephen S, Hofman, Albert, Aspelund, Thor, Couper, David, Smith, Lewis J, Psaty, Bruce M, Lohman, Kurt, Burchard, Esteban G, Uitterlinden, André G, Garcia, Melissa, Joubert, Bonnie R, McArdle, Wendy L, Musk, A Bill, Hansel, Nadia, Heckbert, Susan R, Zgaga, Lina, van Meurs, Joyce BJ, Navarro, Pau, Rudan, Igor, Oh, Yeon-Mok, Redline, Susan, Jarvis, Deborah L, Zhao, Jing Hua, Rantanen, Taina, O'Connor, George T, and Ripatti, Samuli

Subjects
Biological Sciences, Genetics, Human Genome, Rare Diseases, Lung, Cancer, Lung Cancer, Respiratory, Cohort Studies, Databases, Genetic, Follow-Up Studies, Forced Expiratory Volume, Genetic Loci, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Lung Diseases, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Prognosis, Quantitative Trait Loci, Respiratory Function Tests, Spirometry, Vital Capacity, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.

Published
2014

8. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Author

Service, Susan K, Teslovich, Tanya M, Fuchsberger, Christian, Ramensky, Vasily, Yajnik, Pranav, Koboldt, Daniel C, Larson, David E, Zhang, Qunyuan, Lin, Ling, Welch, Ryan, Ding, Li, McLellan, Michael D, O'Laughlin, Michele, Fronick, Catrina, Fulton, Lucinda L, Magrini, Vincent, Swift, Amy, Elliott, Paul, Jarvelin, Marjo-Riitta, Kaakinen, Marika, McCarthy, Mark I, Peltonen, Leena, Pouta, Anneli, Bonnycastle, Lori L, Collins, Francis S, Narisu, Narisu, Stringham, Heather M, Tuomilehto, Jaakko, Ripatti, Samuli, Fulton, Robert S, Sabatti, Chiara, Wilson, Richard K, Boehnke, Michael, and Freimer, Nelson B

Subjects
Humans, Cholesterol, Genotype, Linkage Disequilibrium, Phenotype, Quantitative Trait Loci, Population Groups, European Continental Ancestry Group, Finland, Cholesterol, HDL, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, HDL, Genetics, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic traits, we conducted re-sequencing studies in >6,000 members of a Finnish population cohort (The Northern Finland Birth Cohort of 1966 [NFBC]) and a type 2 diabetes case-control sample (The Finland-United States Investigation of NIDDM Genetics [FUSION] study). By sequencing the coding sequence and 5' and 3' untranslated regions of 78 genes at 17 GWAS loci associated with one or more of six metabolic traits (serum levels of fasting HDL-C, LDL-C, total cholesterol, triglycerides, plasma glucose, and insulin), and conducting both single-variant and gene-level association tests, we obtained a more complete understanding of phenotype-genotype associations at eight of these loci. At all eight of these loci, the identification of new associations provides significant evidence for multiple genetic signals to one or more phenotypes, and at two loci, in the genes ABCA1 and CETP, we found significant gene-level evidence of association to non-synonymous variants with MAF

Published
2014

9. A genome-wide association meta-analysis identifies new childhood obesity loci

Author

Bradfield, Jonathan P, Taal, H Rob, Timpson, Nicholas J, Scherag, Andre, Lecoeur, Cecile, Warrington, Nicole M, Hypponen, Elina, Holst, Claus, Valcarcel, Beatriz, Thiering, Elisabeth, Salem, Rany M, Schumacher, Fredrick R, Cousminer, Diana L, Sleiman, Patrick MA, Zhao, Jianhua, Berkowitz, Robert I, Vimaleswaran, Karani S, Jarick, Ivonne, Pennell, Craig E, Evans, David M, St Pourcain, Beate, Berry, Diane J, Mook-Kanamori, Dennis O, Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, Andre G, van Duijn, Cornelia M, van der Valk, Ralf JP, de Jongste, Johan C, Postma, Dirkje S, Boomsma, Dorret I, Gauderman, W James, Hassanein, Mohamed T, Lindgren, Cecilia M, Magi, Reedik, Boreham, Colin AG, Neville, Charlotte E, Moreno, Luis A, Elliott, Paul, Pouta, Anneli, Hartikainen, Anna-Liisa, Li, Mingyao, Raitakari, Olli, Lehtimaki, Terho, Eriksson, Johan G, Palotie, Aarno, Dallongeville, Jean, Das, Shikta, Deloukas, Panos, McMahon, George, Ring, Susan M, Kemp, John P, Buxton, Jessica L, Blakemore, Alexandra IF, Bustamante, Mariona, Guxens, Monica, Hirschhorn, Joel N, Gillman, Matthew W, Kreiner-Moller, Eskil, Bisgaard, Hans, Gilliland, Frank D, Heinrich, Joachim, Wheeler, Eleanor, Barroso, Ines, O'Rahilly, Stephen, Meirhaeghe, Aline, Sorensen, Thorkild IA, Power, Chris, Palmer, Lyle J, Hinney, Anke, Widen, Elisabeth, Farooqi, I Sadaf, McCarthy, Mark I, Froguel, Philippe, Meyre, David, Hebebrand, Johannes, Jarvelin, Marjo-Riitta, Jaddoe, Vincent WV, Smith, George Davey, Hakonarson, Hakon, and Grant, Struan FA

Subjects
Biological Sciences, Genetics, Pediatric, Nutrition, Obesity, Human Genome, Metabolic and endocrine, Oral and gastrointestinal, Stroke, Cancer, Cardiovascular, Adolescent, Adult, Body Mass Index, Case-Control Studies, Genetic Loci, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Young Adult, Early Growth Genetics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of 14 studies consisting of 5,530 cases (≥95th percentile of body mass index (BMI)) and 8,318 controls (

Published
2012

10. A Genome-Wide Association Meta-Analysis of Circulating Sex Hormone–Binding Globulin Reveals Multiple Loci Implicated in Sex Steroid Hormone Regulation

Author

Coviello, Andrea D, Haring, Robin, Wellons, Melissa, Vaidya, Dhananjay, Lehtimäki, Terho, Keildson, Sarah, Lunetta, Kathryn L, He, Chunyan, Fornage, Myriam, Lagou, Vasiliki, Mangino, Massimo, Onland-Moret, N Charlotte, Chen, Brian, Eriksson, Joel, Garcia, Melissa, Liu, Yong Mei, Koster, Annemarie, Lohman, Kurt, Lyytikäinen, Leo-Pekka, Petersen, Ann-Kristin, Prescott, Jennifer, Stolk, Lisette, Vandenput, Liesbeth, Wood, Andrew R, Zhuang, Wei Vivian, Ruokonen, Aimo, Hartikainen, Anna-Liisa, Pouta, Anneli, Bandinelli, Stefania, Biffar, Reiner, Brabant, Georg, Cox, David G, Chen, Yuhui, Cummings, Steven, Ferrucci, Luigi, Gunter, Marc J, Hankinson, Susan E, Martikainen, Hannu, Hofman, Albert, Homuth, Georg, Illig, Thomas, Jansson, John-Olov, Johnson, Andrew D, Karasik, David, Karlsson, Magnus, Kettunen, Johannes, Kiel, Douglas P, Kraft, Peter, Liu, Jingmin, Ljunggren, Östen, Lorentzon, Mattias, Maggio, Marcello, Markus, Marcello RP, Mellström, Dan, Miljkovic, Iva, Mirel, Daniel, Nelson, Sarah, Papunen, Laure Morin, Peeters, Petra HM, Prokopenko, Inga, Raffel, Leslie, Reincke, Martin, Reiner, Alex P, Rexrode, Kathryn, Rivadeneira, Fernando, Schwartz, Stephen M, Siscovick, David, Soranzo, Nicole, Stöckl, Doris, Tworoger, Shelley, Uitterlinden, André G, van Gils, Carla H, Vasan, Ramachandran S, Wichmann, H-Erich, Zhai, Guangju, Bhasin, Shalender, Bidlingmaier, Martin, Chanock, Stephen J, De Vivo, Immaculata, Harris, Tamara B, Hunter, David J, Kähönen, Mika, Liu, Simin, Ouyang, Pamela, Spector, Tim D, van der Schouw, Yvonne T, Viikari, Jorma, Wallaschofski, Henri, McCarthy, Mark I, Frayling, Timothy M, Murray, Anna, Franks, Steve, Järvelin, Marjo-Riitta, de Jong, Frank H, Raitakari, Olli, Teumer, Alexander, Ohlsson, Claes, Murabito, Joanne M, and Perry, John RB

Subjects
Biological Sciences, Genetics, Breast Cancer, Aging, Estrogen, Cancer Genomics, Urologic Diseases, Cancer, Prostate Cancer, Human Genome, Women's Health, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Alleles, Female, Genetic Heterogeneity, Genome-Wide Association Study, Gonadal Steroid Hormones, Humans, Male, Metabolic Networks and Pathways, Polymorphism, Single Nucleotide, Sex Characteristics, Sex Hormone-Binding Globulin, Developmental Biology
Abstract

Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8 × 10(-106)), PRMT6 (rs17496332, 1p13.3, p = 1.4 × 10(-11)), GCKR (rs780093, 2p23.3, p = 2.2 × 10(-16)), ZBTB10 (rs440837, 8q21.13, p = 3.4 × 10(-09)), JMJD1C (rs7910927, 10q21.3, p = 6.1 × 10(-35)), SLCO1B1 (rs4149056, 12p12.1, p = 1.9 × 10(-08)), NR2F2 (rs8023580, 15q26.2, p = 8.3 × 10(-12)), ZNF652 (rs2411984, 17q21.32, p = 3.5 × 10(-14)), TDGF3 (rs1573036, Xq22.3, p = 4.1 × 10(-14)), LHCGR (rs10454142, 2p16.3, p = 1.3 × 10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p = 2.7 × 10(-08)), and UGT2B15 (rs293428, 4q13.2, p = 5.5 × 10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p = 2.5 × 10(-08), women p = 0.66, heterogeneity p = 0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained ~15.6% and ~8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.

Published
2012

11. Genome-wide association study identifies eight loci associated with blood pressure

Author

Newton-Cheh, Christopher, Johnson, Toby, Gateva, Vesela, Tobin, Martin D, Bochud, Murielle, Coin, Lachlan, Najjar, Samer S, Zhao, Jing Hua, Heath, Simon C, Eyheramendy, Susana, Papadakis, Konstantinos, Voight, Benjamin F, Scott, Laura J, Zhang, Feng, Farrall, Martin, Tanaka, Toshiko, Wallace, Chris, Chambers, John C, Khaw, Kay-Tee, Nilsson, Peter, van der Harst, Pim, Polidoro, Silvia, Grobbee, Diederick E, Onland-Moret, N Charlotte, Bots, Michiel L, Wain, Louise V, Elliott, Katherine S, Teumer, Alexander, Luan, Jian'an, Lucas, Gavin, Kuusisto, Johanna, Burton, Paul R, Hadley, David, McArdle, Wendy L, Brown, Morris, Dominiczak, Anna, Newhouse, Stephen J, Samani, Nilesh J, Webster, John, Zeggini, Eleftheria, Beckmann, Jacques S, Bergmann, Sven, Lim, Noha, Song, Kijoung, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M, Yuan, Xin, Groop, Leif, Orho-Melander, Marju, Allione, Alessandra, Di Gregorio, Alessandra, Guarrera, Simonetta, Panico, Salvatore, Ricceri, Fulvio, Romanazzi, Valeria, Sacerdote, Carlotta, Vineis, Paolo, Barroso, Inês, Sandhu, Manjinder S, Luben, Robert N, Crawford, Gabriel J, Jousilahti, Pekka, Perola, Markus, Boehnke, Michael, Bonnycastle, Lori L, Collins, Francis S, Jackson, Anne U, Mohlke, Karen L, Stringham, Heather M, Valle, Timo T, Willer, Cristen J, Bergman, Richard N, Morken, Mario A, Döring, Angela, Gieger, Christian, Illig, Thomas, Meitinger, Thomas, Org, Elin, Pfeufer, Arne, Wichmann, H Erich, Kathiresan, Sekar, Marrugat, Jaume, O'Donnell, Christopher J, Schwartz, Stephen M, Siscovick, David S, Subirana, Isaac, Freimer, Nelson B, Hartikainen, Anna-Liisa, McCarthy, Mark I, O'Reilly, Paul F, Peltonen, Leena, Pouta, Anneli, de Jong, Paul E, Snieder, Harold, van Gilst, Wiek H, Clarke, Robert, Goel, Anuj, Hamsten, Anders, and Peden, John F

Subjects
Biological Sciences, Genetics, Hypertension, Cardiovascular, Prevention, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adaptor Proteins, Signal Transducing, Blood Pressure, Cardiovascular Diseases, Chromosome Mapping, Cytochrome P-450 CYP1A2, DNA-Binding Proteins, Diastole, Europe, Fibroblast Growth Factor 5, Genetic Variation, Genome-Wide Association Study, Humans, India, Intracellular Signaling Peptides and Proteins, Methylenetetrahydrofolate Reductase (NADPH2), Open Reading Frames, Phospholipase C delta, Polymorphism, Single Nucleotide, Proteins, Steroid 17-alpha-Hydroxylase, Systole, White People, Wellcome Trust Case Control Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N ≤ 71,225 European ancestry, N ≤ 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N = 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10(-24)), CYP1A2 (P = 1 × 10(-23)), FGF5 (P = 1 × 10(-21)), SH2B3 (P = 3 × 10(-18)), MTHFR (P = 2 × 10(-13)), c10orf107 (P = 1 × 10(-9)), ZNF652 (P = 5 × 10(-9)) and PLCD3 (P = 1 × 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.

Published
2009

12. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.

Author

Sovio, Ulla, Bennett, Amanda J, Millwood, Iona Y, Molitor, John, O'Reilly, Paul F, Timpson, Nicholas J, Kaakinen, Marika, Laitinen, Jaana, Haukka, Jari, Pillas, Demetris, Tzoulaki, Ioanna, Molitor, Jassy, Hoggart, Clive, Coin, Lachlan JM, Whittaker, John, Pouta, Anneli, Hartikainen, Anna-Liisa, Freimer, Nelson B, Widen, Elisabeth, Peltonen, Leena, Elliott, Paul, McCarthy, Mark I, and Jarvelin, Marjo-Riitta

Subjects
Humans, Body Height, Prospective Studies, Child Development, Genotype, Polymorphism, Single Nucleotide, Adolescent, Adult, Child, Infant, Newborn, European Continental Ancestry Group, Finland, Female, Male, Genome-Wide Association Study, Infant, Newborn, Polymorphism, Single Nucleotide, Genetics, Developmental Biology
Abstract

Recent genome-wide association (GWA) studies have identified dozens of common variants associated with adult height. However, it is unknown how these variants influence height growth during childhood. We derived peak height velocity in infancy (PHV1) and puberty (PHV2) and timing of pubertal height growth spurt from parametric growth curves fitted to longitudinal height growth data to test their association with known height variants. The study consisted of N = 3,538 singletons from the prospective Northern Finland Birth Cohort 1966 with genotype data and frequent height measurements (on average 20 measurements per person) from 0-20 years. Twenty-six of the 48 variants tested associated with adult height (p

Published
2009

13. Identification of complement factor H variants that predispose to pre‐eclampsia: A genetic and functional study.

Author

Lokki, A. Inkeri, Ren, Zhen, Triebwasser, Michael, Daly, Emma, Perola, Markus, Auro, Kirsi, Burwick, Richard, Salmon, Jane E., Daly, Mark, Laivuori, Hannele, Atkinson, John P., Java, Anuja, Meri, Seppo, Heinonen, Seppo, Kajantie, Eero, Kere, Juha, Kivinen, Katja, and Pouta, Anneli

Subjects
COMPLEMENT factor H, ECLAMPSIA, PREECLAMPSIA, COMPLEMENT activation, GENETIC variation, MISSENSE mutation
Abstract

Objective: The objective of the study was to investigate the role of genetic variants in complement proteins in pre‐eclampsia. Design: In a case–control study involving 609 cases and 2092 controls, five rare variants in complement factor H (CFH) were identified in women with severe and complicated pre‐eclampsia. No variants were identified in controls. Setting: Pre‐eclampsia is a leading cause of maternal and fetal morbidity and mortality. Immune maladaptation, in particular, complement activation that disrupts maternal‐fetal tolerance leading to placental dysfunction and endothelial injury, has been proposed as a pathogenetic mechanism, but this remains unproven. Population: We genotyped 609 pre‐eclampsia cases and 2092 controls from FINNPEC and the national FINRISK cohorts. Methods: Complement‐based functional and structural assays were conducted in vitro to define the significance of these five missense variants and each compared with wild type. Main outcome measures: Secretion, expression and ability to regulate complement activation were assessed for factor H proteins harbouring the mutations. Results: We identified five heterozygous rare variants in complement factor H (L3V, R127H, R166Q, C1077S and N1176K) in seven women with severe pre‐eclampsia. These variants were not identified in controls. Variants C1077S and N1176K were novel. Antigenic, functional and structural analyses established that four (R127H, R166Q, C1077S and N1176K) were deleterious. Variants R127H and C1077S were synthesised, but not secreted. Variants R166Q and N1176K were secreted normally but showed reduced binding to C3b and consequently defective complement regulatory activity. No defect was identified for L3V. Conclusions: These results suggest that complement dysregulation due to mutations in complement factor H is among the pathophysiological mechanisms underlying severe pre‐eclampsia. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Serum ceramides in early pregnancy as predictors of gestational diabetes.

Author

Mustaniemi, Sanna, Keikkala, Elina, Kajantie, Eero, Nurhonen, Markku, Jylhä, Antti, Morin-Papunen, Laure, Öhman, Hanna, Männistö, Tuija, Laivuori, Hannele, Eriksson, Johan G., Laaksonen, Reijo, Vääräsmäki, Marja, The FinnGeDi Study Group, Kaaja, Risto, Gissler, Mika, and Pouta, Anneli

Subjects
GESTATIONAL diabetes, CERAMIDES, TYPE 2 diabetes, METABOLIC disorders, LOGISTIC regression analysis, PREGNANCY
Abstract

Ceramides contribute to the development of type 2 diabetes but it is uncertain whether they predict gestational diabetes (GDM). In this multicentre case–control study including 1040 women with GDM and 958 non-diabetic controls, early pregnancy (mean 10.7 gestational weeks) concentrations of four ceramides—Cer(d18:1/16:0), Cer(d18:1/18:0), Cer(d18:1/24:0) and Cer(d18:1/24:1)—were determined by a validated mass-spectrometric method from biobanked serum samples. Traditional lipids including total cholesterol, LDL, HDL and triglycerides were measured. Logistic and linear regression and the LASSO logistic regression were used to analyse lipids and clinical risk factors in the prediction of GDM. The concentrations of four targeted ceramides and total cholesterol, LDL and triglycerides were higher and HDL was lower among women with subsequent GDM than among controls. After adjustments, Cer(d18:1/24:0), triglycerides and LDL were independent predictors of GDM, women in their highest quartile had 1.44-fold (95% CI 1.07–1.95), 2.17-fold (95% CI 1.57–3.00) and 1.63-fold (95% CI 1.19–2.24) odds for GDM when compared to their lowest quartiles, respectively. In the LASSO regression modelling ceramides did not appear to markedly improve the predictive performance for GDM alongside with clinical risk factors and triglycerides. However, their adverse alterations highlight the extent of metabolic disturbances involved in GDM. [ABSTRACT FROM AUTHOR]

Published
2023
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16. 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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18. Increased Risk of Preeclampsia in Women With a Genetic Predisposition to Elevated Blood Pressure

Author

Kivioja, Anna, primary, Toivonen, Elli, additional, Tyrmi, Jaakko, additional, Ruotsalainen, Sanni, additional, Ripatti, Samuli, additional, Huhtala, Heini, additional, Jääskeläinen, Tiina, additional, Heinonen, Seppo, additional, Kajantie, Eero, additional, Kere, Juha, additional, Kivinen, Katja, additional, Pouta, Anneli, additional, Saarela, Tanja, additional, and Laivuori, Hannele, additional

Published
2022
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19. Increased Oral Care Needs and Third Molar Symptoms in Women with Gestational Diabetes Mellitus: A Finnish Gestational Diabetes Case–Control Study

Author

Pukkila, Jenni, primary, Mustaniemi, Sanna, additional, Lingaiah, Shilpa, additional, Lappalainen, Olli-Pekka, additional, Kajantie, Eero, additional, Pouta, Anneli, additional, Kaaja, Risto, additional, Eriksson, Johan G., additional, Laivuori, Hannele, additional, Gissler, Mika, additional, Vääräsmäki, Marja, additional, and Keikkala, Elina, additional

Published
2022
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20. Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

Author

Vimaleswaran, Karani S, Cavadino, Alana, Berry, Diane J, Jorde, Rolf, Dieffenbach, Aida Karina, Lu, Chen, Alves, Alexessander Couto, Heerspink, Hiddo J Lambers, Tikkanen, Emmi, Eriksson, Joel, Wong, Andrew, Mangino, Massimo, Jablonski, Kathleen A, Nolte, Ilja M, Houston, Denise K, Ahluwalia, Tarunveer Singh, van der Most, Peter J, Pasko, Dorota, Zgaga, Lina, Thiering, Elisabeth, Vitart, Veronique, Fraser, Ross M, Huffman, Jennifer E, de Boer, Rudolf A, Schöttker, Ben, Saum, Kai-Uwe, McCarthy, Mark I, Dupuis, Josée, Herzig, Karl-Heinz, Sebert, Sylvain, Pouta, Anneli, Laitinen, Jaana, Kleber, Marcus E, Navis, Gerjan, Lorentzon, Mattias, Jameson, Karen, Arden, Nigel, Cooper, Jackie A, Acharya, Jayshree, Hardy, Rebecca, Raitakari, Olli, Ripatti, Samuli, Billings, Liana K, Lahti, Jari, Osmond, Clive, Penninx, Brenda W, Rejnmark, Lars, Lohman, Kurt K, Paternoster, Lavinia, Stolk, Ronald P, Hernandez, Dena G, Byberg, Liisa, Hagström, Emil, Melhus, Håkan, Ingelsson, Erik, Mellström, Dan, Ljunggren, Östen, Tzoulaki, Ioanna, McLachlan, Stela, Theodoratou, Evropi, Tiesler, Carla M T, Jula, Antti, Navarro, Pau, Wright, Alan F, Polasek, Ozren, Wilson, James F, Rudan, Igor, Salomaa, Veikko, Heinrich, Joachim, Campbell, Harry, Price, Jacqueline F, Karlsson, Magnus, Lind, Lars, Michaëlsson, Karl, Bandinelli, Stefania, Frayling, Timothy M, Hartman, Catharina A, Sørensen, Thorkild I A, Kritchevsky, Stephen B, Langdahl, Bente Lomholt, Eriksson, Johan G, Florez, Jose C, Spector, Tim D, Lehtimäki, Terho, Kuh, Diana, Humphries, Steve E, Cooper, Cyrus, Ohlsson, Claes, März, Winfried, de Borst, Martin H, Kumari, Meena, Kivimaki, Mika, Wang, Thomas J, Power, Chris, Brenner, Hermann, Grimnes, Guri, van der Harst, Pim, Snieder, Harold, Hingorani, Aroon D, Pilz, Stefan, Whittaker, John C, Järvelin, Marjo-Riitta, and Hyppönen, Elina

Published
2014
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22. Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy

Author

Tyrmi, Jaakko S., Kaartokallio, Tea, Lokki, A. Inkeri, Jääskeläinen, Tiina, Kortelainen, Eija, Ruotsalainen, Sanni, Karjalainen, Juha, Ripatti, Samuli, Kivioja, Anna, Laisk, Triin, Kettunen, Johannes, Pouta, Anneli, Kivinen, Katja, Kajantie, Eero, Heinonen, Seppo, Kere, Juha, and Laivuori, Hannele

Abstract

IMPORTANCE: A genetic contribution to preeclampsia susceptibility has been established but is still incompletely understood. OBJECTIVE: To disentangle the underlying genetic architecture of preeclampsia and preeclampsia or other maternal hypertension during pregnancy with a genome-wide association study (GWAS) of hypertensive disorders of pregnancy. DESIGN, SETTING, AND PARTICIPANTS: This GWAS included meta-analyses in maternal preeclampsia and a combination phenotype encompassing maternal preeclampsia and preeclampsia or other maternal hypertensive disorders. Two overlapping phenotype groups were selected for examination, namely, preeclampsia and preeclampsia or other maternal hypertension during pregnancy. Data from the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC, 1990-2011), Finnish FinnGen project (1964-2019), Estonian Biobank (1997-2019), and the previously published InterPregGen consortium GWAS were combined. Individuals with preeclampsia or other maternal hypertension during pregnancy and control individuals were selected from the cohorts based on relevant International Classification of Diseases codes. Data were analyzed from July 2020 to February 2023. EXPOSURES: The association of a genome-wide set of genetic variants and clinical risk factors was analyzed for the 2 phenotypes. RESULTS: A total of 16 743 women with prior preeclampsia and 15 200 with preeclampsia or other maternal hypertension during pregnancy were obtained from FINNPEC, FinnGen, Estonian Biobank, and the InterPregGen consortium study (respective mean [SD] ages at diagnosis: 30.3 [5.5], 28.7 [5.6], 29.7 [7.0], and 28 [not available] years). The analysis found 19 genome-wide significant associations, 13 of which were novel. Seven of the novel loci harbor genes previously associated with blood pressure traits (NPPA, NPR3, PLCE1, TNS2, FURIN, RGL3, and PREX1). In line with this, the 2 study phenotypes showed genetic correlation with blood pressure traits. In addition, novel risk loci were identified in the proximity of genes involved in the development of placenta (PGR, TRPC6, ACTN4, and PZP), remodeling of uterine spiral arteries (NPPA, NPPB, NPR3, and ACTN4), kidney function (PLCE1, TNS2, ACTN4, and TRPC6), and maintenance of proteostasis in pregnancy serum (PZP). CONCLUSIONS AND RELEVANCE: The findings indicate that genes related to blood pressure traits are associated with preeclampsia, but many of these genes have additional pleiotropic effects on cardiometabolic, endothelial, and placental function. Furthermore, several of the associated loci have no known connection with cardiovascular disease but instead harbor genes contributing to maintenance of successful pregnancy, with dysfunctions leading to preeclampsialike symptoms.

Published
2023
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25. Circulating Levels of Anti-C1q and Anti-Factor H Autoantibodies and Their Targets in Normal Pregnancy and Preeclampsia

Author

Dijkstra, Douwe Jan, Lokki, A Inkeri, Gierman, Lobke, Borggreven, Nicole Veronique, van der Keur, Carin, Eikmans, Michael, Gelderman, Kyra Andrea, Laivuori, Hannele, Heinonen, Seppo, Kajantie, Eero Olavi, Kere, Juha, Kivinen, Katja, Pouta, Anneli, Iversen, Ann-Charlotte, van der Hoorn, Marie-Louise P, Trouw, Leendert Adrianus, Department of Medical and Clinical Genetics, Department of Bacteriology and Immunology, University of Helsinki, Helsinki University Hospital Area, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Tampere University, Department of Gynaecology and Obstetrics, and Clinical Medicine

Subjects
autoantibodies, Complement C1q, Placenta, Immunology, PROTEIN, WOMEN, Vascular Remodeling, factor H, ACTIVATION, preeclampsia, Pre-Eclampsia, 3123 Gynaecology and paediatrics, Immunology and Allergy, APOPTOTIC CELLS, Humans, Female, complement, 3111 Biomedicine, pregnancy, COMPLEMENT-SYSTEM, EARLY GESTATION, C1q
Abstract

Preeclampsia (PE) generally manifests in the second half of pregnancy with hypertension and proteinuria. The understanding of the origin and mechanism behind PE is incomplete, although there is clearly an immune component to this disorder. The placenta constitutes a complicated immune interface between fetal and maternal cells, where regulation and tolerance are key. Stress factors from placental dysfunction in PE are released to the maternal circulation evoking the maternal response. Several complement factors play a role within this intricate landscape, including C1q in vascular remodeling and Factor H (FH) as the key regulator of alternative pathway complement activation. We hypothesize that decreased levels of C1q or FH, or disturbance of their function by autoantibodies, may be associated with PE. Autoantibodies against C1q and FH and the concentrations of C1q and FH were measured by ELISA in maternal sera from women with preeclamptic and normal pregnancies. Samples originated from cohorts collected in the Netherlands (n=63 PE; n=174 control pregnancies, n=51 nonpregnant), Finland (n=181 PE; n=63 control pregnancies) and Norway (n=59 PE; n=27 control pregnancies). Serum C1q and FH concentrations were higher in control pregnancy than in nonpregnant women. No significant differences were observed for serum C1q between preeclamptic and control pregnancy in any of the three cohorts. Serum levels of FH were lower in preeclamptic pregnancies compared to control pregnancies in two of the cohorts, this effect was driven by the early onset PE cases. Neither anti-C1q autoantibodies nor anti-FH autoantibodies levels differed between women with PE and normal pregnancies. In conclusion, levels of anti-C1q and anti-FH autoantibodies are not increased in PE. C1q and FH are increased in pregnancy, but importantly, a decrease in FH concentration is associated with PE. publishedVersion

Published
2022

26. MAINTENANCE OF GENETIC VARIATION IN HUMAN PERSONALITY: TESTING EVOLUTIONARY MODELS BY ESTIMATING HERITABILITY DUE TO COMMON CAUSAL VARIANTS AND INVESTIGATING THE EFFECT OF DISTANT INBREEDING

Author

Verweij, Karin J.H., Yang, Jian, Lahti, Jari, Veijola, Juha, Hintsanen, Mirka, Pulkki-Råback, Laura, Heinonen, Kati, Pouta, Anneli, Pesonen, Anu-Katriina, Widen, Elisabeth, Taanila, Anja, Isohanni, Matti, Miettunen, Jouko, Palotie, Aarno, Penke, Lars, Service, Susan K., Heath, Andrew C., Montgomery, Grant W., Raitakari, Olli, Kähönen, Mika, Viikari, Jorma, Räikkönen, Katri, Eriksson, Johan G, Keltikangas-Järvinen, Liisa, Lehtimäki, Terho, Martin, Nicholas G., Järvelin, Marjo-Riitta, Visscher, Peter M., Keller, Matthew C., and Zietsch, Brendan P.

Published
2012

30. Infant locomotive development and its association with adult blood pressure

Author

Pillas, Demetris, Kaakinen, Marika, Tzoulaki, Ioanna, Netuveli, Gopalakrishnan, Rodriguez, Alina, Fung, Erik, Tammelin, Tuija H., Blane, David, Millwood, Iona Y., Hardy, Rebecca, Sovio, Ulla, Pouta, Anneli, Hopstock, Laila Arnesdatter, Hartikainen, Anna-Liisa, Laitinen, Jaana, Vaara, Sarianna, Khan, Anokhi Ali, Chong, Raymond, Elliott, Paul, and Jarvelin, Marjo-Riitta

Published
2014
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31. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

Author

Schumann, Gunter, Coin, Lachlan J., Lourdusamy, Anbarasu, Charoen, Pimphen, Berger, Karen H., Stacey, David, Desrivières, Sylvane, Aliev, Fazil A., Khan, Anokhi A., Amin, Najaf, Aulchenko, Yurii S., Bakalkin, Georgy, Bakker, Stephan J., Balkau, Beverley, Beulens, Joline W., Bilbao, Ainhoa, de Boer, Rudolf A., Beury, Delphine, Bots, Michiel L., Breetvelt, Elemi J., Cauchi, Stéphane, Cavalcanti-Proença, Christine, Chambers, John C., Clarke, Toni-Kim, Dahmen, Norbert, de Geus, Eco J., Dick, Danielle, Ducci, Francesca, Easton, Alanna, Edenberg, Howard J., Esk, Tõnu, Fernández-Medarde, Alberto, Foroud, Tatiana, Freimer, Nelson B., Girault, Jean-Antoine, Grobbee, Diederick E., Guarrera, Simonetta, Gudbjartsson, Daniel F., Hartikainen, Anna-Liisa, Heath, Andrew C., Hesselbrock, Victor, Hofman, Albert, Hottenga, Jouke-Jan, Isohanni, Matti K., Kaprio, Jaakko, Khaw, Kay-Tee, Kuehnel, Brigitte, Laitinen, Jaana, Lobbens, Stéphane, Luan, Jian'an, Mangino, Massimo, Maroteaux, Matthieu, Matullo, Giuseppe, McCarthy, Mark I., Mueller, Christian, Navis, Gerjan, Numans, Mattijs E., Núñez, Alejandro, Nyholt, Dale R., Onland-Moret, Charlotte N., Oostra, Ben A., O'Reilly, Paul F., Palkovits, Miklos, Penninx, Brenda W., Polidoro, Silvia, Pouta, Anneli, Prokopenko, Inga, Ricceri, Fulvio, Santos, Eugenio, Smit, Johannes H., Soranzo, Nicole, Song, Kijoung, Sovio, Ulla, Stumvoll, Michael, Surakk, Ida, Thorgeirsson, Thorgeir E., Thorsteinsdottir, Unnur, Troakes, Claire, Tyrfingsson, Thorarinn, Tönjes, Anke, Uiterwaal, Cuno S., Uitterlinden, Andre G., van der Harst, Pim, van der Schouw, Yvonne T., Staehlin, Oliver, Vogelzangs, Nicole, Vollenweider, Peter, Waeber, Gerard, Wareham, Nicholas J., Waterworth, Dawn M., Whitfield, John B., Wichmann, Erich H., Willemsen, Gonneke, Witteman, Jacqueline C., Yuan, Xin, Zhai, Guangju, Zhao, Jing H., Zhang, Weihua, Martin, Nicholas G., Metspalu, Andres, Doering, Angela, Scott, James, Spector, Tim D., Loos, Ruth J., Boomsma, Dorret I., Mooser, Vincent, Peltonen, Leena, Stefansson, Kari, van Duijn, Cornelia M., Vineis, Paolo, Sommer, Wolfgang H., Kooner, Jaspal S., Spanagel, Rainer, Heberlein, Ulrike A., Jarvelin, Marjo-Riitta, Elliott, Paul, and Singer, Burton H.

Published
2011

36. A non-targeted LC–MS metabolic profiling of pregnancy: longitudinal evidence from healthy and pre-eclamptic pregnancies

Author

Jääskeläinen, Tiina, Kärkkäinen, Olli, Jokkala, Jenna, Klåvus, Anton, Heinonen, Seppo, Auriola, Seppo, Lehtonen, Marko, FINNPEC Core Investigator Group, Kajantie, Eero, Kere, Juha, Kivinen, Katja, Pouta, Anneli, Hanhineva, Kati, Laivuori, Hannele, Department of Food and Nutrition, Pregnancy and Genes, Medicum, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, Tampere University, Department of Gynaecology and Obstetrics, Clinical Medicine, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, and Research Programme for Molecular Neurology

Subjects
Non targeted, SAMPLES, Endocrinology, Diabetes and Metabolism, Metabolite, Clinical Biochemistry, Physiology, Biochemistry, Body Mass Index, chemistry.chemical_compound, 0302 clinical medicine, Pre-Eclampsia, Liquid chromatography–mass spectrometry, 3123 Gynaecology and paediatrics, Pregnancy, Tandem Mass Spectrometry, Medicine, URINE, MATERNAL METABOLISM, 0303 health sciences, 3. Good health, Metabolome, Gestation, Original Article, Female, Adult, 030209 endocrinology & metabolism, LC–MS, Preeclampsia, HIPPURIC-ACID, 03 medical and health sciences, Metabolomics, CORD PLASMA, Humans, FETAL, 030304 developmental biology, business.industry, CONSUMPTION, Maternal metabolism, medicine.disease, BIRTH-WEIGHT, LC-MS, chemistry, Case-Control Studies, CHOLINE, business, AMINO-ACID-CONCENTRATIONS, Chromatography, Liquid
Abstract

Introduction Maternal metabolism changes substantially during pregnancy. However, few studies have used metabolomics technologies to characterize changes across gestation. Objectives and methods We applied liquid chromatography–mass spectrometry (LC–MS) based non-targeted metabolomics to determine whether the metabolic profile of serum differs throughout the pregnancy between pre-eclamptic and healthy women in the FINNPEC (Finnish Genetics of Preeclampsia Consortium) Study. Serum samples were available from early and late pregnancy. Results Progression of pregnancy had large-scale effects to the serum metabolite profile. Altogether 50 identified metabolites increased and 49 metabolites decreased when samples of early pregnancy were compared to samples of late pregnancy. The metabolic signatures of pregnancy were largely shared in pre-eclamptic and healthy women, only urea, monoacylglyceride 18:1 and glycerophosphocholine were identified to be increased in the pre-eclamptic women when compared to healthy controls. Conclusions Our study highlights the need of large-scale longitudinal metabolomic studies in non-complicated pregnancies before more detailed understanding of metabolism in adverse outcomes could be provided. Our findings are one of the first steps for a broader metabolic understanding of the physiological changes caused by pregnancy per se.

Published
2021

37. Searching for a paternal phenotype for preeclampsia.

Author

Jaatinen, Noora, Jääskeläinen, Tiina, Ekholm, Eeva, Laivuori, Hannele, Heinonen, Seppo, Kajantie, Eero, Kere, Juha, Kivinen, Katja, and Pouta, Anneli

Subjects
PREGNANCY complications, PREECLAMPSIA, BODY mass index
Abstract

Introduction: Preeclampsia (PE) is a heterogeneous disorder and research to date has principally focused on maternal factors. In this study, however, we considered the associations between background factors and preeclampsia in men who fathered preeclamptic and non‐preeclamptic pregnancies. Material and methods: From 2008 to 2011, participants in the Finnish Genetics of Pre‐eclampsia Consortium (FINNPEC) cohort completed a questionnaire on their background information. Questionnaire data were available from 586 men who had fathered a preeclamptic pregnancy (PE fathers) and 660 control men who had fathered a non‐preeclamptic pregnancy. Two different control groups were established: Group 1: healthy controls (n = 457), which consisted of fathers whose current partners were healthy women with uncomplicated pregnancies; Group 2: other controls (n = 203), which also included fathers whose current partners had other pregnancy complications. Results: The PE fathers more often reported preeclampsia in a previously fathered pregnancy (p < 0.05 for all). The PE and control fathers were similar in age, body mass index, smoking, and preexisting medical conditions. There were no differences in the socioeconomic background or health history of the PE and control fathers or their parents. Conclusions: In the FINNPEC study cohort, the occurrence of preeclampsia in a previously fathered pregnancy was more common among the men who had fathered a preeclamptic pregnancy; other paternal phenotypic and lifestyle characteristics did not play a significant role in preeclampsia susceptibility of their partners. [ABSTRACT FROM AUTHOR]

Published
2022
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38. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author

Perry, John R. B., Day, Felix, Elks, Cathy E., Sulem, Patrick, Thompson, Deborah J., Ferreira, Teresa, He, Chunyan, Chasman, Daniel I., Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., McMahon, George, Nolte, Ilja M., Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Tšernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K., Amin, Najaf, Bierut, Laura J., Byrne, Enda M., Hottenga, Jouke-Jan, Koller, Daniel L., Mangino, Massimo, Pers, Tune H., Yerges-Armstrong, Laura M., Zhao, Jing Hua, Andrulis, Irene L., Anton-Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Buring, Julie E., Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collée, Margriet J., Couch, Fergus J., Couper, David, Coviello, Andrea D., Cox, Angela, Czene, Kamila, D’adamo, Adamo Pio, Smith, George Davey, De Vivo, Immaculata, Demerath, Ellen W., Dennis, Joe, Devilee, Peter, Dieffenbach, Aida K., Dunning, Alison M., Eiriksdottir, Gudny, Eriksson, Johan G., Fasching, Peter A., Ferrucci, Luigi, Flesch-Janys, Dieter, Flyger, Henrik, Foroud, Tatiana, Franke, Lude, Garcia, Melissa E., García-Closas, Montserrat, Geller, Frank, de Geus, Eco E. J., Giles, Graham G., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hamann, Ute, Haring, Robin, Hartman, Catharina A., Heath, Andrew C., Hofman, Albert, Hooning, Maartje J., Hopper, John L., Hu, Frank B., Hunter, David J., Karasik, David, Kiel, Douglas P., Knight, Julia A., Kosma, Veli-Matti, Kutalik, Zoltan, Lai, Sandra, Lambrechts, Diether, Lindblom, Annika, Mägi, Reedik, Magnusson, Patrik K., Mannermaa, Arto, Martin, Nicholas G., Masson, Gisli, McArdle, Patrick F., McArdle, Wendy L., Melbye, Mads, Michailidou, Kyriaki, Mihailov, Evelin, Milani, Lili, Milne, Roger L., Nevanlinna, Heli, Neven, Patrick, Nohr, Ellen A., Oldehinkel, Albertine J., Oostra, Ben A., Palotie, Aarno, Peacock, Munro, Pedersen, Nancy L., Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Postma, Dirkje S., Pouta, Anneli, Pylkäs, Katri, Radice, Paolo, Ring, Susan, Rivadeneira, Fernando, Robino, Antonietta, Rose, Lynda M., Rudolph, Anja, Salomaa, Veikko, Sanna, Serena, Schlessinger, David, Schmidt, Marjanka K., Southey, Mellissa C., Sovio, Ulla, Stampfer, Meir J., Stöckl, Doris, Storniolo, Anna M., Timpson, Nicholas J., Tyrer, Jonathan, Visser, Jenny A., Vollenweider, Peter, Völzke, Henry, Waeber, Gerard, Waldenberger, Melanie, Wallaschofski, Henri, Wang, Qin, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Wright, Margaret J., Boomsma, Dorret I., Econs, Michael J., Khaw, Kay-Tee, Loos, Ruth J. F., McCarthy, Mark I., Montgomery, Grant W., Rice, John P., Streeten, Elizabeth A., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Alizadeh, Behrooz Z., Bergmann, Sven, Boerwinkle, Eric, Boyd, Heather A., Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Harris, Tamara B., Ingelsson, Erik, Järvelin, Marjo-Riitta, Kraft, Peter, Lawlor, Debbie, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Snieder, Harold, Sørensen, Thorkild I. A., Spector, Tim D., Strachan, David P., Uitterlinden, André G., Wareham, Nicholas J., Widen, Elisabeth, Zygmunt, Marek, Murray, Anna, Easton, Douglas F., Stefansson, Kari, Murabito, Joanne M., and Ong, Ken K.

Published
2014
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41. Estimation of Newborn Risk for Child or Adolescent Obesity

Author

Morandi, Anita, primary, Meyre, David, additional, Lobbens, Stéphane, additional, Kleinman, Ken, additional, Kaakinen, Marika, additional, Rifas-Shiman, Sheryl, additional, Vatin, Vincent, additional, Gaget, Stefan, additional, Pouta, Anneli, additional, Hartikainen, Anna-Liisa, additional, Laitinen, Jaana, additional, Ruokonen, Aimo, additional, Das, Shikta, additional, Khan, Anokhi, additional, Elliott, Paul, additional, Maffeis, Claudio, additional, Gillman, Matthew, additional, Järvelin, Marjo-Riitta, additional, and Froguel, Philippe, additional

Published
2013
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42. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Author

Scott, Robert A, Lagou, Vasiliki, Welch, Ryan P, Wheeler, Eleanor, Montasser, May E, Luan, Jian'an, Mägi, Reedik, Strawbridge, Rona J, Rehnberg, Emil, Gustafsson, Stefan, Kanoni, Stavroula, Rasmussen-Torvik, Laura J, Yengo, Loïc, Lecoeur, Cecile, Shungin, Dmitry, Sanna, Serena, Sidore, Carlo, Johnson, Paul C D, Jukema, J Wouter, Johnson, Toby, Mahajan, Anubha, Verweij, Niek, Thorleifsson, Gudmar, Hottenga, Jouke-Jan, Shah, Sonia, Smith, Albert V, Sennblad, Bengt, Gieger, Christian, Salo, Perttu, Perola, Markus, Timpson, Nicholas J, Evans, David M, Pourcain, Beate St, Wu, Ying, Andrews, Jeanette S, Hui, Jennie, Bielak, Lawrence F, Zhao, Wei, Horikoshi, Momoko, Navarro, Pau, Isaacs, Aaron, O'Connell, Jeffrey R, Stirrups, Kathleen, Vitart, Veronique, Hayward, Caroline, Esko, Tõnu, Mihailov, Evelin, Fraser, Ross M, Fall, Tove, Voight, Benjamin F, Raychaudhuri, Soumya, Chen, Han, Lindgren, Cecilia M, Morris, Andrew P, Rayner, Nigel W, Robertson, Neil, Rybin, Denis, Liu, Ching-Ti, Beckmann, Jacques S, Willems, Sara M, Chines, Peter S, Jackson, Anne U, Kang, Hyun Min, Stringham, Heather M, Song, Kijoung, Tanaka, Toshiko, Peden, John F, Goel, Anuj, Hicks, Andrew A, An, Ping, Müller-Nurasyid, Martina, Franco-Cereceda, Anders, Folkersen, Lasse, Marullo, Letizia, Jansen, Hanneke, Oldehinkel, Albertine J, Bruinenberg, Marcel, Pankow, James S, North, Kari E, Forouhi, Nita G, Loos, Ruth J F, Edkins, Sarah, Varga, Tibor V, Hallmans, Göran, Oksa, Heikki, Antonella, Mulas, Nagaraja, Ramaiah, Trompet, Stella, Ford, Ian, Bakker, Stephan J L, Kong, Augustine, Kumari, Meena, Gigante, Bruna, Herder, Christian, Munroe, Patricia B, Caulfield, Mark, Antti, Jula, Mangino, Massimo, Small, Kerrin, Miljkovic, Iva, Liu, Yongmei, Atalay, Mustafa, Kiess, Wieland, James, Alan L, Rivadeneira, Fernando, Uitterlinden, Andre G, Palmer, Colin N A, Doney, Alex S F, Willemsen, Gonneke, Smit, Johannes H, Campbell, Susan, Polasek, Ozren, Bonnycastle, Lori L, Hercberg, Serge, Dimitriou, Maria, Bolton, Jennifer L, Fowkes, Gerard R, Kovacs, Peter, Lindström, Jaana, Zemunik, Tatijana, Bandinelli, Stefania, Wild, Sarah H, Basart, Hanneke V, Rathmann, Wolfgang, Grallert, Harald, Maerz, Winfried, Kleber, Marcus E, Boehm, Bernhard O, Peters, Annette, Pramstaller, Peter P, Province, Michael A, Borecki, Ingrid B, Hastie, Nicholas D, Rudan, Igor, Campbell, Harry, Watkins, Hugh, Farrall, Martin, Stumvoll, Michael, Ferrucci, Luigi, Waterworth, Dawn M, Bergman, Richard N, Collins, Francis S, Tuomilehto, Jaakko, Watanabe, Richard M, de Geus, Eco J C, Penninx, Brenda W, Hofman, Albert, Oostra, Ben A, Psaty, Bruce M, Vollenweider, Peter, Wilson, James F, Wright, Alan F, Hovingh, G Kees, Metspalu, Andres, Uusitupa, Matti, Magnusson, Patrik K E, Kyvik, Kirsten O, Kaprio, Jaakko, Price, Jackie F, Dedoussis, George V, Deloukas, Panos, Meneton, Pierre, Lind, Lars, Boehnke, Michael, Shuldiner, Alan R, van Duijn, Cornelia M, Morris, Andrew D, Toenjes, Anke, Peyser, Patricia A, Beilby, John P, Körner, Antje, Kuusisto, Johanna, Laakso, Markku, Bornstein, Stefan R, Schwarz, Peter E H, Lakka, Timo A, Rauramaa, Rainer, Adair, Linda S, Smith, George Davey, Spector, Tim D, Illig, Thomas, de Faire, Ulf, Hamsten, Anders, Gudnason, Vilmundur, Kivimaki, Mika, Hingorani, Aroon, Keinanen-Kiukaanniemi, Sirkka M, Saaristo, Timo E, Boomsma, Dorret I, Stefansson, Kari, van der Harst, Pim, Dupuis, Josée, Pedersen, Nancy L, Sattar, Naveed, Harris, Tamara B, Cucca, Francesco, Ripatti, Samuli, Salomaa, Veikko, Mohlke, Karen L, Balkau, Beverley, Froguel, Philippe, Pouta, Anneli, Jarvelin, Marjo-Riitta, Wareham, Nicholas J, Bouatia-Naji, Nabila, McCarthy, Mark I, Franks, Paul W, Meigs, James B, Teslovich, Tanya M, Florez, Jose C, Langenberg, Claudia, Ingelsson, Erik, Prokopenko, Inga, and Barroso, Inês

Published
2012
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43. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Author

Steinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O., Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Fadista, João, Sigurdsson, Jon K., Auro, Kirsi M., Berezina, Galina, Borges, Maria-Carolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A., Dudbridge, Frank, Engel, Stephanie M., Franklin, Christopher S., Frigge, Michael L., Frisbaek, Yr, Geirsson, Reynir T., Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun, Jääskeläinen, Tiina, Johannsdottir, Hrefna, Jonsdottir, Ingileif, Juliusdottir, Thorhildur, Kalsheker, Noor, Kasimov, Abdumadjit, Kemp, John P., Klungsøyr, Kari, Lee, Wai K., Melbye, Mads, Miedzybrodska, Zosia, Moffett, Ashley, Najmutdinova, Dilbar, Nishanova, Firuza, Olafsdottir, Thorunn, Perola, Markus, Poston, Lucilla, Prescott, Gordon, Saevarsdottir, Saedis, Salimbayeva, Damilya, Scaife, Paula Juliet, Skotte, Line, Staines-Urias, Eleonora, Stefansson, Olafur A., Sørensen, Karina Meden, Thomsen, Liv Cecilie Vestrheim, Tragante, Vinicius, Trogstad, Lill, Simpson, Nigel A. B., Aripova, Tamara, Casas, Juan P., Thorsteinsdottir, Unnur, Iversen, Ann-Charlotte, Feenstra, Bjarke, Lawlor, Deborah A., Boyd, Heather Allison, Magnus, Per, Zakhidova, Nodira, Svyatova, Gulnara, Stefansson, Kari, Laivuori, Hannele, Heinonen, Seppo, Kajantie, Eero, Kere, Juha, Kivinen, Katja, Pouta, Anneli, Morgan, Linda, Pipkin, Fiona Broughton, Walker, James J., Macphail, Sheila, Kilby, Mark, Habiba, Marwan, Williamson, Catherine, O’Shaughnessy, Kevin, O’Brien, Shaughn, Cameron, Alan, Redman, Christopher W. G., Farrall, Martin, Caulfield, Mark, Dominiczak, Anna F., Steinthorsdottir, Valgerdur [0000-0003-1846-6274], McGinnis, Ralph [0000-0003-4540-9857], Williams, Nicholas O. [0000-0003-3989-9167], Berezina, Galina [0000-0002-5442-4461], Bybjerg-Grauholm, Jonas [0000-0003-1705-4008], Dudbridge, Frank [0000-0002-8817-8908], Franklin, Christopher S. [0000-0003-3893-0759], Geller, Frank [0000-0002-9238-3269], Gudbjartsson, Daniel F. [0000-0002-5222-9857], Hougaard, David Michael [0000-0001-5928-3517], Helgadottir, Anna [0000-0002-1806-2467], Jääskeläinen, Tiina [0000-0002-1202-0936], Jonsdottir, Ingileif [0000-0001-8339-150X], Kemp, John P. [0000-0002-9105-2249], Kivinen, Katja [0000-0002-1135-7625], Melbye, Mads [0000-0001-8264-6785], Moffett, Ashley [0000-0002-8388-9073], Pipkin, Fiona Broughton [0000-0002-6209-5987], Prescott, Gordon [0000-0002-9156-2361], Saevarsdottir, Saedis [0000-0001-9392-6184], Skotte, Line [0000-0002-7398-1271], Stefansson, Olafur A. [0000-0002-9663-3018], Simpson, Nigel A. B. [0000-0002-0758-7583], Dominiczak, Anna F. [0000-0003-4913-3608], Walker, James J. [0000-0002-8922-083X], Iversen, Ann-Charlotte [0000-0001-7726-7684], Feenstra, Bjarke [0000-0003-1478-649X], Lawlor, Deborah A. [0000-0002-6793-2262], Boyd, Heather Allison [0000-0001-6849-9985], Laivuori, Hannele [0000-0003-3212-7826], Svyatova, Gulnara [0000-0001-5092-3143], Stefansson, Kari [0000-0003-1676-864X], Morgan, Linda [0000-0002-2995-4081], and Apollo - University of Cambridge Repository

Subjects
45, 692/699/75/243, 631/208/205/2138, 45/43, article, 692/699/2732
Abstract

Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal genome at ZNF831/20q13 and FTO/16q12. These are previously established variants for blood pressure (BP) and the FTO variant has also been associated with body mass index (BMI). Further analysis of BP variants establishes that variants at MECOM/3q26, FGF5/4q21 and SH2B3/12q24 also associate with preeclampsia through the maternal genome. We further show that a polygenic risk score for hypertension associates with preeclampsia. However, comparison with gestational hypertension indicates that additional factors modify the risk of preeclampsia.

Published
2020

45. Distinct variants at LIN28B influence growth in height from birth to adulthood

Author

Widen, Elisabeth, Ripatti, Samuli, Cousminer, Diana L., Surakka, Ida, Lappalainen, Tuuli, Jarvelin, Marjo-Riitta, Eriksson, Johan G., Raitakari, Olli, Salomaa, Veikko, Sovio, Ulla, Hartikainen, Anna-Liisa, Pouta, Anneli, McCarthy, Mark I., Osmond, Clive, Kajantie, Eero, Lehtimaki, Terho, Viikari, Jorma, Kahonen, Mika, Tyler-Smith, Chris, Freimer, Nelson, Hirschhorn, Joel N., Peltonen, Leena, and Palotie, Aarno

Subjects
Human growth -- Research, Stature -- Genetic aspects, Genetic regulation -- Analysis, Human population genetics -- Research, Biological sciences
Abstract

A unique resource of longitudinal childhood height data available in Finnish population cohorts was used to study the largely unknown genetic underpinnings of height growth. The partially correlated variants at LIN28B which influence the entire period of postnatal growth implied a critical role for LIN28B in the regulation of human growth.

Published
2010

49. Is initiation of smoking associated with the prodromal phase of schizophrenia?

Author

Riala, Kaisa, Hakko, Helina, Isohanni, Matti, Pouta, Anneli, and Rasanen, Pirkko

Subjects
Schizophrenia -- Psychological aspects, Smoking -- Causes of
Abstract

Objective: Although the association between smoking and schizophrenia is well known, little attention has been paid to the time between initiation of smoking and onset of schizophrenia. Our goal was [...]

Published
2005

50. Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances

Author

Fatemifar, Ghazaleh, Hoggart, Clive J., Paternoster, Lavinia, Kemp, John P., Prokopenko, Inga, Horikoshi, Momoko, Wright, Victoria J., Tobias, Jon H., Richmond, Stephen, Zhurov, Alexei I., Toma, Arshed M., Pouta, Anneli, Taanila, Anja, Sipila, Kirsi, Lähdesmäki, Raija, Pillas, Demetris, Geller, Frank, Feenstra, Bjarke, Melbye, Mads, Nohr, Ellen A., Ring, Susan M., St Pourcain, Beate, Timpson, Nicholas J., Davey Smith, George, Jarvelin, Marjo-Riitta, and Evans, David M.

Published
2013
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