• Parental smoking and risk of childhood-onset type 1 diabetes 

      Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi; Granström, Charlotta; Mårild, Karl Staffan; Ueland, Per Magne; Midttun, Øivind; Svensson, Jannet; Johannesen, Jesper; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-11)
      Background: A few prospective studies suggest an association between maternal smoking during pregnancy and lower risk of type 1 diabetes. However, the role of unmeasured confounding and misclassification remains unclear. ...
    • Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes 

      Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-02-05)
      Background Our objective was to examine the associations of parental body mass index (BMI) and maternal gestational weight gain with childhood-onset type 1 diabetes. Comparing the associations of maternal and paternal BMI ...
    • Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes 

      Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-04)
      Background Our objective was to examine the associations of parental body mass index (BMI) and maternal gestational weight gain with childhood-onset type 1 diabetes. Comparing the associations of maternal and paternal BMI ...
    • Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells 

      Valvatne, Monica Dalva; el Jellas, Khadija; Gravdal, Anny; Njølstad, Pål Rasmus; Molven, Anders; Fjeld, Karianne; Lugea, Aurelia; Pandol, Stephen J; Waldron, Richard T; Lavik, Ida; Johansson, Bente B. (Journal article; Peer reviewed, 2020)
      Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes to chronic pancreatitis, whereas the CEL-MODY variant causes ...
    • PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping 

      Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos; Fabregat, Antonio; Johansson, Stefan; Njølstad, Pål Rasmus; Barsnes, Harald; Hermjakob, Henning; Vaudel, Marc (Peer reviewed; Journal article, 2019-07-30)
      Background Mapping biomedical data to functional knowledge is an essential task in bioinformatics and can be achieved by querying identifiers (e.g., gene sets) in pathway knowledge bases. However, the isoform and ...
    • Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children 

      Kilpeläinen, Tuomas O.; Qi, Lu; Brage, Soren; Sharp, Stephen J.; Sonestedt, Emily; Demerath, Ellen; Johansson, Stefan; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2011-11-01)
      Background: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies ...
    • Placental weight centiles adjusted for age, parity and fetal sex 

      Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc; Helgeland, Øyvind; Modzelewska, Dominika; Johansson, Stefan; Jacobsson, Bo; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2022)
      Introduction The weight of the placenta can be indicative of efficacy in nutrient and oxygen supply. Furthermore, it has been suggested that a measure of the placenta's ability to adequately supply nutrients to the fetus ...
    • Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents 

      Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan (Journal article; Peer reviewed, 2020)
      Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone ...
    • The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity 

      Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)
      Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar ...
    • Prediction of type 1 diabetes at birth: Cord blood metabolites vs genetic risk score in the Norwegian mother, father, and child cohort 

      Tapia, German; Suvitaival, Tommi; Ahonen, Linda; Lund-Blix, Nicolai Andre; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Legido-Quigley, Cristina; Størdal, Ketil; Stene, Lars Christian Mørch (Journal article; Peer reviewed, 2021)
      Background and aim: Genetic markers are established as predictive of type 1 diabetes, but unknown early life environment is believed to be involved. Umbilical cord blood may reflect perinatal metabolism and exposures. We ...
    • Prenatal iron exposure and childhood type 1 diabetes 

      Størdal, Ketil; McArdle, Harry J.; Hayes, Helen; Tapia, German; Viken, Marte K; Lund-Blix, Nicolai Andre; Haugen, Margaretha; Joner, Geir; Skrivarhaug, Torild; Mårild, Karl Staffan; Njølstad, Pål Rasmus; Eggesbø, Merete Åse; Mandal, Siddhartha; Page, Christian; London, Stephanie J.; Lie, Benedicte Alexandra; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-06-13)
      Iron overload due to environmental or genetic causes have been associated diabetes. We hypothesized that prenatal iron exposure is associated with higher risk of childhood type 1 diabetes. In the Norwegian Mother and Child ...
    • Reduced Pancreatic Volume in Hepatocyte Nuclear Factor 1A-Maturity-Onset Diabetes of the Young 

      Vesterhus, Mette; Haldorsen, Ingfrid S.; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2008-09)
      Context: There are interplays between the endocrine and exocrine pancreas. Werecently reported an increased frequency of exocrine dysfunction in HNF1A-maturity-onset diabetes of the young (MODY3) patients, compared with ...
    • Relation of health-related quality of life with glycemic control and use of diabetes technology in children and adolescents with type 1 diabetes: Results from a national population based study 

      Bratke, Heiko; Biringer, Eva; Margeirsdottir, Hanna Dis; Njølstad, Pål Rasmus; Skrivarhaug, Torild (Journal article; Peer reviewed, 2022)
      Objective: The primary aim was to analyse the association between diabetes-specific health-related quality of life (HRQOL) and HbA1c in children and adolescents with type 1 diabetes. The secondary aims were to evaluate the ...
    • SeeCiTe: a method to assess CNV calls from SNP arrays using trio data 

      Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus; Jonassen, Inge; Johansson, Stefan (Journal article; Peer reviewed, 2021)
      Motivation Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive platform for assaying copy number variants (CNVs) in large population-wide cohorts. However, current tools for calling CNVs are still ...
    • Serum Acylcarnitines and Risk of Cardiovascular Death and Acute Myocardial Infarction in Patients With Stable Angina Pectoris 

      Strand, Elin; Pedersen, Eva Ringdal; Svingen, Gard Frodahl Tveitevåg; Olsen, Thomas; Bjørndal, Bodil; Karlsson, Therese; Dierkes, Jutta; Njølstad, Pål Rasmus; Mellgren, Gunnar; Tell, Grethe S.; Berge, Rolf Kristian; Svardal, Asbjørn M.; Nygård, Ottar (Peer reviewed; Journal article, 2017-02)
      Background: Excess levels of serum acylcarnitines, which are intermediate products in metabolism, have been observed in metabolic diseases such as type 2 diabetes mellitus. However, it is not known whether acylcarnitines ...
    • Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study 

      Hernáez, Álvaro; Wootton, Robyn E; Page, Christian Magnus; Skåra, Karoline Hansen; Fraser, Abigail; Rogne, Tormod; Magnus, Per Minor; Njølstad, Pål Rasmus; Andreassen, Ole; Burgess, Stephen; Lawlor, Deborah A.; Magnus, Maria Christine (Journal article; Peer reviewed, 2022)
      Objective To investigate the association between smoking and infertility. Design Prospective study. Setting Nationwide cohort. Patients 28,606 women and 27,096 men with questionnaire and genotype information ...
    • Social and genetic associations with educational performance in a Scandinavian welfare state 

      Isungset, Martin Arstad; Conley, Dalton C; Zachrisson, Henrik Daae; Ystrøm, Eivind; Havdahl, Alexandra; Njølstad, Pål Rasmus; Lyngstad, Torkild Hovde (Journal article; Peer reviewed, 2022)
      Recent research has suggested that across Western developed societies, the influence of genetics on educational outcomes is relatively constant. However, the degree to which family environment matters varies, such that ...
    • Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants 

      Kind, Laura; Raasakka, Arne; Molnes, Janne; Aukrust, Ingvild; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Kursula, Petri; Arnesen, Thomas (Journal article; Peer reviewed, 2022)
      Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause ...
    • Subtype-specific surface proteins on adipose tissue macrophages and their association to obesity-induced insulin resistance 

      Strand, Kristina; Stiglund, Natalie; Haugstøyl, Martha Eimstad; Kamyab, Seyedeh Zahra; Langhelle, Victoria Puntervold; Dyer, Laurence; Busch, Christian; Cornillet, Martin; Hjellestad, Iren Drange; Nielsen, Hans Jørgen; Njølstad, Pål Rasmus; Mellgren, Gunnar; Björkström, Niklas K.; Fernø, Johan (Journal article; Peer reviewed, 2022)
      A chronic low-grade inflammation, originating in the adipose tissue, is considered a driver of obesity-associated insulin resistance. Macrophage composition in white adipose tissue is believed to contribute to the pathogenesis ...
    • A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity 

      Bradfield, Jonathan P.; Vogelezang, Suzanne; Felix, Janine F.; Chesi, Alessandra; Helgeland, Øyvind; Horikoshi, Momoko; Karhunen, Ville; Lowry, Estelle; Cousminer, Diana L.; Ahluwalia, Tarunveer S.; Thiering, Elisabeth; Boh, Eileen Tai-Hui; Zafarmand, Mohammad H.; Vilor-Tejedor, Natalia; Wang, Carol A.; Joro, Raimo; Chen, Zhanghua; Gauderman, William J.; Pitkänen, Niina; Parra, Esteban J.; Fernandez-Rhodes, Lindsay; Alyass, Akram; Monnereau, Claire; Curtin, John A.; Have, Christian T.; McCormack, Shana E.; Hollensted, Mette; Frithioff-Bøjsøe, Christine; Valladares-Salgado, Adan; Peralta-Romero, Jesus; Teo, Yik-Ying; Standl, Marie; Leinonen, Jaakko T.; Holm, Jens-Christian; Peters, Triinu; Vioque, Jesus; Vrijheid, Martine; Simpson, Angela; Custovic, Adnan; Vaudel, Marc; Canouil, Mickaël; Lindi, Virpi; Atalay, Mustafa; Kahonen, Mika; Raitakari, Olli T.; van Schaik, Barbera D.C.; Berkowitz, Robert I.; Cole, Shelley A.; Voruganti, V. Saroja; Wang, Yujie; Highland, Heather M.; Comuzzie, Anthony G.; Butte, Nancy F.; Justice, Anne E.; Gahagan, Sheila; Blanco, Estela; Lehtimäki, Terho; Lakka, Timo A.; Hebebrand, Johannes; Bonnefond, Amélie; Grarup, Niels; Froguel, Philippe; Lyytikäinen, Leo-Pekka; Cruz, Miguel; Kobes, Sayuko; Hanson, Robert L.; Zemel, Babette S.; Hinney, Anke; Teo, Koon K.; Meyre, David; North, Kari E.; Gilliland, Frank D.; Bisgaard, Hans; Bustamante, Mariona; Bønnelykke, Klaus; Pennell, Craig E.; Rivadeneira, Fernando; Uitterlinden, André G.; Baier, Leslie J.; Vrijkotte, Tanja G.M.; Heinrich, Joachim; Sørensen, Thorkild I.A.; Saw, Seang-Mei; Pedersen, Oluf; Hansen, Torben; Eriksson, Johan; Widén, Elisabeth; McCarthy, Mark I.; Njølstad, Pål Rasmus; Power, Christine; Hyppönen, Elina; Sebert, Sylvain; Brown, Christopher D.; Järvelin, Marjo-Riitta; Timpson, Nicholas J.; Johansson, Stefan; Hakonarson, Hakon; Jaddoe, Vincent W.V. (Peer reviewed; Journal article, 2019)
      Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted ...