Blar i Bergen Open Research Archive på forfatter "Njølstad, Pål Rasmus"
-
FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life: A Meta-Analysis of 41,504 Subjects From the Scandinavian HUNT, MDC, and MPP Studies
Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv Terje; Platou, Carl G. P.; Nilsson, Peter M.; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2011-05)OBJECTIVE—FTO is the most important polygene identified for obesity. We aimed to investigate whether a variant in FTO affects type 2 diabetes risk entirely through its effect on BMI and how FTO influences BMI across adult ... -
Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young
Tijardović, Marko; Štambuk, Tamara; Juszczak, Agata; Keser, Toma; Gasperikova, Daniela; Novokmet, Mislav; Tjora, Erling; Pape Medvidović, Edita; Stanik, Juraj; Njølstad, Pål Rasmus; Lauc, Gordan; Owen, Katharine R.; Gornik, Olga (Journal article; Peer reviewed, 2022)Aims: We previously demonstrated that antennary fucosylated N-glycans on plasma proteins are regulated by HNF1A and can identify cases of Maturity-Onset Diabetes of the Young caused by HNF1A variants (HNF1A-MODY). Based ... -
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects
Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine; Hjaltadottir, Jorunn; Hornnes, Lorentze Hope; Molnes, Janne; Madsen, Andre Greger; Sjøholt, Gry; Bellanne-Chantelot, Christine; Caswell, Richard; Sagen, Jørn Vegard; Njølstad, Pål Rasmus; Aukrust, Ingvild; Bjørkhaug, Lise (Journal article; Peer reviewed, 2024)Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; ... -
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ... -
The genetic architecture of sporadic and multiple consecutive miscarriage
Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa; Painter, Jodie N.; Censin, Jenny C.; Laber, Samantha; Bacelis, Jonas; Chen, Chia-Yen; Lepamets, Maarja; Lin, Kuang; Liu, Siyang; Millwood, Iona Y.; Ramu, Avinash; Southcombe, Jennifer; Andersen, Marianne S.; Yang, Ling; Becker, Christian M.; Børglum, Anders D.; Gordon, Scott D.; Bybjerg-Grauholm, Jonas; Helgeland, Øyvind; Hougaard, David M.; Jin, Xin; Johansson, Stefan; Juodakis, Julius; Kartsonaki, Christina; Kukushkina, Viktorija; Lind, Penelope A.; Metspalu, Andres; Montgomery, Grant W.; Morris, Andrew P.; Mors, Ole; Mortensen, Preben B.; Njølstad, Pål Rasmus; Nordentoft, Merete; Nyholt, Dale R.; Lippincott, Margaret; Seminara, Stephanie; Salumets, Andres; Snieder, Harold; Zondervan, Krina; Werge, Thomas; Chen, Zhengming; Conrad, Donald F.; Jacobsson, Bo; Li, Liming; Martin, Nicholas G.; Neale, Benjamin M.; Nielsen, Rasmus; Walters, Robin G. (Journal article; Peer reviewed, 2020)Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ... -
Genetic association study of childhood aggression across raters, instruments, and age
Ip, Hill F.; van der Laan, Camiel M.; Krapohl, Eva M. L.; Brikell, Isabell; Sánchez-Mora, Cristina; Nolte, Ilja M.; Pourcain, Beate St; Bolhuis, Koen; Palviainen, Teemu; Zafarmand, Hadi; Colodro-Conde, Lucía; Gordon, Scott; Zayats, Tetyana; Aliev, Fazil; Jiang, Chang; Wang, Carol A.; Saunders, Gretchen; Karhunen, Ville; Hammerschlag, Anke R.; Adkins, Daniel E.; Border, Richard; Peterson, Roseann E.; Prinz, Joseph A.; Thiering, Elisabeth; Seppälä, Iikka; Vilor-Tejedor, Natàlia; Ahluwalia, Tarunveer S.; Day, Felix R.; Hottenga, Jouke-Jan; Allegrini, Andrea G.; Rimfeld, Kaili; Chen, Qi; Yi, Lu; Martin, Joanna; Soler Artigas, Marìa; Rovira, Paula; Bosch, Rosa; Español, Gemma; Ramos-Quiroga, Josep Antonio; Neumann, Alexander; Haavik, Jan; Harris, Jennifer Ruth; Helgeland, Øyvind; Johansson, Stefan; Knudsen, Gun Peggy Strømstad; Njølstad, Pål Rasmus; Havdahl, Alexandra; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Boomsma, Dorret I. (Journal article; Peer reviewed, 2021)Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from ... -
Genetic effects on the timing of parturition and links to fetal birth weight
Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur; Vaudel, Marc; Juodakis, Julius; Chen, Jing; Laisk, Triin; LaBella, Abigail L.; Westergaard, David; Bacelis, Jonas; Brumpton, Ben Michael; Skotte, Line; Borges, Maria C.; Helgeland, Øyvind; Mahajan, Anubha; Wielscher, Matthias; Lin, Frederick; Briggs, Catherine; Wang, Carol A.; Moen, Gunn-Helen Øiseth; Beaumont, Robin N.; Bradfield, Jonathan P.; Abraham, Abin; Thorleifsson, Gudmar; Gabrielsen, Maiken Elvestad; Ostrowski, Sisse R.; Modzelewska, Dominika; Nøhr, Ellen Aagaard; Hypponen, Elina; Srivastava, Amit; Talbot, Octavious; Allard, Catherine; Williams, Scott M.; Menon, Ramkumar; Shields, Beverley M.; Sveinbjornsson, Gardar; Xu, Huan; Melbye, Mads; Lowe, William; Bouchard, Luigi; Oken, Emily; Pedersen, Ole B.; Gudbjartsson, Daniel F.; Erikstrup, Christian; Sørensen, Erik; Lie, Rolv T.; Teramo, Kari; Hallman, Mikko; Juliusdottir, Thorhildur; Hakonarson, Hakon; Ullum, Henrik; Hattersley, Andrew T.; Sletner, Line; Merialdi, Mario; Rifas-Shiman, Sheryl L.; Steingrimsdottir, Thora; Scholtens, Denise; Power, Christine; West, Jane; Nyegaard, Mette; Capra, John A.; Skogholt, Anne Heidi; Magnus, Per Minor; Andreassen, Ole; Thorsteinsdottir, Unnur; Grant, Struan F. A.; Qvigstad, Elisabeth; Pennell, Craig E.; Hivert, Marie-France; Hayes, Geoffrey M.; Jarvelin, Marjo-Riitta; McCarthy, Mark I.; Lawlor, Deborah A.; Nielsen, Henriette S.; Mägi, Reedik; Rokas, Antonis; Hveem, Kristian; Stefansson, Kari; Feenstra, Bjarke; Njølstad, Pål Rasmus; Muglia, Louis J.; Freathy, Rachel M.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2023)The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), ... -
The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice
Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim; Alam, Jahedul; Wilhelm, Steven J.; el Jellas, Khadija; Pettersen, Helene Nazmiye; Lin, Jianguo; Solheim, Marie Holm; Steine, Solrun; Johansson, Bente Berg; Njølstad, Pål Rasmus; Verbeke, Caroline Sophie; Xiao, Xunjun; Lowe, Mark E.; Molven, Anders (Journal article; Peer reviewed, 2022)Background & aims: The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant suggested to increase the risk of chronic pancreatitis ... -
Genome-wide analyses of vocabulary size in infancy and toddlerhood: associations with ADHD, literacy and cognition-related traits
Verhoef, Ellen; Allegrini, Andrea G.; Jansen, Philip R.; Lange, Katherine; Wang, Carol A.; Morgan, Angela; Ahluwalia, Tarunveer S.; Symeonides, Christos; Eising, Else; Franken, Marie-Christine; Hypponen, Elina; Mansell, Toby; Olislagers, Mitchell; Omerovic, Emina; Rimfeld, Kaili; Schlag, Fenja; Selzam, Saskia; Shapland, Chin Yang; Tiemeier, Henning; Whitehouse, Andrew J.O.; Saffery, Richard; Bønnelykke, Klaus; Reilly, Sheena; Pennell, Craig E.; Wake, Melissa; Cecil, Charlotte A. M.; Plomin, Robert; Fisher, Simon E.; St Pourcain, Beate; Andreassen, Ole; Bartels, Meike; Boomsma, Dorret; Dale, Philip S.; Ehli, Erik; Fernandez-Orth, Dietmar; Guxens, Mònica; Hakulinen, Christian; Harris, Kathleen Mullan; Haworth, Simon; de Hoyos, Lucía; Jaddoe, Vincent; Keltikangas-Järvinen, Liisa; Lehtimäki, Terho; Middeldorp, Christel; Min, Josine L.; Mishra, Pashupati P.; Njølstad, Pål Rasmus; Sunyer, Jordi; Tate, Ashley E.; Timpson, Nicholas; van der Laan, Camiel; Vrijheid, Martine; Vuoksimaa, Eero; Whipp, Alyce M.; Ystrøm, Eivind (Journal article; Peer reviewed, 2024)Background The number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta–genome-wide ... -
Genome-wide association meta-analysis of childhood and adolescent internalizing symptoms
Jami, Eshim S.; Hammerschlag, Anke R.; Ip, Hill F.; Allegrini, Andrea G.; Benyamin, Beben; Border, Richard; Diemer, Elizabeth W.; Jiang, Chang; Karhunen, Ville; Lu, Yi; Lu, Qing; Mallard, Travis T.; Mishra, Pashupati P.; Nolte, Ilja M.; Palviainen, Teemu; Peterson, Roseann E.; Sallis, Hannah M.; Shabalin, Andrey A.; Tate, Ashley E.; Thiering, Elisabeth; Vilor-Tejedor, Natàlia; Wang, Carol; Zhou, Ang; Adkins, Daniel E.; Alemany, Silvia; Ask, Helga; Chen, Qi; Corley, Robin P.; Ehli, Erik A.; Evans, Luke M.; Havdahl, Alexandra; Hagenbeek, Fiona A.; Hakulinen, Christian; Henders, Anjali K.; Hottenga, Jouke Jan; Korhonen, Tellervo; Mamun, Abdullah; Marrington, Shelby; Neumann, Alexander; Rimfeld, Kaili; Rivadeneira, Fernando; Silberg, Judy L.; van Beijsterveldt, Catharina E.; Vuoksimaa, Eero; Whipp, Alyce M.; Tong, Xiaoran; Andreassen, Ole; Boomsma, Dorret I.; Brown, Sandra A.; Burt, S. Alexandra; Copeland, William; Dick, Danielle M.; Harden, K. Paige; Harris, Kathleen Mullan; Hartman, Catharina A.; Heinrich, Joachim; Hewitt, John K.; Hopfer, Christian; Hypponen, Elina; Jarvelin, Marjo-Riitta; Kaprio, Jaakko; Keltikangas-Järvinen, Liisa; Klump, Kelly L.; Krauter, Kenneth; Kuja-Halkola, Ralf; Larsson, Henrik; Lehtimäki, Terho; Lichtenstein, Paul; Lundström, Sebastian; Maes, Hermine H.; Magnus, Per Minor; Munafò, Marcus R.; Najman, Jake M.; Njølstad, Pål Rasmus; Oldehinkel, Albertine J.; Pennell, Craig E.; Plomin, Robert; Reichborn-Kjennerud, Ted; Reynolds, Chandra; Rose, Richard J.; Smolen, Andrew; Snieder, Harold; Stallings, Michael; Standl, Marie; Sunyer, Jordi; Tiemeier, Henning; Wadsworth, Sally J.; Wall, Tamara L.; Whitehouse, Andrew J.O.; Williams, Gail M.; Ystrøm, Eivind; Nivard, Michel G.; Bartels, Meike; Middeldorp, Christel M. (Journal article; Peer reviewed, 2022)Objective: To investigate the genetic architecture of internalizing symptoms in childhood and adolescence. Method: In 22 cohorts, multiple univariate genome-wide association studies (GWASs) were performed using repeated ... -
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njølstad, Pål Rasmus; Nohr, Ellen A.; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa-Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Sørensen, Thorkild I.A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Hivert, Marie-France; Frayling, Timothy M.; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M. (Peer reviewed; Journal article, 2018-02)Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated ... -
A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans
Moksnes, Marta Riise; Hansen, Ailin Falkmo; Wolford, Brooke; Thomas, Laurent Francois; Rasheed, Humaira; Simic, Anica; Bhatta, Laxmi; Brantsæter, Anne Lise; Surakka, Ida; Zhou, Wei; Magnus, Per Minor; Njølstad, Pål Rasmus; Andreassen, Ole; Syversen, Tore; Zheng, Jie; Fritsche, Lars; Evans, David M.; Warrington, Nicole Maree; Nøst, Therese Haugdahl; Åsvold, Bjørn Olav; Flaten, Trond Peder; Willer, Cristen J.; Hveem, Kristian; Brumpton, Ben Michael (Journal article; Peer reviewed, 2024)Trace elements are important for human health but may exert toxic or adverse effects. Mechanisms of uptake, distribution, metabolism, and excretion are partly under genetic control but have not yet been extensively mapped. ... -
Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth
Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt; Holmen, Oddgeir Lingaas; Juodakis, Julius; Bacelis, Jonas; Jacobsson, Bo; Lindekleiv, Haakon; Hveem, Kristian; Lie, Rolv T.; Knudsen, Gun Peggy Strømstad; Stoltenberg, Camilla; Magnus, Per; Sagen, Jørn V.; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2019-10-01)Infant and childhood growth are dynamic processes with large changes in BMI during development. By performing genome-wide association studies of BMI at 12 time points from birth to eight years (9286 children, 74,105 ... -
How important are parents in the development of child anxiety and depression? A genomic analysis of parent-offspring trios in the Norwegian Mother Father and Child Cohort Study (MoBa)
Cheesman, Rosa; Eilertsen, Espen Moen; Ahmadzadeh, Yasmin I.; Gjerde, Line C.; Hannigan, Laurie John; Havdahl, Alexandra; Young, Alexander I.; Eley, Thalia C.; Njølstad, Pål Rasmus; Magnus, Per; Andreassen, Ole Andreas; Ystrøm, Eivind; McAdams, Tom A. (Journal article; Peer reviewed, 2020)Background Many studies detect associations between parent behaviour and child symptoms of anxiety and depression. Despite knowledge that anxiety and depression are influenced by a complex interplay of genetic and ... -
Impact of overweight on glucose homeostasis in MODY2 and MODY3
Romuld, Ingunn Bratland; Kalleklev, Tine-Lise; Molnes, Janne; Juliusson, Pétur Benedikt; Njølstad, Pål Rasmus; Sagen, Jørn Vegard (Journal article; Peer reviewed, 2021) -
Impaired glucose tolerance and cardiovascular risk factors in relation to infertility: a Mendelian randomization analysis in the Norwegian Mother, Father, and Child Cohort Study
Hernáez, Álvaro; Lee, Yunsung; Page, Christian Magnus; Skåra, Karoline Hansen; Håberg, Siri Eldevik; Magnus, Per Minor; Njølstad, Pål Rasmus; Andreassen, Ole; Corfield, Elizabeth Claire; Havdahl, Alexandra; Fraser, Abigail; Burgess, Stephen; Lawlor, Deborah A.; Magnus, Maria Christine (Journal article; Peer reviewed, 2024)Study question: Are impaired glucose tolerance (as measured by fasting glucose, glycated hemoglobin, and fasting insulin) and cardiovascular disease risk (as measured by low-density lipoprotein cholesterol, high-density ... -
Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study
Lund-Blix, Nicolai Andre; Tapia, German; Mårild, Karl Staffan; Brantsæter, Anne Lise; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Størdal, Ketil; Stene, Lars Christian Mørch (Journal article; Peer reviewed, 2020)Background The relationship between maternal gluten intake in pregnancy, offspring intake in childhood, and offspring risk of type 1 diabetes has not been examined jointly in any studies. Our aim was to study the relationship ... -
Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes
Tapia, German; Mårild, Karl Staffan; Dahl, Sandra Rinne; Lund-Blix, Nicolai Andre; Viken, Marte K; Lie, Benedicte Alexandra; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Cohen, Arieh S; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2019-04)OBJECTIVE Circumstantial evidence links 25-hydroxy vitamin D [25(OH)D], vitamin D–binding protein (DBP), vitamin D–associated genes, and type 1 diabetes (T1D), but no studies have jointly analyzed these. We aimed to ... -
Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring
Haan, Elis; Sallis, Hannah M.; Ystrøm, Eivind; Njølstad, Pål Rasmus; Andreassen, Ole Andreas; Reichborn-Kjennerud, Ted; Munafo, Marcus R.; Havdahl, Alexandra; Zuccolo, Luisa (Journal article; Peer reviewed, 2021)Background: Studies investigating the effects of prenatal alcohol exposure on childhood attention-deficit hyperactivity disorder (ADHD) symptoms using conventional observational designs have reported inconsistent findings, ... -
Maternal Fiber Intake During Pregnancy and Development of Attention-Deficit/Hyperactivity Disorder Symptoms Across Childhood: The Norwegian Mother, Father, and Child Cohort Study
Solberg, Berit Skretting; Kvalvik, Liv Grimstvedt; Instanes, Johanne Telnes; Hartman, Catharina A.; Klungsøyr, Kari; Li, Lin; Larsson, Henrik; Magnus, Per Minor; Njølstad, Pål Rasmus; Johansson, Stefan; Andreassen, Ole; Bakken, Nora Refsum; Bekkhus, Mona; Austerberry, Chloe; Smajlagic, Dinka; Havdahl, Alexandra; Corfield, Elizabeth Claire; Haavik, Jan; Gjestad, Rolf; Zayats, Tetyana (Journal article; Peer reviewed, 2023)Background Epidemiological studies suggest that maternal diet quality during pregnancy may influence the risk of neurodevelopmental disorders in offspring. Here, we investigated associations between maternal intake of ...