Blar i Bergen Open Research Archive på forfatter "Njølstad, Pål Rasmus"
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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 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 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 ... -
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) -
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 microchimerism in cord blood and risk of childhood-onset type 1 diabetes
Tapia, German; Mortimer, Georgina; Ye, Jody; Gillard, Benjamin Thomas; Chipper-Keating, Saranna; Mårild, Karl Staffan; Viken, Marte K; Lie, Benedicte Alexandra; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Størdal, Ketil; Gillespie, Kathleen; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2019-09)Background: Maternal microchimerism (MMc), the transmission of small quantities of maternal cells to the fetus, is relatively common and persistent. MMc has been detected with increased frequency in the circulation and ... -
Modeling assortative mating and genetic similarities between partners, siblings, and in-laws
Torvik, Fartein Ask; Eilertsen, Espen Moen; Hannigan, Laurie J.; Cheesman, Rosa; Howe, Laurence J.; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Andreassen, Ole A.; Njølstad, Pål Rasmus; Havdahl, Alexandra; Ystrøm, Eivind (Journal article; Peer reviewed, 2022)Assortative mating on heritable traits can have implications for the genetic resemblance between siblings and in-laws in succeeding generations. We studied polygenic scores and phenotypic data from pairs of partners ... -
The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants
El Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne; Antonopoulos, Aristotelis; Immervoll, Heike; Choi, Man Hung; Hoem, Dag; Lowe, Mark E.; Lombardo, Dominique; Njølstad, Pål Rasmus; Dell, Anne; Mas, Eric; Haslam, Stuart M.; Molven, Anders (Peer reviewed; Journal article, 2018)Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a ... -
Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits
Vogelezang, Suzanne; Bradfield, Jonathan P.; Ahluwalia, Tarunveer S.; Curtin, John A.; Lakka, Timo A.; Grarup, Niels; Scholz, Markus; van der Most, Peter J.; Monnereau, Claire; Stergiakouli, Evie; Heiskala, Anni; Horikoshi, Momoko; Fedko, Iryna O.; Vilor-Tejedor, Natalia; Cousminer, Diana L.; Standl, Marie; Wang, Carol A.; Viikari, Jorma; Geller, Frank; Íñiguez, Carmen; Pitkänen, Niina; Chesi, Alessandra; Bacelis, Jonas; Yengo, Loic; Torrent, Maties; Ntalla, Ioanna; Helgeland, Øyvind; Selzam, Saskia; Vonk, Judith M.; Zafarmand, Mohammed H.; Heude, Barbara; Farooqi, Ismaa Sadaf; Alyass, Akram; Beaumont, Robin N.; Have, Christian T.; Rzehak, Peter; Bilbao, Jose Ramon; Schnurr, Theresia M.; Barroso, Inês; Bønnelykke, Klaus; Beilin, Lawrence J.; Carstensen, Lisbeth; Charles, Marie-Aline; Chawes, Bo; Clément, Karine; Closa-Monasterolo, Ricardo; Custovic, Adnan; Eriksson, Johan G.; Vaudel, Marc; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2020)The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed ... -
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland
Thuesen, Anne Cathrine; Stæger, Fredrik Filip; Kaci, Alba; Solheim, Marie Holm; Aukrust, Ingvild; Jørsboe, Emil; Santander, Cindy G.; Andersen, Mette; Li, Zilong; Gilly, Arthur; Stinson, Sara Elizabeth; Gjesing, Anette Prior; Bjerregaard, Peter; Pedersen, Michael Lynge; Larsen, Christina Viskum Lytken; Grarup, Niels; Jørgensen, Marit E.; Zeggini, Eleftheria; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Albrechtsen, Anders; Moltke, Ida; Hansen, Torben (Journal article; Peer reviewed, 2023)Background: The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves ... -
On the importance of parenting in externalizing disorders: an evaluation of indirect genetic effects in families
Eilertsen, Espen Moen; Gillespie Cheesman, Rosa Catherine; Ayorech, Ziada; Røysamb, Espen; Pingault, Jean-Baptiste; Njølstad, Pål Rasmus; Andreassen, Ole; Havdahl, Alexandra Karoline Saasen; McAdams, Tom A.; Torvik, Fartein Ask; Ystrøm, Eivind (Journal article; Peer reviewed, 2022)Background: Theoretical models of the development of childhood externalizing disorders emphasize the role of parents. Empirical studies have not been able to identify specific aspects of parental behaviors explaining a ...