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51 results on '"Männistö, Satu"'

1. Nonalcoholic Fatty Liver Disease Incidence and Remission and Their Predictors During 7 Years of Follow-up Among Finns

Author: Korpimäki, Satu, Rovio, Suvi P, Juonala, Markus, Hutri-Kähönen, Nina, Lehtimäki, Terho, Laitinen, Tomi P, Tossavainen, Päivi, Jokinen, Eero, Loo, Britt-Marie, Männistö, Satu, Tammelin, Tuija, Haarala, Atte, Aatola, Heikki, Komar, Gaber, Viikari, Jorma, Raitakari, Olli, Kähönen, Mika, and Pahkala, Katja
Published: 2024
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2. Projected changes in sitting and physical activity among midlife and older men and women in Finland

Author: Wennman, Heini, Borodulin, Katja, Jousilahti, Pekka, Laatikainen, Tiina, Mäki-Opas, Tomi, Männistö, Satu, Tolonen, Hanna, Valkeinen, Heli, and Härkänen, Tommi
Abstract: Aim: Population-based projections of sitting and physical activity (PA) help to guide PA programs. We aimed to project total and context specific sitting and PA until year 2028 in adults aged 46–74 years in Finland. Subject and methods: The population based DILGOM Study in 2007 and 2014 provided longitudinal data on self-reported weekday sitting in five contexts (work, vehicle, at home in front of TV, at home by computer, elsewhere), total sitting, and PA in three domains (occupational, commuting and leisure time). Projections until 2028 were generated using a Markovian multistate model and multiple imputation techniques by gender, age and education. Results: Total weekday sitting was projected to increase until 2028 only in the 64–74-year-olds and the low educated (+ 24 and + 32 min/day, p< 0.05, respectively). Sitting at home by computer was projected to increase on average 30 min/weekday (p< 0.05) and occupational PA decrease by 8 to 20%-units (p< 0.05) in all midlife and older adults. Further, sitting at home by TV and sitting elsewhere were projected to decrease in many, although not all groups. Conclusion: Projected changes suggest increase in sitting by computer and decrease in occupational PA, which indicate the growing importance of leisure-time as the potential mean to increase PA.
Published: 2023
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3. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author: Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
Abstract: Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.
Published: 2023
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4. Comparison of various strategies to define the optimal target population for liver fibrosis screening: A population‐based cohort study

Author: Åberg, Fredrik, Jula, Antti, Färkkilä, Martti, Salomaa, Veikko, Erlund, Iris, Männistö, Satu, Vihervaara, Terhi, Perola, Markus, Lundqvist, Annamari, and Männistö, Ville
Abstract: Liver fibrosis screening is recommended in high‐risk populations, but the optimal definition of “high risk” remains to be established. We compared the performance of several risk‐stratification strategies in a population‐based setting. Data were obtained from the Finnish population‐based health examination surveys Health 2000 and FINRISK 2002–2012. The Chronic Liver Disease Risk Score (CLivD) was compared to previously published risk‐stratification strategies based on elevated liver enzymes, alcohol use, diabetes, fatty liver index, body mass index, and/or metabolic risk factors for their ability to detect either advanced liver fibrosis or incident severe liver events. Advanced fibrosis was defined as an Enhanced Liver Fibrosis (ELFTM) score >9.8 in the Health 2000 study (n= 6084), and incident liver events were ascertained from registry linkage in the combined FINRISK 2002–2012 and Health 2000 cohort (n= 26,957). Depending on the cohort, 53%–60% of the population was considered at risk using the CLivD strategy (low‐intermediate‐high risk, excluding the minimal‐risk category), compared to 30%–32% according to the other risk‐stratification strategies. The CLivD captured 85%–91% of cases in the population with advanced liver fibrosis and 90% of incident severe liver events within 10 years from baseline. This compares to 33%–44% and 56%–67% captured by the other risk‐stratification strategies, respectively. The 10‐year cumulative incidence of liver events varied by risk‐stratification strategy (1.0%–1.4%). Compared to previously reported traditional risk factor‐based strategies, use of the CLivD captured substantially more cases with advanced liver disease in the population and may be superior for targeting further fibrosis screening.
Published: 2022
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5. Associations of Dietary Cholesterol, Serum Cholesterol, and Egg Consumption With Overall and Cause-Specific Mortality: Systematic Review and Updated Meta-Analysis

Author: Zhao, Bin, Gan, Lu, Graubard, Barry I., Männistö, Satu, Albanes, Demetrius, and Huang, Jiaqi
Published: 2022
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6. Association of Antiparietal Cell and Anti-Intrinsic Factor Antibodies With Risk of Gastric Cancer

Author: Song, Minkyo, Camargo, M. Constanza, Katki, Hormuzd A., Weinstein, Stephanie J., Männistö, Satu, Albanes, Demetrius, Surcel, Heljä-Marja, and Rabkin, Charles S.
Abstract: IMPORTANCE: Autoimmune gastritis is an alternative cause of gastric carcinogenesis. This cause may be gaining importance with declining prevalence of chronic Helicobacter pylori infection. OBJECTIVE: To determine the association of prediagnostic autoantibodies to gastric mucosa with gastric cancer (GC) risk. DESIGN, SETTING, AND PARTICIPANTS: This cohort study used nested GC case-control analyses within separate Finnish cohorts of women of reproductive age (Finnish Maternity Cohort [FMC]; born 1938-1989) and older men (Alpha-Tocopherol, Beta-Carotene Cancer Prevention [ATBC] Study; born 1916-1939). There were 529 and 457 matched pairs from the FMC and ATBC Study, respectively, with mean participant ages of 30.5 and 57.5 years and medians of 17 and 11 years from baseline to cancer diagnosis. Data analyses were performed between August 2019 and November 2020. EXPOSURES: Antiparietal cell antibodies (APCAs), anti-intrinsic factor antibodies, and anti–H pylori antibodies were measured in baseline serum using immunoassays. MAIN OUTCOMES AND MEASURES: Autoantibody associations were estimated by odds ratios (ORs) and 95% CIs. RESULTS: Of the 529 control participants in the FMC and 457 control participants in the ATBC Study, 53 (10%) women and 35 (7.7%) men were APCA seropositive, respectively, whereas 146 (28%) women and 329 (72%) men were H pylori seropositive. In the FMC, APCA seropositivity was statistically significantly associated with GC risk among H pylori-seronegative women (OR, 5.52; 95% CI, 3.16-9.64) but not H pylori-seropositive women (OR, 1.29; 95% CI, 0.64-2.60; P for interaction = .002). The APCA association with H pylori seronegativity was strongest for tumors in the fundus and corpus (OR, 24.84; 95% CI, 8.49-72.72). In the ATBC Study, APCA seropositivity was not associated with GC among either H pylori–seronegative men (OR, 0.99; 95% CI, 0.32-3.04) or H pylori–seropositive men (OR, 1.06; 95% CI, 0.60-1.88). In both cohorts, anti-intrinsic factor antibody seroprevalence was less than 2% among cases as well as controls and not statistically associated with GC risk. CONCLUSIONS AND RELEVANCE: Results of this cohort study demonstrate that autoantibody positivity may reflect subclinical autoimmune gastritis in younger women. The findings among young females and corpus subsite align with increasing cancer incidence trends for these groups. Stronger autoimmune associations in H pylori-seronegative individuals support a model of autoimmune gastritis replacing H pylori as the driving factor.
Published: 2022
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7. Birth weight modifies the association between a healthy Nordic diet and office blood pressure in old age

Author: Meinilä, Jelena, Perälä, Mia-Maria, Kanerva, Noora, Männistö, Satu, Wasenius, Niko, Kajantie, Eero, Salonen, Minna, and Eriksson, Johan Gunnar
Abstract: A healthy diet reduces risk for high blood pressure. A small body size at birth increases risk for high blood pressure. Our aim was to study whether birth weight modifies the association between a healthy Nordic diet, characterized by high intake of Nordic vegetables, fruits, and berries, whole-grain rye, oat, and barley, and rapeseed oil, and blood pressure. Finnish men and women (n= 960) born in 1934–1944 attended clinical visits including clinical measurements, and questionnaires in 2001–2004 and 2011–2013. Linear regression was applied to investigate the interactions between birth weight and Nordic diet (measured by the Baltic sea diet score (BSDS)) on blood pressure change during the 10-year follow-up. Baseline Nordic diet and birth weight showed a significant interaction on systolic blood pressure (SBP) (p= 0.02), and pulse pressure (PP) (p< 0.01) over a 10-year follow-up. In the lowest birth weight category (women < 2951 g, men < 3061 g), predicted SBP decreased across BSDS thirds (lowest (T1): 155 mmHg, highest (T3): 145 mmHg, pfor linearity = 0.01) as did predicted PP (T1: 71 mmHg, T3: 63 mmHg, p< 0.01). In the middle birth weight category, predicted SBP increased across BSDS thirds (T1: 151 mmHg, T3: 155 mmHg, p= 0.02) as did predicted PP (T1: 67 mmHg, T3: 71 mmHg, p< 0.01). In the highest birth weight category, no associations were found. Higher adherence to a healthy Nordic diet was associated with lower SBP and PP in individuals with low birth weight but with higher SBP and PP in those with average birth weight.
Published: 2021
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8. Dietary Pattern Trajectories from Youth to Adulthood and Adult Risk of Impaired Fasting Glucose: A 31-year Cohort Study

Author: Wu, Feitong, Pahkala, Katja, Juonala, Markus, Rovio, Suvi P, Sabin, Matthew A, Rönnemaa, Tapani, Buscot, Marie-Jeanne, Smith, Kylie J, Männistö, Satu, Jula, Antti, Lehtimäki, Terho, Hutri-Kähönen, Nina, Kähönen, Mika, Laitinen, Tomi, Viikari, Jorma S A, Raitakari, Olli T, and Magnussen, Costan G
Published: 2021
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9. A large-scale genome-wide association study meta-analysis of cannabis use disorder

Author: Johnson, Emma C, Demontis, Ditte, Thorgeirsson, Thorgeir E, Walters, Raymond K, Polimanti, Renato, Hatoum, Alexander S, Sanchez-Roige, Sandra, Paul, Sarah E, Wendt, Frank R, Clarke, Toni-Kim, Lai, Dongbing, Reginsson, Gunnar W, Zhou, Hang, He, June, Baranger, David A A, Gudbjartsson, Daniel F, Wedow, Robbee, Adkins, Daniel E, Adkins, Amy E, Alexander, Jeffry, Bacanu, Silviu-Alin, Bigdeli, Tim B, Boden, Joseph, Brown, Sandra A, Bucholz, Kathleen K, Bybjerg-Grauholm, Jonas, Corley, Robin P, Degenhardt, Louisa, Dick, Danielle M, Domingue, Benjamin W, Fox, Louis, Goate, Alison M, Gordon, Scott D, Hack, Laura M, Hancock, Dana B, Hartz, Sarah M, Hickie, Ian B, Hougaard, David M, Krauter, Kenneth, Lind, Penelope A, McClintick, Jeanette N, McQueen, Matthew B, Meyers, Jacquelyn L, Montgomery, Grant W, Mors, Ole, Mortensen, Preben B, Nordentoft, Merete, Pearson, John F, Peterson, Roseann E, Reynolds, Maureen D, Rice, John P, Runarsdottir, Valgerdur, Saccone, Nancy L, Sherva, Richard, Silberg, Judy L, Tarter, Ralph E, Tyrfingsson, Thorarinn, Wall, Tamara L, Webb, Bradley T, Werge, Thomas, Wetherill, Leah, Wright, Margaret J, Zellers, Stephanie, Adams, Mark J, Bierut, Laura J, Boardman, Jason D, Copeland, William E, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Grucza, Richard A, Harris, Kathleen Mullan, Heath, Andrew C, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Horwood, John, Iacono, William G, Johnson, Eric O, Kendler, Kenneth S, Kennedy, Martin A, Kranzler, Henry R, Madden, Pamela A F, Maes, Hermine H, Maher, Brion S, Martin, Nicholas G, McGue, Matthew, McIntosh, Andrew M, Medland, Sarah E, Nelson, Elliot C, Porjesz, Bernice, Riley, Brien P, Stallings, Michael C, Vanyukov, Michael M, Vrieze, Scott, Walters, Raymond, Polimanti, Renato, Johnson, Emma, McClintick, Jeanette, Hatoum, Alexander, He, June, Wendt, Frank, Zhou, Hang, Adams, Mark, Adkins, Amy, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna, Bigdeli, Tim, Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna, Edwards, Alexis, Fontanillas, Pierre, Foo, Jerome, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura, Hartmann, Annette, Hartz, Sarah, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffman, Per, Hottenga, Jouke, Kennedy, Martin, Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion, Mbarek, Hamdi, McIntosh, Andrew, McQueen, Matthew, Meyers, Jacquelyn, Milaneschi, Yuri, Palviainen, Teemu, Pearson, John, Peterson, Roseann, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy, Salvatore, Jessica, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley, Wedow, Robbee, Wetherill, Leah, Wills, Amanda, Boardman, Jason, Chen, Danfeng, Choi, Doo-Sup, Copeland, William, Culverhouse, Robert, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin, Elson, Sarah, Frye, Mark, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison, Nurnberger, John, Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, Wodarz, Norbert, Zill, Peter, Adkins, Daniel, Boden, Joseph, Boomsma, Dorret, Bierut, Laura, Brown, Sandra, Bucholz, Kathleen, Cichon, Sven, Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Dick, Danielle, Eriksson, Johan, Farrer, Lindsay, Foroud, Tatiana, Gillespie, Nathan, Goate, Alison, Goldman, David, Grucza, Richard, Hancock, Dana, Harris, Kathleen Mullan, Heath, Andrew, Hesselbrock, Victor, Hewitt, John, Hopfer, Christian, Horwood, John, Iacono, William, Johnson, Eric, Kaprio, Jaakko, Karpyak, Victor, Kendler, Kenneth, Kranzler, Henry, Krauter, Kenneth, Lichtenstein, Paul, Lind, Penelope, McGue, Matt, MacKillop, James, Madden, Pamela, Maes, Hermine, Magnusson, Patrik, Martin, Nicholas, Medland, Sarah, Montgomery, Grant, Nelson, Elliot, Nöthen, Markus, Palmer, Abraham, Pederson, Nancy, Penninx, Brenda, Porjesz, Bernice, Rice, John, Rietschel, Marcella, Riley, Brien, Rose, Richard, Rujescu, Dan, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael, Tarter, Ralph, Vanyukov, Michael, Vrieze, Scott, Wall, Tamara, Whitfield, John, Zhao, Hongyu, Neale, Benjamin, Gelernter, Joel, Edenberg, Howard, Agrawal, Arpana, Davis, Lea K, Bogdan, Ryan, Gelernter, Joel, Edenberg, Howard J, Stefansson, Kari, Børglum, Anders D, and Agrawal, Arpana
Abstract: Variation in liability to cannabis use disorder has a strong genetic component (estimated twin and family heritability about 50–70%) and is associated with negative outcomes, including increased risk of psychopathology. The aim of the study was to conduct a large genome-wide association study (GWAS) to identify novel genetic variants associated with cannabis use disorder.
Published: 2020
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10. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

Author: Erzurumluoglu, A. Mesut, Liu, Mengzhen, Jackson, Victoria E., Barnes, Daniel R., Datta, Gargi, Melbourne, Carl A., Young, Robin, Batini, Chiara, Surendran, Praveen, Jiang, Tao, Adnan, Sheikh Daud, Afaq, Saima, Agrawal, Arpana, Altmaier, Elisabeth, Antoniou, Antonis C., Asselbergs, Folkert W., Baumbach, Clemens, Bierut, Laura, Bertelsen, Sarah, Boehnke, Michael, Bots, Michiel L., Brazel, David M, Chambers, John C., Chang-Claude, Jenny, Chen, Chu, Corley, Janie, Chou, Yi-Ling, David, Sean P., de Boer, Rudolf A., de Leeuw, Christiaan A., Dennis, Joe G., Dominiczak, Anna F., Dunning, Alison M., Easton, Douglas F., Eaton, Charles, Elliott, Paul, Evangelou, Evangelos, Faul, Jessica D., Foroud, Tatiana, Goate, Alison, Gong, Jian, Grabe, Hans J., Haessler, Jeff, Haiman, Christopher, Hallmans, Göran, Hammerschlag, Anke R., Harris, Sarah E., Hattersley, Andrew, Heath, Andrew, Hsu, Chris, Iacono, William G., Kanoni, Stavroula, Kapoor, Manav, Kaprio, Jaakko, Kardia, Sharon L., Karpe, Fredrik, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charles, Kuulasmaa, Kari, Laakso, Markku, Lai, Dongbing, Langenberg, Claudia, Le, Nhung, Lettre, Guillaume, Loukola, Anu, Luan, Jian’an, Madden, Pamela A. F., Mangino, Massimo, Marioni, Riccardo E., Marouli, Eirini, Marten, Jonathan, Martin, Nicholas G., McGue, Matt, Michailidou, Kyriaki, Mihailov, Evelin, Moayyeri, Alireza, Moitry, Marie, Müller-Nurasyid, Martina, Naheed, Aliya, Nauck, Matthias, Neville, Matthew J., Nielsen, Sune Fallgaard, North, Kari, Perola, Markus, Pharoah, Paul D. P., Pistis, Giorgio, Polderman, Tinca J., Posthuma, Danielle, Poulter, Neil, Qaiser, Beenish, Rasheed, Asif, Reiner, Alex, Renström, Frida, Rice, John, Rohde, Rebecca, Rolandsson, Olov, Samani, Nilesh J., Samuel, Maria, Schlessinger, David, Scholte, Steven H, Scott, Robert A., Sever, Peter, Shao, Yaming, Shrine, Nick, Smith, Jennifer A., Starr, John M., Stirrups, Kathleen, Stram, Danielle, Stringham, Heather M., Tachmazidou, Ioanna, Tardif, Jean-Claude, Thompson, Deborah J., Tindle, Hilary A., Tragante, Vinicius, Trompet, Stella, Turcot, Valerie, Tyrrell, Jessica, Vaartjes, Ilonca, van der Leij, Andries R, van der Meer, Peter, Varga, Tibor V., Verweij, Niek, Völzke, Henry, Wareham, Nicholas J., Warren, Helen R., Weir, David R., Weiss, Stefan, Wetherill, Leah, Yaghootkar, Hanieh, Yavas, Ersin, Jiang, Yu, Chen, Fang, Zhan, Xiaowei, Zhang, Weihua, Zhao, Wei, Zhao, Wei, Zhou, Kaixin, Amouyel, Philippe, Blankenberg, Stefan, Caulfield, Mark J., Chowdhury, Rajiv, Cucca, Francesco, Deary, Ian J., Deloukas, Panos, Di Angelantonio, Emanuele, Ferrario, Marco, Ferrières, Jean, Franks, Paul W., Frayling, Tim M., Frossard, Philippe, Hall, Ian P., Hayward, Caroline, Jansson, Jan-Håkan, Jukema, J. Wouter, Kee, Frank, Männistö, Satu, Metspalu, Andres, Munroe, Patricia B., Nordestgaard, Børge Grønne, Palmer, Colin N. A., Salomaa, Veikko, Sattar, Naveed, Spector, Timothy, Strachan, David Peter, van der Harst, Pim, Zeggini, Eleftheria, Saleheen, Danish, Butterworth, Adam S., Wain, Louise V., Abecasis, Goncalo R., Danesh, John, Tobin, Martin D., Vrieze, Scott, Liu, Dajiang J., and Howson, Joanna M. M.
Abstract: Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P< 5 × 10−8in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P< 5 × 10−8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P< 4.5 × 10−3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141and two low-frequency SNVs in CEP350and HDGFRP2. Functional follow-up implied that decreased expression of REV3Lmay lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.
Published: 2020
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11. Application of non-HDL cholesterol for population-based cardiovascular risk stratification: results from the Multinational Cardiovascular Risk Consortium

Author: Brunner, Fabian J, Waldeyer, Christoph, Ojeda, Francisco, Salomaa, Veikko, Kee, Frank, Sans, Susana, Thorand, Barbara, Giampaoli, Simona, Brambilla, Paolo, Tunstall-Pedoe, Hugh, Moitry, Marie, Iacoviello, Licia, Veronesi, Giovanni, Grassi, Guido, Mathiesen, Ellisiv B, Söderberg, Stefan, Linneberg, Allan, Brenner, Hermann, Amouyel, Philippe, Ferrières, Jean, Tamosiunas, Abdonas, Nikitin, Yuriy P, Drygas, Wojciech, Melander, Olle, Jöckel, Karl-Heinz, Leistner, David M, Shaw, Jonathan E, Panagiotakos, Demosthenes B, Simons, Leon A, Kavousi, Maryam, Vasan, Ramachandran S, Dullaart, Robin P F, Wannamethee, S Goya, Risérus, Ulf, Shea, Steven, de Lemos, James A, Omland, Torbjørn, Kuulasmaa, Kari, Landmesser, Ulf, Blankenberg, Stefan, Zeller, Tanja, Kontto, Jukka, Männistö, Satu, Metspalu, Andres, Lackner, Karl, Wild, Philipp, Peters, Annette, Meisinger, Christa, Donfrancesco, Chiara, Signorini, Stefano G., Alver, Maris, Woodward, Mark, Gianfagna, Francesco, Costanzo, Simona, Wilsgaard, Tom, Eliasson, Mats, Jørgensen, Torben, Völzke, Henry, Dörr, Marcus, Nauck, Matthias, Schöttker, Ben, Lorenz, Thiess, Makarova, Nataliya, Twerenbold, Raphael, Dallongeville, Jean, Dobson, Annette, Malyutina, Sofia, Pajak, Andrzej, Engström, Gunnar, Bobak, Martin, Schmidt, Börge, Jääskeläinen, Tuija, Niiranen, Teemu, Jousilahti, Pekka, Giles, Graham, Hodge, Allison, Klotsche, Jens, Magliano, Dianna J., Lyngbakken, Magnus N., Hveem, Kristian, Pitsavos, Christos, Benjamin, Emelia J., Bakker, Stephan J.L., Whincup, Peter, Ikram, M. Kamran, Ingelsson, Martin, and Koenig, Wolfgang
Abstract: The relevance of blood lipid concentrations to long-term incidence of cardiovascular disease and the relevance of lipid-lowering therapy for cardiovascular disease outcomes is unclear. We investigated the cardiovascular disease risk associated with the full spectrum of bloodstream non-HDL cholesterol concentrations. We also created an easy-to-use tool to estimate the long-term probabilities for a cardiovascular disease event associated with non-HDL cholesterol and modelled its risk reduction by lipid-lowering treatment.
Published: 2019
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12. Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium

Author: Merino, Jordi, Dashti, Hassan S., Li, Sherly X., Sarnowski, Chloé, Justice, Anne E., Graff, Misa, Papoutsakis, Constantina, Smith, Caren E., Dedoussis, George V., Lemaitre, Rozenn N., Wojczynski, Mary K., Männistö, Satu, Ngwa, Julius S., Kho, Minjung, Ahluwalia, Tarunveer S., Pervjakova, Natalia, Houston, Denise K., Bouchard, Claude, Huang, Tao, Orho-Melander, Marju, Frazier-Wood, Alexis C., Mook-Kanamori, Dennis O., Pérusse, Louis, Pennell, Craig E., de Vries, Paul S., Voortman, Trudy, Li, Olivia, Kanoni, Stavroula, Rose, Lynda M., Lehtimäki, Terho, Zhao, Jing Hua, Feitosa, Mary F., Luan, Jian’an, McKeown, Nicola M., Smith, Jennifer A., Hansen, Torben, Eklund, Niina, Nalls, Mike A., Rankinen, Tuomo, Huang, Jinyan, Hernandez, Dena G., Schulz, Christina-Alexandra, Manichaikul, Ani, Li-Gao, Ruifang, Vohl, Marie-Claude, Wang, Carol A., van Rooij, Frank J. A., Shin, Jean, Kalafati, Ioanna P., Day, Felix, Ridker, Paul M., Kähönen, Mika, Siscovick, David S., Langenberg, Claudia, Zhao, Wei, Astrup, Arne, Knekt, Paul, Garcia, Melissa, Rao, D. C., Qi, Qibin, Ferrucci, Luigi, Ericson, Ulrika, Blangero, John, Hofman, Albert, Pausova, Zdenka, Mikkilä, Vera, Wareham, Nick J., Kardia, Sharon L. R, Pedersen, Oluf, Jula, Antti, Curran, Joanne E., Zillikens, M. Carola, Viikari, Jorma S., Forouhi, Nita G., Ordovás, José M., Lieske, John C., Rissanen, Harri, Uitterlinden, André G., Raitakari, Olli T., Kiefte-de Jong, Jessica C., Dupuis, Josée, Rotter, Jerome I., North, Kari E., Scott, Robert A., Province, Michael A., Perola, Markus, Cupples, L. Adrienne, Turner, Stephen T., Sørensen, Thorkild I. A., Salomaa, Veikko, Liu, Yongmei, Sung, Yun J., Qi, Lu, Bandinelli, Stefania, Rich, Stephen S., de Mutsert, Renée, Tremblay, Angelo, Oddy, Wendy H., Franco, Oscar H., Paus, Tomas, Florez, Jose C., Deloukas, Panos, Lyytikäinen, Leo-Pekka, Chasman, Daniel I., Chu, Audrey Y., and Tanaka, Toshiko
Abstract: Macronutrient intake, the proportion of calories consumed from carbohydrate, fat, and protein, is an important risk factor for metabolic diseases with significant familial aggregation. Previous studies have identified two genetic loci for macronutrient intake, but incomplete coverage of genetic variation and modest sample sizes have hindered the discovery of additional loci. Here, we expanded the genetic landscape of macronutrient intake, identifying 12 suggestively significant loci (P< 1 × 10−6) associated with intake of any macronutrient in 91,114 European ancestry participants. Four loci replicated and reached genome-wide significance in a combined meta-analysis including 123,659 European descent participants, unraveling two novel loci; a common variant in RARBlocus for carbohydrate intake and a rare variant in DRAM1locus for protein intake, and corroborating earlier FGF21and FTOfindings. In additional analysis of 144,770 participants from the UK Biobank, all identified associations from the two-stage analysis were confirmed except for DRAM1. Identified loci might have implications in brain and adipose tissue biology and have clinical impact in obesity-related phenotypes. Our findings provide new insight into biological functions related to macronutrient intake.
Published: 2019
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13. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Author: Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard, and Peters, Ulrike
Published: 2023
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14. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author: Laskar, Ruhina, Muller, David, Li, Peng, Machiela, Mitchell, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan, Colli, Leandro, Sampson, Joshua, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Borje, Sitaram, Raviprakash, Giles, Graham, Milne, Roger, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna, Wolk, Alicja, Banks, Rosamonde, Selby, Peter, Easton, Douglas, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter, Edwards, Todd, Lipworth, Loren, Carol, Hallie, Freedman, Matthew, Pomerantz, Mark, Cho, Eunyoung, Kraft, Peter, Preston, Mark, Wilson, Kathryn, Michael Gaziano, J., Sesso, Howard, Black, Amanda, Freedman, Neal, Huang, Wen-Yi, Anema, John, Kahnoski, Richard, Lane, Brian, Noyes, Sabrina, Petillo, David, Teh, Bin, Peters, Ulrike, White, Emily, Anderson, Garnet, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee, Choueiri, Toni, Wood, Christopher, Johansson, Mattias, McKay, James, Brown, Kevin, Rothman, Nathaniel, Lathrop, Mark, Deleuze, Jean-Francois, Wu, Xifeng, Brennan, Paul, Chanock, Stephen, Purdue, Mark, and Scelo, Ghislaine
Abstract: Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (ORmale) = 0.83 [95% CI = 0.78-0.89], Pmale= 1.71 × 10−8compared with female odds ratio (ORfemale) = 0.98 [95% CI = 0.90–1.07], Pfemale= 0.68) and 12q23.3 (intergenic, ORmale= 0.75 [95% CI = 0.68-0.83], Pmale= 1.59 × 10−8compared with ORfemale= 0.93 [95% CI = 0.82–1.06], Pfemale= 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.
Published: 2019
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15. Healthy diets and telomere length and attrition during a 10-year follow-up

Author: Meinilä, Jelena, Perälä, Mia-Maria, Kautiainen, Hannu, Männistö, Satu, Kanerva, Noora, Shivappa, Nitin, Hébert, James R., Iozzo, Patricia, Guzzardi, Maria Angela, and Eriksson, Johan G.
Abstract: Background: Telomeres are repeats of DNA that contain the sequence TTAGGG at the ends of each chromosome, and their function is to protect DNA from damage. Little evidence exists regarding the relationship between dietary patterns and telomere length, especially derived applying longitudinal design. The aim was to study if overall dietary pattern is associated with leukocyte telomere length (LTL) or faster telomere attrition or both. Methods: The setting was longitudinal and observational. Participants were 456 men and 590 women whose birth settled in between 1934 and 1944 and who participated in the Helsinki Birth Cohort Study. Baltic sea diet score (BSDS), modified Mediterranean diet score (mMED), and dietary inflammatory index (DII®) were calculated based on a 128-item food frequency questionnaire (FFQ) collected in 2001–2004. LTL was measured twice, in 2001–2004 and in 2011–2013 by quantitative real-time polymerase chain reaction. Association between the dietary patterns and LTL were analysed by general linear models with appropriate contrasts. Results: BSDS, mMED, and DII did not associate with LTL in the cross-sectional analysis in men or women. Higher mMED at baseline (2001–2004) was associated with slightly faster LTL shortening during the follow-up (standardized ß −0.08, 95% CI −0.15, −0.01). No association between mMED and LTL change was found in men. Adherence to BSDS and DII did not associate with LTL change in men or women. Conclusion: Baltic sea diet, Mediterranean diet, and diet’s inflammatory potential seem to have only little impact on telomere length and telomere attrition in elderly Finnish men and women.
Published: 2019
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16. Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics

Author: Fest, Jesse, Vijfhuizen, Lisanne S, Goeman, Jelle J, Veth, Olga, Joensuu, Anni, Perola, Markus, Männistö, Satu, Ness-Jensen, Eivind, Hveem, Kristian, Haller, Toomas, Tonisson, Neeme, Mikkel, Kairit, Metspalu, Andres, van Duijn, Cornelia M, Ikram, Arfan, Stricker, Bruno H, Ruiter, Rikje, van Eijck, Casper H J, van Ommen, Gert-Jan B, and ʼt Hoen, Peter A C
Abstract: Most patients with pancreatic cancer present with advanced disease and die within the first year after diagnosis. Predictive biomarkers that signal the presence of pancreatic cancer in an early stage are desperately needed. We aimed to identify new and validate previously found plasma metabolomic biomarkers associated with early stages of pancreatic cancer. Prediagnostic blood samples from individuals who were to receive a diagnosis of pancreatic cancer between 1 month and 17 years after sampling (N = 356) and age- and sex-matched controls (N = 887) were collected from five large population cohorts (HUNT2, HUNT3, FINRISK, Estonian Biobank, Rotterdam Study). We applied proton nuclear magnetic resonance–based metabolomics on the Nightingale platform. Logistic regression identified two interesting hits: glutamine (P= 0.011) and histidine (P= 0.012), with Westfall–Young family-wise error rate adjusted Pvalues of 0.43 for both. Stratification in quintiles showed a 1.5-fold elevated risk for the lowest 20% of glutamine and a 2.2-fold increased risk for the lowest 20% of histidine. Stratification by time to diagnosis suggested glutamine to be involved in an earlier process (2 to 5 years before diagnosis), and histidine in a process closer to the actual onset (<2 years). Our data did not support the branched-chain amino acids identified earlier in several US cohorts as potential biomarkers for pancreatic cancer. Thus, although we identified glutamine and histidine as potential biomarkers of biological interest, our results imply that a study at this scale does not yield metabolomic biomarkers with sufficient predictive value to be clinically useful per seas prognostic biomarkers.
Published: 2019
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17. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Author: Justice, Anne E., Karaderi, Tugce, Highland, Heather M., Young, Kristin L., Graff, Mariaelisa, Lu, Yingchang, Turcot, Valérie, Auer, Paul L., Fine, Rebecca S., Guo, Xiuqing, Schurmann, Claudia, Lempradl, Adelheid, Marouli, Eirini, Mahajan, Anubha, Winkler, Thomas W., Locke, Adam E., Medina-Gomez, Carolina, Esko, Tõnu, Vedantam, Sailaja, Giri, Ayush, Lo, Ken Sin, Alfred, Tamuno, Mudgal, Poorva, Ng, Maggie C. Y., Heard-Costa, Nancy L., Feitosa, Mary F., Manning, Alisa K., Willems, Sara M., Sivapalaratnam, Suthesh, Abecasis, Goncalo, Alam, Dewan S., Allison, Matthew, Amouyel, Philippe, Arzumanyan, Zorayr, Balkau, Beverley, Bastarache, Lisa, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Broer, Linda, Burt, Amber A., Butterworth, Adam S., Caulfield, Mark J., Cesana, Giancarlo, Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Collins, Francis S., Cook, James P., Cox, Amanda J., Crosslin, David S., Danesh, John, de Bakker, Paul I. W., Denus, Simon de, Mutsert, Renée de, Dedoussis, George, Demerath, Ellen W., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Dörr, Marcus, Drenos, Fotios, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Fornage, Myriam, Fox, Caroline S., Franks, Paul W., Friedrich, Nele, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Girotto, Giorgia, Gorski, Mathias, Grallert, Harald, Grarup, Niels, Grove, Megan L., Gustafsson, Stefan, Haessler, Jeff, Hansen, Torben, Hattersley, Andrew T., Hayward, Caroline, Heid, Iris M., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Hung, Yi-Jen, Hveem, Kristian, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jarvik, Gail P., Jia, Yucheng, Jørgensen, Torben, Jousilahti, Pekka, Justesen, Johanne M., Kahali, Bratati, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kovacs, Peter, Krämer, Bernhard K., Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lee, Wen-Jane, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Luan, Jian’an, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mägi, Reedik, Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Masca, Nicholas G. D., McCarthy, Mark I., Meidtner, Karina, Mihailov, Evelin, Moilanen, Leena, Moitry, Marie, Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Ntalla, Ioanna, O’Connell, Jeffrey R., Owen, Katharine R., Pedersen, Oluf, Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Ewing, Ailith, Polasek, Ozren, Raitakari, Olli T., Rasheed, Asif, Raulerson, Chelsea K., Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Ridker, Paul M., Rivas, Manuel A., Robertson, Neil R., Robino, Antonietta, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo, Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Blair H., Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swart, Karin M. A., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Torres, Mina, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Uitterlinden, André G., Uusitupa, Matti, van Duijn, Cornelia M., Vanhala, Mauno, Varma, Rohit, Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zheng, He, Zhou, Wei, Zillikens, M. Carola, Rivadeneira, Fernando, Borecki, Ingrid B., Pospisilik, J. Andrew, Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, Mohlke, Karen L., Rotter, Jerome I., Kutalik, Zoltán, Hirschhorn, Joel N., Cupples, L. Adrienne, Loos, Ruth J. F., North, Kari E., and Lindgren, Cecilia M.
Abstract: Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in DrosophilaRNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
Published: 2019
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18. Discovery of common and rare genetic risk variants for colorectal cancer

Author: Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria-Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J. M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan-Ling, Huang, Wen-Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun-Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D. P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min-Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, and Peters, Ulrike
Abstract: To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P<5 × 10−8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Krüppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.
Published: 2019
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19. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

Author: Walters, Raymond K., Polimanti, Renato, Johnson, Emma C., McClintick, Jeanette N., Adams, Mark J., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Fontanillas, Pierre, Foo, Jerome C., Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffmann, Per, Jan Hottenga, Jouke, Kennedy, Martin A., Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S., Mbarek, Hamdi, McIntosh, Andrew M., McQueen, Matthew B., Meyers, Jacquelyn L., Milaneschi, Yuri, Palviainen, Teemu, Pearson, John F., Peterson, Roseann E., Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy L., Salvatore, Jessica E., Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T., Wedow, Robbee, Wetherill, Leah, Wills, Amanda G., Boardman, Jason D., Chen, Danfeng, Choi, Doo-Sup, Copeland, William E., Culverhouse, Robert C., Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W., Elson, Sarah L., Frye, Mark A., Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T., Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D., Nurnberger, John I., Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A., Soyka, Michael, Treutlein, Jens, Witt, Stephanie, Wodarz, Norbert, Zill, Peter, Adkins, Daniel E., Boden, Joseph M., Boomsma, Dorret I., Bierut, Laura J., Brown, Sandra A., Bucholz, Kathleen K., Cichon, Sven, Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Dick, Danielle M., Eriksson, Johan G., Farrer, Lindsay A., Foroud, Tatiana M., Gillespie, Nathan A., Goate, Alison M., Goldman, David, Grucza, Richard A., Hancock, Dana B., Harris, Kathleen Mullan, Heath, Andrew C., Hesselbrock, Victor, Hewitt, John K., Hopfer, Christian J., Horwood, John, Iacono, William, Johnson, Eric O., Kaprio, Jaakko A., Karpyak, Victor M., Kendler, Kenneth S., Kranzler, Henry R., Krauter, Kenneth, Lichtenstein, Paul, Lind, Penelope A., McGue, Matt, MacKillop, James, Madden, Pamela A. F., Maes, Hermine H., Magnusson, Patrik, Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Nelson, Elliot C., Nöthen, Markus M., Palmer, Abraham A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Porjesz, Bernice, Rice, John P., Rietschel, Marcella, Riley, Brien P., Rose, Richard, Rujescu, Dan, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael C., Tarter, Ralph E., Vanyukov, Michael M., Vrieze, Scott, Wall, Tamara L., Whitfield, John B., Zhao, Hongyu, Neale, Benjamin M., Gelernter, Joel, Edenberg, Howard J., and Agrawal, Arpana
Abstract: Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest genome-wide association study to date of DSM-IV-diagnosed AD. Genome-wide data on 14,904 individuals with AD and 37,944 controls from 28 case–control and family-based studies were meta-analyzed, stratified by genetic ancestry (European, n= 46,568; African, n= 6,280). Independent, genome-wide significant effects of different ADH1Bvariants were identified in European (rs1229984; P= 9.8 × 10–13) and African ancestries (rs2066702; P= 2.2 × 10–9). Significant genetic correlations were observed with 17 phenotypes, including schizophrenia, attention deficit–hyperactivity disorder, depression, and use of cigarettes and cannabis. The genetic underpinnings of AD only partially overlap with those for alcohol consumption, underscoring the genetic distinction between pathological and nonpathological drinking behaviors.
Published: 2018
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20. Food and nutrient intakes by temperament traits: findings in the Helsinki Birth Cohort Study

Author: Perälä, Mia-Maria, Tiainen, Anna-Maija, Lahti, Jari, Männistö, Satu, Lahti, Marius, Heinonen, Kati, Kaartinen, Niina, Pesonen, Anu-Katriina, Kajantie, Eero, Räikkönen, Katri, and Eriksson, Johan
Abstract: Previous studies have shown that the temperament traits are related to risk factors for chronic diseases, which could be partly explained by lifestyle habits. However, little is known whether temperament traits associate with diet. The aim of this study was to examine the cross-sectional associations between temperament traits and the whole diet. We studied 1668 men and women, aged 56−70, from the Helsinki Birth Cohort Study. Temperament was measured using the Tridimensional Personality Questionnaire. Information on diet was collected by a validated 128-item food frequency questionnaire. The associations of temperament traits; novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (P), with diet were tested by linear regression analysis. After adjustment for potential confounders, greater HA was related to poorer diet quality, including lower consumption of vegetables, fruits, fish and several vitamins. RD was associated with healthier diet quality, including higher consumption of vegetables and intake of vitamin E and lower intake of alcohol. NS was significantly related to higher intake of fish, fat and alcohol and lower consumption of cereals, milk products and carbohydrates. No significant associations between P and intake of foods and nutrients were observed. Our results suggest that there is an association between temperament traits and diet. Especially greater HA seems to associate with poorer diet quality and greater RD with healthier diet quality.
Published: 2018
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21. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Author: Mahajan, Anubha, Wessel, Jennifer, Willems, Sara M., Zhao, Wei, Robertson, Neil R., Chu, Audrey Y., Gan, Wei, Kitajima, Hidetoshi, Taliun, Daniel, Rayner, N. William, Guo, Xiuqing, Lu, Yingchang, Li, Man, Jensen, Richard A., Hu, Yao, Huo, Shaofeng, Lohman, Kurt K., Zhang, Weihua, Cook, James P., Prins, Bram Peter, Flannick, Jason, Grarup, Niels, Trubetskoy, Vassily Vladimirovich, Kravic, Jasmina, Kim, Young Jin, Rybin, Denis V., Yaghootkar, Hanieh, Müller-Nurasyid, Martina, Meidtner, Karina, Li-Gao, Ruifang, Varga, Tibor V., Marten, Jonathan, Li, Jin, Smith, Albert Vernon, An, Ping, Ligthart, Symen, Gustafsson, Stefan, Malerba, Giovanni, Demirkan, Ayse, Tajes, Juan Fernandez, Steinthorsdottir, Valgerdur, Wuttke, Matthias, Lecoeur, Cécile, Preuss, Michael, Bielak, Lawrence F., Graff, Marielisa, Highland, Heather M., Justice, Anne E., Liu, Dajiang J., Marouli, Eirini, Peloso, Gina Marie, Warren, Helen R., Afaq, Saima, Afzal, Shoaib, Ahlqvist, Emma, Almgren, Peter, Amin, Najaf, Bang, Lia B., Bertoni, Alain G., Bombieri, Cristina, Bork-Jensen, Jette, Brandslund, Ivan, Brody, Jennifer A., Burtt, Noël P., Canouil, Mickaël, Chen, Yii-Der Ida, Cho, Yoon Shin, Christensen, Cramer, Eastwood, Sophie V., Eckardt, Kai-Uwe, Fischer, Krista, Gambaro, Giovanni, Giedraitis, Vilmantas, Grove, Megan L., de Haan, Hugoline G., Hackinger, Sophie, Hai, Yang, Han, Sohee, Tybjærg-Hansen, Anne, Hivert, Marie-France, Isomaa, Bo, Jäger, Susanne, Jørgensen, Marit E., Jørgensen, Torben, Käräjämäki, Annemari, Kim, Bong-Jo, Kim, Sung Soo, Koistinen, Heikki A., Kovacs, Peter, Kriebel, Jennifer, Kronenberg, Florian, Läll, Kristi, Lange, Leslie A., Lee, Jung-Jin, Lehne, Benjamin, Li, Huaixing, Lin, Keng-Hung, Linneberg, Allan, Liu, Ching-Ti, Liu, Jun, Loh, Marie, Mägi, Reedik, Mamakou, Vasiliki, McKean-Cowdin, Roberta, Nadkarni, Girish, Neville, Matt, Nielsen, Sune F., Ntalla, Ioanna, Peyser, Patricia A., Rathmann, Wolfgang, Rice, Kenneth, Rich, Stephen S., Rode, Line, Rolandsson, Olov, Schönherr, Sebastian, Selvin, Elizabeth, Small, Kerrin S., Stančáková, Alena, Surendran, Praveen, Taylor, Kent D., Teslovich, Tanya M., Thorand, Barbara, Thorleifsson, Gudmar, Tin, Adrienne, Tönjes, Anke, Varbo, Anette, Witte, Daniel R., Wood, Andrew R., Yajnik, Pranav, Yao, Jie, Yengo, Loïc, Young, Robin, Amouyel, Philippe, Boeing, Heiner, Boerwinkle, Eric, Bottinger, Erwin P., Chowdhury, Rajiv, Collins, Francis S., Dedoussis, George, Dehghan, Abbas, Deloukas, Panos, Ferrario, Marco M., Ferrières, Jean, Florez, Jose C., Frossard, Philippe, Gudnason, Vilmundur, Harris, Tamara B., Heckbert, Susan R., Howson, Joanna M. M., Ingelsson, Martin, Kathiresan, Sekar, Kee, Frank, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J., Lindgren, Cecilia M., Männistö, Satu, Meitinger, Thomas, Melander, Olle, Mohlke, Karen L., Moitry, Marie, Morris, Andrew D., Murray, Alison D., de Mutsert, Renée, Orho-Melander, Marju, Owen, Katharine R., Perola, Markus, Peters, Annette, Province, Michael A., Rasheed, Asif, Ridker, Paul M., Rivadineira, Fernando, Rosendaal, Frits R., Rosengren, Anders H., Salomaa, Veikko, Sheu, Wayne H.-H., Sladek, Rob, Smith, Blair H., Strauch, Konstantin, Uitterlinden, André G., Varma, Rohit, Willer, Cristen J., Blüher, Matthias, Butterworth, Adam S., Chambers, John Campbell, Chasman, Daniel I., Danesh, John, van Duijn, Cornelia, Dupuis, Josée, Franco, Oscar H., Franks, Paul W., Froguel, Philippe, Grallert, Harald, Groop, Leif, Han, Bok-Ghee, Hansen, Torben, Hattersley, Andrew T., Hayward, Caroline, Ingelsson, Erik, Kardia, Sharon L. R., Karpe, Fredrik, Kooner, Jaspal Singh, Köttgen, Anna, Kuulasmaa, Kari, Laakso, Markku, Lin, Xu, Lind, Lars, Liu, Yongmei, Loos, Ruth J. F., Marchini, Jonathan, Metspalu, Andres, Mook-Kanamori, Dennis, Nordestgaard, Børge G., Palmer, Colin N. A., Pankow, James S., Pedersen, Oluf, Psaty, Bruce M., Rauramaa, Rainer, Sattar, Naveed, Schulze, Matthias B., Soranzo, Nicole, Spector, Timothy D., Stefansson, Kari, Stumvoll, Michael, Thorsteinsdottir, Unnur, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Wareham, Nicholas J., Wilson, James G., Zeggini, Eleftheria, Scott, Robert A., Barroso, Inês, Frayling, Timothy M., Goodarzi, Mark O., Meigs, James B., Boehnke, Michael, Saleheen, Danish, Morris, Andrew P., Rotter, Jerome I., and McCarthy, Mark I.
Abstract: We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P< 2.2 × 10−7); of these, 16 map outside known risk-associated loci. We make two important observations. First, only five of these signals are driven by low-frequency variants: even for these, effect sizes are modest (odds ratio ≤1.29). Second, when we used large-scale genome-wide association data to fine-map the associated variants in their regional context, accounting for the global enrichment of complex trait associations in coding sequence, compelling evidence for coding variant causality was obtained for only 16 signals. At 13 others, the associated coding variants clearly represent ‘false leads’ with potential to generate erroneous mechanistic inference. Coding variant associations offer a direct route to biological insight for complex diseases and identification of validated therapeutic targets; however, appropriate mechanistic inference requires careful specification of their causal contribution to disease predisposition.
Published: 2018
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22. Seasonality, morningness-eveningness, and sleep in common non - communicable medical conditions and chronic diseases in a population

Author: Basnet, Syaron, Merikanto, Ilona, Lahti, Tuuli, Männistö, Satu, Laatikainen, Tiina, Vartiainen, Erkki, and Partonen, Timo
Published: 2018
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23. Food and nutrient intakes in young adults born preterm

Author: Matinolli, Hanna-Maria, Männistö, Satu, Sipola-Leppänen, Marika, Tikanmäki, Marjaana, Heinonen, Kati, Eriksson, Johan G, Wolke, Dieter, Lano, Aulikki, Järvelin, Marjo-Riitta, Vääräsmäki, Marja, Räikkönen, Katri, and Kajantie, Eero
Abstract: BackgroundAdults born preterm have higher levels of cardiometabolic risk factors than their term-born peers. Studies have suggested that at least those born smallest eat less healthily. We examined the association between early (<34 weeks) and late (34–36 weeks) preterm birth and diet and food preferences in adult age.MethodsParticipants of two cohort studies located in Finland completed a validated food frequency questionnaire (FFQ) at the age of 24 years to assess their usual diet and the adherence to healthy eating guidelines by using a recommended diet index (RDI). Overall, 182 were born early preterm, 352 late preterm, and 631 were term-born controls.ResultsYoung women born early preterm scored 0.77 points (95% confidence interval (CI) 0.03, 1.51) lower in RDI when adjusted for sex, age, parental education, and early-life confounders, indicating a lower quality of diet. There were no differences between young women born late preterm and controls or among men. When food groups were assessed separately, men born early preterm had lower consumption of fruits and berries than controls.ConclusionsYoung women born early preterm have poorer adherence to the healthy eating guidelines than their peers born at term. Differences in diet may contribute to an increased cardiometabolic risk among adults born early preterm.
Published: 2018
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24. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
Abstract: Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4Rand KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4Rmutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
Published: 2018
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25. An interaction map of circulating metabolites, immune gene networks, and their genetic regulation

Author: Nath, Artika, Ritchie, Scott, Byars, Sean, Fearnley, Liam, Havulinna, Aki, Joensuu, Anni, Kangas, Antti, Soininen, Pasi, Wennerström, Annika, Milani, Lili, Metspalu, Andres, Männistö, Satu, Würtz, Peter, Kettunen, Johannes, Raitoharju, Emma, Kähönen, Mika, Juonala, Markus, Palotie, Aarno, Ala-Korpela, Mika, Ripatti, Samuli, Lehtimäki, Terho, Abraham, Gad, Raitakari, Olli, Salomaa, Veikko, Perola, Markus, and Inouye, Michael
Abstract: Immunometabolism plays a central role in many cardiometabolic diseases. However, a robust map of immune-related gene networks in circulating human cells, their interactions with metabolites, and their genetic control is still lacking. Here, we integrate blood transcriptomic, metabolomic, and genomic profiles from two population-based cohorts (total N = 2168), including a subset of individuals with matched multi-omic data at 7-year follow-up. We identify topologically replicable gene networks enriched for diverse immune functions including cytotoxicity, viral response, B cell, platelet, neutrophil, and mast cell/basophil activity. These immune gene modules show complex patterns of association with 158 circulating metabolites, including lipoprotein subclasses, lipids, fatty acids, amino acids, small molecules, and CRP. Genome-wide scans for module expression quantitative trait loci (mQTLs) reveal five modules with mQTLs that have both cisand transeffects. The strongest mQTL is in ARHGEF3(rs1354034) and affects a module enriched for platelet function, independent of platelet counts. Modules of mast cell/basophil and neutrophil function show temporally stable metabolite associations over 7-year follow-up, providing evidence that these modules and their constituent gene products may play central roles in metabolic inflammation. Furthermore, the strongest mQTL in ARHGEF3also displays clear temporal stability, supporting widespread transeffects at this locus. This study provides a detailed map of natural variation at the blood immunometabolic interface and its genetic basis, and may facilitate subsequent studies to explain inter-individual variation in cardiometabolic disease.
Published: 2017
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26. Genetic invalidation of Lp-PLA2as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

Author: Gregson, John M, Freitag, Daniel F, Surendran, Praveen, Stitziel, Nathan O, Chowdhury, Rajiv, Burgess, Stephen, Kaptoge, Stephen, Gao, Pei, Staley, James R, Willeit, Peter, Nielsen, Sune F, Caslake, Muriel, Trompet, Stella, Polfus, Linda M, Kuulasmaa, Kari, Kontto, Jukka, Perola, Markus, Blankenberg, Stefan, Veronesi, Giovanni, Gianfagna, Francesco, Männistö, Satu, Kimura, Akinori, Lin, Honghuang, Reilly, Dermot F, Gorski, Mathias, Mijatovic, Vladan, Munroe, Patricia B, Ehret, Georg B, Thompson, Alex, Uria-Nickelsen, Maria, Malarstig, Anders, Dehghan, Abbas, Vogt, Thomas F, Sasaoka, Taishi, Takeuchi, Fumihiko, Kato, Norihiro, Yamada, Yoshiji, Kee, Frank, Müller-Nurasyid, Martina, Ferrières, Jean, Arveiler, Dominique, Amouyel, Philippe, Salomaa, Veikko, Boerwinkle, Eric, Thompson, Simon G, Ford, Ian, Wouter Jukema, J, Sattar, Naveed, Packard, Chris J, Shafi Majumder, Abdulla al, Alam, Dewan S, Deloukas, Panos, Schunkert, Heribert, Samani, Nilesh J, Kathiresan, Sekar, Nordestgaard, Børge G, Saleheen, Danish, Howson, Joanna MM, Di Angelantonio, Emanuele, Butterworth, Adam S, and Danesh, John
Abstract: Aims Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2(Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2enzyme activity is causally relevant to coronary heart disease.Methods In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7,the gene encoding Lp-PLA2. We supplemented de-novo genotyping with information on a further 45,823 coronary heart disease patients and 88,680 controls in publicly available databases and other previous studies. We conducted a systematic review of randomized trials to compare effects of darapladib treatment on soluble Lp-PLA2activity, conventional cardiovascular risk factors, and coronary heart disease risk with corresponding effects of Lp-PLA2-lowering alleles.Results Lp-PLA2activity was decreased by 64% (p= 2.4 × 10–25) with carriage of any of the four loss-of-function variants, by 45% (p< 10–300) for every allele inherited at Val279Phe, and by 2.7% (p= 1.9 × 10–12) for every allele inherited at Val379Ala. Darapladib 160 mg once-daily reduced Lp-PLA2activity by 65% (p< 10–300). Causal risk ratios for coronary heart disease per 65% lower Lp-PLA2activity were: 0.95 (0.88–1.03) with Val279Phe; 0.92 (0.74–1.16) with carriage of any loss-of-function variant; 1.01 (0.68–1.51) with Val379Ala; and 0.95 (0.89–1.02) with darapladib treatment.Conclusions In a large-scale human genetic study, none of a series of Lp-PLA2-lowering alleles was related to coronary heart disease risk, suggesting that Lp-PLA2is unlikely to be a causal risk factor.
Published: 2017
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27. Rare and low-frequency coding variants alter human adult height

Author: Marouli, Eirini, Graff, Mariaelisa, Medina-Gomez, Carolina, Lo, Ken Sin, Wood, Andrew R., Kjaer, Troels R., Fine, Rebecca S., Lu, Yingchang, Schurmann, Claudia, Highland, Heather M., Rüeger, Sina, Thorleifsson, Gudmar, Justice, Anne E., Lamparter, David, Stirrups, Kathleen E., Turcot, Valérie, Young, Kristin L., Winkler, Thomas W., Esko, Tõnu, Karaderi, Tugce, Locke, Adam E., Masca, Nicholas G. D., Ng, Maggie C. Y., Mudgal, Poorva, Rivas, Manuel A., Vedantam, Sailaja, Mahajan, Anubha, Guo, Xiuqing, Abecasis, Goncalo, Aben, Katja K., Adair, Linda S., Alam, Dewan S., Albrecht, Eva, Allin, Kristine H., Allison, Matthew, Amouyel, Philippe, Appel, Emil V., Arveiler, Dominique, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Banas, Bernhard, Bang, Lia E., Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bonnycastle, Lori L., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Burt, Amber A., Butterworth, Adam S., Carey, David J., Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Galbany, Jordi Corominas, Cox, Amanda J., Cuellar-Partida, Gabriel, Danesh, John, Davies, Gail, de Bakker, Paul I. W., de Borst, Gert J., de Denus, Simon, de Groot, Mark C. H., de Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., den Hollander, Anneke I., Dennis, Joe G., Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dunning, Alison M., Easton, Douglas F., Ebeling, Tapani, Edwards, Todd L., Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Faul, Jessica D., Feitosa, Mary F., Feng, Shuang, Ferrannini, Ele, Ferrario, Marco M., Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franks, Paul W., Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Giri, Ayush, Girotto, Giorgia, Gordon, Scott D., Gordon-Larsen, Penny, Gorski, Mathias, Grarup, Niels, Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Hayward, Caroline, He, Liang, Heid, Iris M., Heikkilä, Kauko, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Hocking, Lynne J., Hollensted, Mette, Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hoyng, Carel B., Huang, Paul L., Hveem, Kristian, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jhun, Min A., Jia, Yucheng, Jiang, Xuejuan, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jousilahti, Pekka, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kee, Frank, Keeman, Renske, Kiemeney, Lambertus A., Kitajima, Hidetoshi, Kluivers, Kirsten B., Kocher, Thomas, Komulainen, Pirjo, Kontto, Jukka, Kooner, Jaspal S., Kooperberg, Charles, Kovacs, Peter, Kriebel, Jennifer, Kuivaniemi, Helena, Küry, Sébastien, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lakka, Timo A., Lange, Ethan M., Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Larson, Eric B., Lee, I-Te, Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Yeheng, Liu, Yongmei, Lophatananon, Artitaya, Luan, Jian'an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Mackey, David A., Madden, Pamela A. F., Manning, Alisa K., Männistö, Satu, Marenne, Gaëlle, Marten, Jonathan, Martin, Nicholas G., Mazul, Angela L., Meidtner, Karina, Metspalu, Andres, Mitchell, Paul, Mohlke, Karen L., Mook-Kanamori, Dennis O., Morgan, Anna, Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Ntalla, Ioanna, O'Connel, Jeffrey R., Oksa, Heikki, Loohuis, Loes M. Olde, Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Person, Thomas N., Pirie, Ailith, Polasek, Ozren, Posthuma, Danielle, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Ridker, Paul M., Rioux, John D., Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sandow, Kevin, Sapkota, Yadav, Sattar, Naveed, Schmidt, Marjanka K., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati, Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert Vernon, Smith, Jennifer A., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Steinthorsdottir, Valgerdur, Stringham, Heather M., Stumvoll, Michael, Surendran, Praveen, ‘t Hart, Leen M., Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Ulivi, Sheila, van der Laan, Sander W., Van Der Leij, Andries R., van Duijn, Cornelia M., van Schoor, Natasja M., van Setten, Jessica, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Edwards, Digna R. Velez, Vermeulen, Sita H., Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Vozzi, Diego, Walker, Mark, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Wareham, Nicholas J., Warren, Helen R., Wessel, Jennifer, Willems, Sara M., Wilson, James G., Witte, Daniel R., Woods, Michael O., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhao, Wei, Zheng, He, Zhou, Wei, Rotter, Jerome I, Boehnke, Michael, Kathiresan, Sekar, McCarthy, Mark I., Willer, Cristen J., Stefansson, Kari, Borecki, Ingrid B., Liu, Dajiang J., North, Kari E., Heard-Costa, Nancy L., Pers, Tune H., Lindgren, Cecilia M., Oxvig, Claus, Kutalik, Zoltán, Rivadeneira, Fernando, Loos, Ruth J. F., Frayling, Timothy M., Hirschhorn, Joel N., Deloukas, Panos, and Lettre, Guillaume
Abstract: Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1–4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, ARand CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2(giving an increase of 1–2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RAand NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
Published: 2017
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28. Genome-wide interaction analysis of folate for colorectal cancer risk

Author: Bouras, Emmanouil, Kim, Andre E., Lin, Yi, Morrison, John, Du, Mengmeng, Albanes, Demetrius, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, Timothy D., Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Conti, David V., Cotterchio, Michelle, Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Joshi, Amit D., Kawaguchi, Eric S., Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Mahesworo, Bharuno, Männistö, Satu, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Obón-Santacana, Mireia, Ose, Jennifer, Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Qi, Lihong, Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Schmit, Stephanie L., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thomas, Duncan C., Tian, Yu, Um, Caroline Y., van Duijnhoven, Franzel JB., Van Guelpen, Bethany, Visvanathan, Kala, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael O., Ulrich, Cornelia M., Hsu, Li, Gauderman, W James, Peters, Ulrike, and Tsilidis, Konstantinos K.
Abstract: Epidemiological and experimental evidence suggests that higher folate intake is associated with decreased colorectal cancer (CRC) risk; however, the mechanisms underlying this relationship are not fully understood. Genetic variation that may have a direct or indirect impact on folate metabolism can provide insights into folate’s role in CRC.
Published: 2023
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29. Dietary Quality and Circulating Lipidomic Profiles in 2 Cohorts of Middle-Aged and Older Male Finnish Smokers and American Populations

Author: Zhang, Ting, Naudin, Sabine, Hong, Hyokyoung G., Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie J., Moore, Steven C., and Stolzenberg-Solomon, Rachael Z.
Abstract: Higher dietary quality is associated with lower disease risks and has not been examined extensively with lipidomic profiles.
Published: 2023
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30. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

Author: Surendran, Praveen, Drenos, Fotios, Young, Robin, Warren, Helen, Cook, James P, Manning, Alisa K, Grarup, Niels, Sim, Xueling, Barnes, Daniel R, Witkowska, Kate, Staley, James R, Tragante, Vinicius, Tukiainen, Taru, Yaghootkar, Hanieh, Masca, Nicholas, Freitag, Daniel F, Ferreira, Teresa, Giannakopoulou, Olga, Tinker, Andrew, Harakalova, Magdalena, Mihailov, Evelin, Liu, Chunyu, Kraja, Aldi T, Nielsen, Sune Fallgaard, Rasheed, Asif, Samuel, Maria, Zhao, Wei, Bonnycastle, Lori L, Jackson, Anne U, Narisu, Narisu, Swift, Amy J, Southam, Lorraine, Marten, Jonathan, Huyghe, Jeroen R, Stančáková, Alena, Fava, Cristiano, Ohlsson, Therese, Matchan, Angela, Stirrups, Kathleen E, Bork-Jensen, Jette, Gjesing, Anette P, Kontto, Jukka, Perola, Markus, Shaw-Hawkins, Susan, Havulinna, Aki S, Zhang, He, Donnelly, Louise A, Groves, Christopher J, Rayner, N William, Neville, Matt J, Robertson, Neil R, Yiorkas, Andrianos M, Herzig, Karl-Heinz, Kajantie, Eero, Zhang, Weihua, Willems, Sara M, Lannfelt, Lars, Malerba, Giovanni, Soranzo, Nicole, Trabetti, Elisabetta, Verweij, Niek, Evangelou, Evangelos, Moayyeri, Alireza, Vergnaud, Anne-Claire, Nelson, Christopher P, Poveda, Alaitz, Varga, Tibor V, Caslake, Muriel, de Craen, Anton J M, Trompet, Stella, Luan, Jian’an, Scott, Robert A, Harris, Sarah E, Liewald, David C M, Marioni, Riccardo, Menni, Cristina, Farmaki, Aliki-Eleni, Hallmans, Göran, Renström, Frida, Huffman, Jennifer E, Hassinen, Maija, Burgess, Stephen, Vasan, Ramachandran S, Felix, Janine F, Uria-Nickelsen, Maria, Malarstig, Anders, Reilly, Dermot F, Hoek, Maarten, Vogt, Thomas F, Lin, Honghuang, Lieb, Wolfgang, Traylor, Matthew, Markus, Hugh S, Highland, Heather M, Justice, Anne E, Marouli, Eirini, Lindström, Jaana, Uusitupa, Matti, Komulainen, Pirjo, Lakka, Timo A, Rauramaa, Rainer, Polasek, Ozren, Rudan, Igor, Rolandsson, Olov, Franks, Paul W, Dedoussis, George, Spector, Timothy D, Jousilahti, Pekka, Männistö, Satu, Deary, Ian J, Starr, John M, Langenberg, Claudia, Wareham, Nick J, Brown, Morris J, Dominiczak, Anna F, Connell, John M, Jukema, J Wouter, Sattar, Naveed, Ford, Ian, Packard, Chris J, Esko, Tõnu, Mägi, Reedik, Metspalu, Andres, de Boer, Rudolf A, van der Meer, Peter, van der Harst, Pim, Gambaro, Giovanni, Ingelsson, Erik, Lind, Lars, de Bakker, Paul I W, Numans, Mattijs E, Brandslund, Ivan, Christensen, Cramer, Petersen, Eva R B, Korpi-Hyövälti, Eeva, Oksa, Heikki, Chambers, John C, Kooner, Jaspal S, Blakemore, Alexandra I F, Franks, Steve, Jarvelin, Marjo-Riitta, Husemoen, Lise L, Linneberg, Allan, Skaaby, Tea, Thuesen, Betina, Karpe, Fredrik, Tuomilehto, Jaakko, Doney, Alex S F, Morris, Andrew D, Palmer, Colin N A, Holmen, Oddgeir Lingaas, Hveem, Kristian, Willer, Cristen J, Tuomi, Tiinamaija, Groop, Leif, Käräjämäki, AnneMari, Palotie, Aarno, Ripatti, Samuli, Salomaa, Veikko, Alam, Dewan S, Majumder, Abdulla al Shafi, Di Angelantonio, Emanuele, Chowdhury, Rajiv, McCarthy, Mark I, Poulter, Neil, Stanton, Alice V, Sever, Peter, Amouyel, Philippe, Arveiler, Dominique, Blankenberg, Stefan, Ferrières, Jean, Kee, Frank, Kuulasmaa, Kari, Müller-Nurasyid, Martina, Veronesi, Giovanni, Virtamo, Jarmo, Deloukas, Panos, Elliott, Paul, Zeggini, Eleftheria, Kathiresan, Sekar, Melander, Olle, Kuusisto, Johanna, Laakso, Markku, Padmanabhan, Sandosh, Porteous, David J, Hayward, Caroline, Scotland, Generation, Collins, Francis S, Mohlke, Karen L, Hansen, Torben, Pedersen, Oluf, Boehnke, Michael, Stringham, Heather M, Frossard, Philippe, Newton-Cheh, Christopher, Tobin, Martin D, Nordestgaard, Børge Grønne, Caulfield, Mark J, Mahajan, Anubha, Morris, Andrew P, Tomaszewski, Maciej, Samani, Nilesh J, Saleheen, Danish, Asselbergs, Folkert W, Lindgren, Cecilia M, Danesh, John, Wain, Louise V, Butterworth, Adam S, Howson, Joanna M M, and Munroe, Patricia B
Abstract: High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used ∼155,063 samples for independent replication. We identified 30 new blood pressure– or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
Published: 2016
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31. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Author: Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher, and Munroe, Patricia B
Abstract: To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure–associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure–related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.
Published: 2016
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32. Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome

Author: Sinisalo, Juha, Vlachopoulou, Efthymia, Marchesani, Marja, Nokelainen, Johanna, Mäyränpää, Mikko I., Lappalainen, Jani, Paakkanen, Riitta, Wennerström, Annika, Salli, Krista, Niemi, Heikki J., Männistö, Satu, Salo, Perttu, Junttila, Juhani, Eskola, Markku, Nikus, Kjell, Arstila, T. Petteri, Perola, Markus, Huikuri, Heikki, Karhunen, Pekka J., Kovanen, Petri T., Palotie, Aarno, Havulinna, Aki S., Lluis-Ganella, Carla, Marrugat, Jaume, Elosua, Roberto, Salomaa, Veikko, Nieminen, Markku S., and Lokki, Marja-Liisa
Abstract: Supplemental Digital Content is available in the text.
Published: 2016
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33. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Author: Gaulton, Kyle J, Ferreira, Teresa, Lee, Yeji, Raimondo, Anne, Mägi, Reedik, Reschen, Michael E, Mahajan, Anubha, Locke, Adam, William Rayner, N, Robertson, Neil, Scott, Robert A, Prokopenko, Inga, Scott, Laura J, Green, Todd, Sparso, Thomas, Thuillier, Dorothee, Yengo, Loic, Grallert, Harald, Wahl, Simone, Frånberg, Mattias, Strawbridge, Rona J, Kestler, Hans, Chheda, Himanshu, Eisele, Lewin, Gustafsson, Stefan, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Qi, Lu, Karssen, Lennart C, van Leeuwen, Elisabeth M, Willems, Sara M, Li, Man, Chen, Han, Fuchsberger, Christian, Kwan, Phoenix, Ma, Clement, Linderman, Michael, Lu, Yingchang, Thomsen, Soren K, Rundle, Jana K, Beer, Nicola L, van de Bunt, Martijn, Chalisey, Anil, Kang, Hyun Min, Voight, Benjamin F, Abecasis, Gonçalo R, Almgren, Peter, Baldassarre, Damiano, Balkau, Beverley, Benediktsson, Rafn, Blüher, Matthias, Boeing, Heiner, Bonnycastle, Lori L, Bottinger, Erwin P, Burtt, Noël P, Carey, Jason, Charpentier, Guillaume, Chines, Peter S, Cornelis, Marilyn C, Couper, David J, Crenshaw, Andrew T, van Dam, Rob M, Doney, Alex S F, Dorkhan, Mozhgan, Edkins, Sarah, Eriksson, Johan G, Esko, Tonu, Eury, Elodie, Fadista, João, Flannick, Jason, Fontanillas, Pierre, Fox, Caroline, Franks, Paul W, Gertow, Karl, Gieger, Christian, Gigante, Bruna, Gottesman, Omri, Grant, George B, Grarup, Niels, Groves, Christopher J, Hassinen, Maija, Have, Christian T, Herder, Christian, Holmen, Oddgeir L, Hreidarsson, Astradur B, Humphries, Steve E, Hunter, David J, Jackson, Anne U, Jonsson, Anna, Jørgensen, Marit E, Jørgensen, Torben, Kao, Wen-Hong L, Kerrison, Nicola D, Kinnunen, Leena, Klopp, Norman, Kong, Augustine, Kovacs, Peter, Kraft, Peter, Kravic, Jasmina, Langford, Cordelia, Leander, Karin, Liang, Liming, Lichtner, Peter, Lindgren, Cecilia M, Lindholm, Eero, Linneberg, Allan, Liu, Ching-Ti, Lobbens, Stéphane, Luan, Jian'an, Lyssenko, Valeriya, Männistö, Satu, McLeod, Olga, Meyer, Julia, Mihailov, Evelin, Mirza, Ghazala, Mühleisen, Thomas W, Müller-Nurasyid, Martina, Navarro, Carmen, Nöthen, Markus M, Oskolkov, Nikolay N, Owen, Katharine R, Palli, Domenico, Pechlivanis, Sonali, Peltonen, Leena, Perry, John R B, Platou, Carl G P, Roden, Michael, Ruderfer, Douglas, Rybin, Denis, van der Schouw, Yvonne T, Sennblad, Bengt, Sigurðsson, Gunnar, Stančáková, Alena, Steinbach, Gerald, Storm, Petter, Strauch, Konstantin, Stringham, Heather M, Sun, Qi, Thorand, Barbara, Tikkanen, Emmi, Tonjes, Anke, Trakalo, Joseph, Tremoli, Elena, Tuomi, Tiinamaija, Wennauer, Roman, Wiltshire, Steven, Wood, Andrew R, Zeggini, Eleftheria, Dunham, Ian, Birney, Ewan, Pasquali, Lorenzo, Ferrer, Jorge, Loos, Ruth J F, Dupuis, Josée, Florez, Jose C, Boerwinkle, Eric, Pankow, James S, van Duijn, Cornelia, Sijbrands, Eric, Meigs, James B, Hu, Frank B, Thorsteinsdottir, Unnur, Stefansson, Kari, Lakka, Timo A, Rauramaa, Rainer, Stumvoll, Michael, Pedersen, Nancy L, Lind, Lars, Keinanen-Kiukaanniemi, Sirkka M, Korpi-Hyövälti, Eeva, Saaristo, Timo E, Saltevo, Juha, Kuusisto, Johanna, Laakso, Markku, Metspalu, Andres, Erbel, Raimund, Jöcke, Karl-Heinz, Moebus, Susanne, Ripatti, Samuli, Salomaa, Veikko, Ingelsson, Erik, Boehm, Bernhard O, Bergman, Richard N, Collins, Francis S, Mohlke, Karen L, Koistinen, Heikki, Tuomilehto, Jaakko, Hveem, Kristian, Njølstad, Inger, Deloukas, Panagiotis, Donnelly, Peter J, Frayling, Timothy M, Hattersley, Andrew T, de Faire, Ulf, Hamsten, Anders, Illig, Thomas, Peters, Annette, Cauchi, Stephane, Sladek, Rob, Froguel, Philippe, Hansen, Torben, Pedersen, Oluf, Morris, Andrew D, Palmer, Collin N A, Kathiresan, Sekar, Melander, Olle, Nilsson, Peter M, Groop, Leif C, Barroso, Inês, Langenberg, Claudia, Wareham, Nicholas J, O'Callaghan, Christopher A, Gloyn, Anna L, Altshuler, David, Boehnke, Michael, Teslovich, Tanya M, McCarthy, Mark I, and Morris, Andrew P
Abstract: We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
Published: 2015
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34. The Biomarker GlycA Is Associated with Chronic Inflammation and Predicts Long-Term Risk of Severe Infection

Author: Ritchie, Scott C., Würtz, Peter, Nath, Artika P., Abraham, Gad, Havulinna, Aki S., Fearnley, Liam G., Sarin, Antti-Pekka, Kangas, Antti J., Soininen, Pasi, Aalto, Kristiina, Seppälä, Ilkka, Raitoharju, Emma, Salmi, Marko, Maksimow, Mikael, Männistö, Satu, Kähönen, Mika, Juonala, Markus, Ripatti, Samuli, Lehtimäki, Terho, Jalkanen, Sirpa, Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Ala-Korpela, Mika, Kettunen, Johannes, and Inouye, Michael
Abstract: The biomarker glycoprotein acetylation (GlycA) has been shown to predict risk of cardiovascular disease and all-cause mortality. Here, we characterize biological processes associated with GlycA by leveraging population-based omics data and health records from >10,000 individuals. Our analyses show that GlycA levels are chronic within individuals for up to a decade. In apparently healthy individuals, elevated GlycA corresponded to elevation of myriad inflammatory cytokines, as well as a gene coexpression network indicative of increased neutrophil activity, suggesting that individuals with high GlycA may be in a state of chronic inflammatory response. Accordingly, analysis of infection-related hospitalization and death records showed that increased GlycA increased long-term risk of severe non-localized and respiratory infections, particularly septicaemia and pneumonia. In total, our work demonstrates that GlycA is a biomarker for chronic inflammation, neutrophil activity, and risk of future severe infection. It also illustrates the utility of leveraging multi-layered omics data and health records to elucidate the molecular and cellular processes associated with biomarkers.
Published: 2015
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35. Associations Between Serum 25‐Hydroxyvitamin D and Periodontal Pocketing and Gingival Bleeding: Results of a Study in a Non‐Smoking Population in Finland

Author: Antonoglou, Georgios N., Suominen, Anna Liisa, Knuuttila, Matti, Ylöstalo, Pekka, Ojala, Meeri, Männistö, Satu, Marniemi, Jukka, Lundqvist, Annamari, and Tervonen, Tellervo
Abstract: Background: Apart from the effects of vitamin D on bone metabolism, it is also known for its immunomodulatory properties. However, so far, it is not clear whether serum 25‐hydroxyvitamin D [25(OH)D] exerts any beneficial effect on the periodontium. The aim of the present study is to investigate whether the serum level of 25(OH)D is related to periodontal condition, measured by means of pocketing and gingival bleeding. Methods:This cross‐sectional study is based on a non‐smoking subpopulation without diabetes of the Finnish Health 2000 Survey (N = 1,262). Periodontal condition was measured as the number of teeth with deep (≥4 mm) periodontal pockets and the number of bleeding sextants per individual. Serum 25(OH)D level was determined by means of a standard laboratory measurement. Prevalence rate ratios and 95% confidence intervals were estimated using Poisson regression models. Results:There were practically no associations between serum 25(OH)D level and teeth with deep (≥4 mm) periodontal pockets or bleeding sextants. A somewhat lower proportion of teeth with deep periodontal pockets was found in higher serum 25(OH)D quintiles among individuals with a good oral hygiene level. Conclusion:Serum 25(OH)D did not seem to be related to periodontal condition, measured as periodontal pocketing and gingival bleeding in this low‐risk, low‐25(OH)D status population.
Published: 2015
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36. Serum 25-Hydroxyvitamin D Concentration and Risk of Dementia

Author: Knekt, Paul, Sääksjärvi, Katri, Järvinen, Ritva, Marniemi, Jukka, Männistö, Satu, Kanerva, Noora, and Heliövaara, Markku
Abstract: High vitamin D status has been hypothesized to protect against dementia. The aim of the current study was to investigate whether serum 25-hydroxyvitamin D (25(OH)D) level predicts dementia risk.
Published: 2014
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37. Koulutus ja tulot ruokavalion laadun selittäjinä Finravinto-tutkimuksissa 2002 ja 2007.

Author: OVASKAINEN, MARJA-LEENA, KOSOLA, MIKKO, and MÄNNISTÖ, SATU
Abstract: Copyright of Yhteiskuntapolitiikka is the property of University of Helsinki, Faculty of Political Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2013

38. Genome-Wide Screen for Metabolic Syndrome Susceptibility Loci Reveals Strong Lipid Gene Contribution But No Evidence for Common Genetic Basis for Clustering of Metabolic Syndrome Traits

Author: Kristiansson, Kati, Perola, Markus, Tikkanen, Emmi, Kettunen, Johannes, Surakka, Ida, Havulinna, Aki S., Stanáková, Alena, Barnes, Chris, Widen, Elisabeth, Kajantie, Eero, Eriksson, Johan G., Viikari, Jorma, Kähönen, Mika, Lehtimäki, Terho, Raitakari, Olli T., Hartikainen, Anna-Liisa, Ruokonen, Aimo, Pouta, Anneli, Jula, Antti, Kangas, Antti J., Soininen, Pasi, Ala-Korpela, Mika, Männistö, Satu, Jousilahti, Pekka, Bonnycastle, Lori L., Järvelin, Marjo-Riitta, Kuusisto, Johanna, Collins, Francis S., Laakso, Markku, Hurles, Matthew E., Palotie, Aarno, Peltonen, Leena, Ripatti, Samuli, and Salomaa, Veikko
Abstract: Genome-wide association (GWA) studies have identified several susceptibility loci for metabolic syndrome (MetS) component traits, but have had variable success in identifying susceptibility loci to the syndrome as an entity. We conducted a GWA study on MetS and its component traits in 4 Finnish cohorts consisting of 2637 MetS cases and 7927 controls, both free of diabetes, and followed the top loci in an independent sample with transcriptome and nuclear magnetic resonance-based metabonomics data. Furthermore, we tested for loci associated with multiple MetS component traits using factor analysis, and built a genetic risk score for MetS.
Published: 2012
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39. Dairy Foods and Risk of Stroke

Author: Larsson, Susanna C., Männistö, Satu, Virtanen, Mikko J., Kontto, Jukka, Albanes, Demetrius, and Virtamo, Jarmo
Abstract: Consumption of milk and other dairy foods has been associated with reduced risk of stroke, although not all studies have shown this consistently.
Published: 2009
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40. Coffee and Tea Consumption and Risk of Stroke Subtypes in Male Smokers

Author: Larsson, Susanna C., Männistö, Satu, Virtanen, Mikko J., Kontto, Jukka, Albanes, Demetrius, and Virtamo, Jarmo
Abstract: Coffee and tea consumption could potentially reduce the risk of stroke because these beverages have antioxidant properties, and coffee may improve insulin sensitivity. We examined the associations of coffee and tea consumption with risk of stroke subtypes.
Published: 2008
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41. Dietary patterns and breast cancer risk: results from three cohort studies in the DIETSCAN project

Author: Männistö, Satu, Dixon, L. Beth, Balder, Helena F., Virtanen, Mikko J., Krogh, Vittorio, Khani, Bahram Rashid, Berrino, Franco, Brandt, Piet A. van den, Hartman, Anne M., Pietinen, Pirjo, Tan, Frans, Wolk, Alicja, and Goldbohm, R. Alexandra
Abstract: Abstract Objective: Only a few consistent findings on individual foods or nutrients that influence breast cancer risk have emerged thus far. Since people do not consume individual foods but certain combinations of them, the analysis of dietary patterns may offer an additional aspect for assessing associations between diet and diseases such as breast cancer. It is also important to examine whether the relationships between dietary patterns and breast cancer risk are consistent across populations.
Published: 2005
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42. Prevalence of Weight Cycling and its Relation to Health Indicators in Finland

Author: Lahti‐Koski, Marjaana, Männistö, Satu, Pietinen, Pirjo, and Vartiainen, Erkki
Abstract: Objective: This study was performed to identify weight cyclers and to assess the prevalence of weight cycling and its relation to health indicators in Finnish adults. Research Methods and Procedures: Data for the study consisted of 3320 men and 3540 women (25 to 64 years of age). The subjects went through a health examination, and data on intentional weight losses and regains during the last 10 years were collected by a questionnaire. The subjects were divided into five groups: severe weight cyclers (weight loss ≥ 5 kg at least three times with regain), mild weight cyclers (weight loss ≥ 5 kg one to two times and regain), successful dieters (weight loss ≥ 5 kg with no regain), nonobese nondieters, and obese nondieters. Results: Approximately 7% of men and 10% of women were defined as severe weight cyclers, and an additional 11% and 19% were defined as mild weight cyclers, respectively. In men, 20% of severe weight cyclers and 15% of obese nondieters perceived their health as poor, whereas in other groups, these proportions were <10%. In both sexes, severe weight cyclers seemed to have visited a doctor more frequently than nonobese nondieters. Severe weight cyclers were also more likely to use some medication compared with other groups. Discussion: Weight cycling is more common in women than in men, and it seems to be associated with more regular visits to a doctor and poor self‐perceived health. However, because of the cross‐sectional design of the study, causal conclusions cannot be drawn.
Published: 2005
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43. Vitamin E concentration in breast adipose tissue of breast cancer patients (Kuopio, Finland)

Author: Zhu, Zhenrong, Parviainen, Markku, Männistö, Satu, Pietinen, Pirjo, Eskelinen, Matti, Syrjänen, Kari, and Uusitupa, Matti
Abstract: Previous data on animals and humans suggest that vitamin E may be a protective factor against cancer. A low dietary vitamin E intake has been suggested to increase the risk of breast cancer. We examined the dietary intake and the concentration of vitamin E in breast adipose tissue of women in Kuopio, Finland, diagnosed between 1990 and 1992 with benign breast disease (n=34) and with breast cancer (n=32). In postmenopausal women, lower dietary intake (P=0.006) and a smaller concentration of vitamin E in breast adipose tissue (P=0.024) were observed in breast cancer patients than in subjects with benign breast disease. Partial correlation showed that the vitamin E concentration in the breast adipose tissue correlated positively with the dietary intake of vitamin E (r=0.25, P=0.023), indicating that the vitamin E concentration in breast adipose tissue reflects the dietary intake of vitamin E.
Published: 1996
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44. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather, Schurmann, Claudia, Justice, Anne, Fine, Rebecca, Bradfield, Jonathan, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin, Alfred, Tamuno, Feitosa, Mary, Masca, Nicholas, Manning, Alisa, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie, Reiner, Alex, Vedantam, Sailaja, Willems, Sara, Winkler, Thomas, Abecasis, Gonçalo, Aben, Katja, Alam, Dewan, Alharthi, Sameer, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert, Auer, Paul, Balkau, Beverley, Bang, Lia, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten, Bork-Jensen, Jette, Bots, Michiel, Bottinger, Erwin, Bowden, Donald, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray, Broer, Linda, Brumat, Marco, Burt, Amber, Butterworth, Adam, Campbell, Peter, Cappellani, Stefania, Carey, David, Catamo, Eulalia, Caulfield, Mark, Chambers, John, Chasman, Daniel, Chen, Yii-Der, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey, Cocca, Massimiliano, Collins, Francis, Cook, James, Corley, Janie, Galbany, Jordi, Cox, Amanda, Crosslin, David, Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul, Groot, Mark, Mutsert, Renée, Deary, Ian, Dedoussis, George, Demerath, Ellen, Heijer, Martin, Hollander, Anneke, Ruijter, Hester, Dennis, Joe, Denny, Josh, Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison, Easton, Douglas, Edwards, Todd, Ellinghaus, David, Ellinor, Patrick, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I., Faul, Jessica, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose, Ford, Ian, Fornage, Myriam, Franco, Oscar, Franke, Andre, Franks, Paul, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan, Grarup, Niels, Griffiths, Helen, Grove, Megan, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke, Hansen, Torben, Harris, Kathleen, Harris, Tamara, Hattersley, Andrew, Have, Christian, Hayward, Caroline, He, Liang, Heard-Costa, Nancy, Heath, Andrew, Heid, Iris, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex, Holmen, Oddgeir, Hovingh, G., Howson, Joanna, Hu, Yao, Huang, Paul, Huffman, Jennifer, Ikram, M., Ingelsson, Erik, Jackson, Anne, Jansson, Jan-Håkan, Jarvik, Gail, Jensen, Gorm, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit, Jørgensen, Torben, Jukema, J., Kahali, Bratati, Kahn, René, Kähönen, Mika, Kamstrup, Pia, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Lamparter, David, Lange, Ethan, Lange, Leslie, Langenberg, Claudia, Larson, Eric, Lee, Nanette, Lehtimäki, Terho, Lewis, Cora, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang, Liu, Yongmei, Lo, Ken, Lophatananon, Artitaya, Lotery, Andrew, Loukola, Anu, Luan, Jian’an, Lubitz, Steven, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela, McCarthy, Mark, McKean-Cowdin, Roberta, Medland, Sarah, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen, Moilanen, Leena, Moitry, Marie, Montgomery, Grant, Mook-Kanamori, Dennis, Moore, Carmel, Mori, Trevor, Morris, Andrew, Morris, Andrew, Müller-Nurasyid, Martina, Munroe, Patricia, Nalls, Mike, Narisu, Narisu, Nelson, Christopher, Neville, Matt, Nielsen, Sune, Nikus, Kjell, Njølstad, Pål, Nordestgaard, Børge, Nyholt, Dale, O’Connel, Jeffrey, O’Donoghue, Michelle, Loohuis, Loes, Ophoff, Roel, Owen, Katharine, Packard, Chris, Padmanabhan, Sandosh, Palmer, Colin, Palmer, Nicholette, Pasterkamp, Gerard, Patel, Aniruddh, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy, Peloso, Gina, Pennell, Craig, Perola, Markus, Perry, James, Perry, John, Pers, Tune, Person, Thomas, Peters, Annette, Petersen, Eva, Peyser, Patricia, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca, Puolijoki, Hannu, Raitakari, Olli, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot, Renström, Frida, Rheinberger, Myriam, Ridker, Paul, Rioux, John, Rivas, Manuel, Roberts, David, Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert, Schreiner, Pamela, Schulze, Matthias, Scott, Robert, Segura-Lepe, Marcelo, Shah, Svati, Sheu, Wayne, Sim, Xueling, Slater, Andrew, Small, Kerrin, Smith, Albert, Southam, Lorraine, Spector, Timothy, Speliotes, Elizabeth, Starr, John, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Strauch, Konstantin, Stringham, Heather, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy, Tada, Hayato, Tansey, Katherine, Tardif, Jean-Claude, Taylor, Kent, Teumer, Alexander, Thompson, Deborah, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan, Uher, Rudolf, Uitterlinden, André, Uusitupa, Matti, Laan, Sander, Duijn, Cornelia, Leeuwen, Nienke, Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor, Varma, Rohit, Edwards, Digna, Vermeulen, Sita, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol, Wang, Shuai, Wang, Yiqin, Ware, Erin, Wareham, Nicholas, Warren, Helen, Waterworth, Dawn, Wessel, Jennifer, White, Harvey, Willer, Cristen, Wilson, James, Witte, Daniel, Wood, Andrew, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina, Rotter, Jerome, Pospisilik, John, Rivadeneira, Fernando, Borecki, Ingrid, Deloukas, Panos, Frayling, Timothy, Lettre, Guillaume, North, Kari, Lindgren, Cecilia, Hirschhorn, Joel, and Loos, Ruth
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2019
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45. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather, Schurmann, Claudia, Justice, Anne, Fine, Rebecca, Bradfield, Jonathan, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin, Alfred, Tamuno, Feitosa, Mary, Masca, Nicholas, Manning, Alisa, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie, Reiner, Alex, Vedantam, Sailaja, Willems, Sara, Winkler, Thomas, Abecasis, Gonçalo, Aben, Katja, Alam, Dewan, Alharthi, Sameer, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert, Auer, Paul, Balkau, Beverley, Bang, Lia, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten, Bork-Jensen, Jette, Bots, Michiel, Bottinger, Erwin, Bowden, Donald, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray, Broer, Linda, Brumat, Marco, Burt, Amber, Butterworth, Adam, Campbell, Peter, Cappellani, Stefania, Carey, David, Catamo, Eulalia, Caulfield, Mark, Chambers, John, Chasman, Daniel, Chen, Yii-Der, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey, Cocca, Massimiliano, Collins, Francis, Cook, James, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda, Crosslin, David, Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul, Groot, Mark, Mutsert, Renée, Deary, Ian, Dedoussis, George, Demerath, Ellen, Heijer, Martin, Hollander, Anneke, Ruijter, Hester, Dennis, Joe, Denny, Josh, Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison, Easton, Douglas, Edwards, Todd, Ellinghaus, David, Ellinor, Patrick, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I., Faul, Jessica, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose, Ford, Ian, Fornage, Myriam, Franco, Oscar, Franke, Andre, Franks, Paul, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan, Grarup, Niels, Griffiths, Helen, Grove, Megan, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke, Hansen, Torben, Harris, Kathleen, Harris, Tamara, Hattersley, Andrew, Have, Christian, Hayward, Caroline, He, Liang, Heard-Costa, Nancy, Heath, Andrew, Heid, Iris, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex, Holmen, Oddgeir, Hovingh, G., Howson, Joanna, Hu, Yao, Huang, Paul, Huffman, Jennifer, Ikram, M., Ingelsson, Erik, Jackson, Anne, Jansson, Jan-Håkan, Jarvik, Gail, Jensen, Gorm, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit, Jørgensen, Torben, Jukema, J., Kahali, Bratati, Kahn, René, Kähönen, Mika, Kamstrup, Pia, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Lamparter, David, Lange, Ethan, Lange, Leslie, Langenberg, Claudia, Larson, Eric, Lee, Nanette, Lehtimäki, Terho, Lewis, Cora, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang, Liu, Yongmei, Lo, Ken, Lophatananon, Artitaya, Lotery, Andrew, Loukola, Anu, Luan, Jian’an, Lubitz, Steven, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela, McCarthy, Mark, McKean-Cowdin, Roberta, Medland, Sarah, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen, Moilanen, Leena, Moitry, Marie, Montgomery, Grant, Mook-Kanamori, Dennis, Moore, Carmel, Mori, Trevor, Morris, Andrew, Morris, Andrew, Müller-Nurasyid, Martina, Munroe, Patricia, Nalls, Mike, Narisu, Narisu, Nelson, Christopher, Neville, Matt, Nielsen, Sune, Nikus, Kjell, Njølstad, Pål, Nordestgaard, Børge, Nyholt, Dale, O’Connel, Jeffrey, O’Donoghue, Michelle, Olde Loohuis, Loes, Ophoff, Roel, Owen, Katharine, Packard, Chris, Padmanabhan, Sandosh, Palmer, Colin, Palmer, Nicholette, Pasterkamp, Gerard, Patel, Aniruddh, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy, Peloso, Gina, Pennell, Craig, Perola, Markus, Perry, James, Perry, John, Pers, Tune, Person, Thomas, Peters, Annette, Petersen, Eva, Peyser, Patricia, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca, Puolijoki, Hannu, Raitakari, Olli, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot, Renström, Frida, Rheinberger, Myriam, Ridker, Paul, Rioux, John, Rivas, Manuel, Roberts, David, Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert, Schreiner, Pamela, Schulze, Matthias, Scott, Robert, Segura-Lepe, Marcelo, Shah, Svati, Sheu, Wayne, Sim, Xueling, Slater, Andrew, Small, Kerrin, Smith, Albert, Southam, Lorraine, Spector, Timothy, Speliotes, Elizabeth, Starr, John, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Strauch, Konstantin, Stringham, Heather, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy, Tada, Hayato, Tansey, Katherine, Tardif, Jean-Claude, Taylor, Kent, Teumer, Alexander, Thompson, Deborah, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan, Uher, Rudolf, Uitterlinden, André, Uusitupa, Matti, Laan, Sander, Duijn, Cornelia, Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor, Varma, Rohit, Velez Edwards, Digna, Vermeulen, Sita, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol, Wang, Shuai, Wang, Yiqin, Ware, Erin, Wareham, Nicholas, Warren, Helen, Waterworth, Dawn, Wessel, Jennifer, White, Harvey, Willer, Cristen, Wilson, James, Witte, Daniel, Wood, Andrew, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina, Rotter, Jerome, Pospisilik, John, Rivadeneira, Fernando, Borecki, Ingrid, Deloukas, Panos, Frayling, Timothy, Lettre, Guillaume, North, Kari, Lindgren, Cecilia, Hirschhorn, Joel, and Loos, Ruth
Abstract: In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.
Published: 2018
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46. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author: Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M., Winkler, Thomas W., Abecasis, Gonçalo, Aben, Katja K., Alam, Dewan S., Alharthi, Sameer E., Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W., Auer, Paul L., Balkau, Beverley, Bang, Lia E., Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F., Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A., Bork-Jensen, Jette, Bots, Michiel L., Bottinger, Erwin P., Bowden, Donald W., Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H., Broer, Linda, Brumat, Marco, Burt, Amber A., Butterworth, Adam S., Campbell, Peter T., Cappellani, Stefania, Carey, David J., Catamo, Eulalia, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Yii-Der I., Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Cocca, Massimiliano, Collins, Francis S., Cook, James P., Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J., Crosslin, David S., Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul I. W., Groot, Mark C. H., Mutsert, Renée, Deary, Ian J., Dedoussis, George, Demerath, Ellen W., Heijer, Martin, Hollander, Anneke I., Ruijter, Hester M., Dennis, Joe G., Denny, Josh C., Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M., Easton, Douglas F., Edwards, Todd L., Ellinghaus, David, Ellinor, Patrick T., Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I. Sadaf, Faul, Jessica D., Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C., Ford, Ian, Fornage, Myriam, Franco, Oscar H., Franke, Andre, Franks, Paul W., Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E., Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P., Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan F. A., Grarup, Niels, Griffiths, Helen L., Grove, Megan L., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R., Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B., Hattersley, Andrew T., Have, Christian T., Hayward, Caroline, He, Liang, Heard-Costa, Nancy L., Heath, Andrew C., Heid, Iris M., Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W., Holmen, Oddgeir L., Hovingh, G. Kees, Howson, Joanna M. M., Hu, Yao, Huang, Paul L., Huffman, Jennifer E., Ikram, M. Arfan, Ingelsson, Erik, Jackson, Anne U., Jansson, Jan-Håkan, Jarvik, Gail P., Jensen, Gorm B., Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E., Jørgensen, Torben, Jukema, J. Wouter, Kahali, Bratati, Kahn, René S., Kähönen, Mika, Kamstrup, Pia R., Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon L. R., Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A., Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S., Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A., Lamparter, David, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Larson, Eric B., Lee, Nanette R., Lehtimäki, Terho, Lewis, Cora E., Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J., Liu, Yongmei, Lo, Ken S., Lophatananon, Artitaya, Lotery, Andrew J., Loukola, Anu, Luan, Jian’an, Lubitz, Steven A., Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L., McCarthy, Mark I., McKean-Cowdin, Roberta, Medland, Sarah E., Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L., Moilanen, Leena, Moitry, Marie, Montgomery, Grant W., Mook-Kanamori, Dennis O., Moore, Carmel, Mori, Trevor A., Morris, Andrew D., Morris, Andrew P., Müller-Nurasyid, Martina, Munroe, Patricia B., Nalls, Mike A., Narisu, Narisu, Nelson, Christopher P., Neville, Matt, Nielsen, Sune F., Nikus, Kjell, Njølstad, Pål R., Nordestgaard, Børge G., Nyholt, Dale R., O’Connel, Jeffrey R., O’Donoghue, Michelle L., Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Katharine R., Packard, Chris J., Padmanabhan, Sandosh, Palmer, Colin N. A., Palmer, Nicholette D., Pasterkamp, Gerard, Patel, Aniruddh P., Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L., Peloso, Gina M., Pennell, Craig E., Perola, Markus, Perry, James A., Perry, John R. B., Pers, Tune H., Person, Thomas N., Peters, Annette, Petersen, Eva R. B., Peyser, Patricia A., Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J., Puolijoki, Hannu, Raitakari, Olli T., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Renström, Frida, Rheinberger, Myriam, Ridker, Paul M., Rioux, John D., Rivas, Manuel A., Roberts, David J., Robertson, Neil R., Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E., Schreiner, Pamela J., Schulze, Matthias B., Scott, Robert A., Segura-Lepe, Marcelo P., Shah, Svati H., Sheu, Wayne H.-H., Sim, Xueling, Slater, Andrew J., Small, Kerrin S., Smith, Albert V., Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J., Tada, Hayato, Tansey, Katherine E., Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thompson, Deborah J., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H., Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P., Uher, Rudolf, Uitterlinden, André G., Uusitupa, Matti, Laan, Sander W., Duijn, Cornelia M., Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V., Varma, Rohit, Velez Edwards, Digna R., Vermeulen, Sita H., Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F., Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E., Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A., Wang, Shuai, Wang, Yiqin, Ware, Erin B., Wareham, Nicholas J., Warren, Helen R., Waterworth, Dawn M., Wessel, Jennifer, White, Harvey D., Willer, Cristen J., Wilson, James G., Witte, Daniel R., Wood, Andrew R., Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M., Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, Rotter, Jerome I., Pospisilik, John A., Rivadeneira, Fernando, Borecki, Ingrid B., Deloukas, Panos, Frayling, Timothy M., Lettre, Guillaume, North, Kari E., Lindgren, Cecilia M., Hirschhorn, Joel N., and Loos, Ruth J. F.
Abstract: In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.
Published: 2018
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47. Biomarker Glycoprotein Acetyls Is Associated With the Risk of a Wide Spectrum of Incident Diseases and Stratifies Mortality Risk in Angiography Patients

Author: Kettunen, Johannes, Ritchie, Scott C., Anufrieva, Olga, Lyytikäinen, Leo-Pekka, Hernesniemi, Jussi, Karhunen, Pekka J., Kuukasjärvi, Pekka, Laurikka, Jari, Kähönen, Mika, Lehtimäki, Terho, Havulinna, Aki S., Salomaa, Veikko, Männistö, Satu, Ala-Korpela, Mika, Perola, Markus, Inouye, Michael, and Würtz, Peter
Abstract: Supplemental Digital Content is available in the text.
Published: 2018
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48. Primary prevention and risk factor reduction in coronary heart disease mortality among working aged men and women in eastern Finland over 40 years: population based observational study

Author: Jousilahti, Pekka, Laatikainen, Tiina, Peltonen, Markku, Borodulin, Katja, Männistö, Satu, Jula, Antti, Salomaa, Veikko, Harald, Kennet, Puska, Pekka, and Vartiainen, Erkki
Abstract: Objective To estimate how much changes in the main risk factors of cardiovascular disease (smoking prevalence, serum cholesterol, and systolic blood pressure) can explain the reduction in coronary heart disease mortality observed among working aged men and women in eastern Finland.Design Population based observational study.Setting Eastern Finland.Participants 34 525 men and women aged 30-59 years who participated in the national FINRISK studies between 1972 and 2012.Interventions Change in main cardiovascular risk factors through population based primary prevention. Main outcome measures Predicted and observed age standardised mortality due to coronary heart disease. Predicted change was estimated with a logistic regression model using risk factor data collected in nine consecutive, population based, risk factor surveys conducted every five years since 1972. Data on observed mortality were obtained from the National Causes of Death Register.Results During the 40 year study period, levels of the three major cardiovascular risk factors decreased except for a small increase in serum cholesterol levels between 2007 and 2012. From years 1969-1972 to 2012, coronary heart disease mortality decreased by 82% (from 643 to 118 deaths per 100 000 people) and 84% (114 to 17) among men and women aged 35-64 years, respectively. During the first 10 years of the study, changes in these three target risk factors contributed to nearly all of the observed mortality reduction. Since the mid-1980s, the observed reduction in mortality has been larger than predicted. In the last 10 years of the study, about two thirds (69% in men and 66% in women) of the reduction could be explained by changes in the three main risk factors, and the remaining third by other factors.Conclusion Reductions in disease burden and mortality due to coronary heart disease can be achieved through the use of population based primary prevention programmes. Secondary prevention among high risk individuals and treatment of acute events of coronary heart disease could confer additional benefit.
Published: 2016
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49. Fish Consumption in Relation to Different Dietary Characteristics

Author: Turunen, Anu W, Männistö, Satu, Suominen-Taipale, Liisa, and Verkasalo, Pia K
Published: 2009
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50. An overview of the European Health Examination Survey Pilot Joint Action

Author: Kuulasmaa, Kari, Tolonen, Hanna, Koponen, Päivikki, Kilpeläinen, Katri, Avdicová, Mária, Broda, Grazyna, Calleja, Neville, Dias, Carlos, Gösswald, Antje, Kubinova, Ruzena, Mindell, Jennifer, Männistö, Satu, Palmieri, Luigi, Tell, Grethe, Trichopoulou, Antonia, and Verschuren, WM
Abstract: Health Examination Surveys (HESs) can provide essential information on the health and health determinants of a population, which is not available from other data sources. Nevertheless, only some European countries have systems of national HESs. A study conducted in 2006–2008 concluded that it is feasible to organize national HESs using standardized measurement procedures in nearly all EU countries. The feasibility study also outlined a structure for a European Health Examination Survey (EHES), which is a collaboration to organize standardized HESs in countries across Europe.
Published: 2012
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