• Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis 

      Zhang, Ge; Bacelis, Jonas; Lengyel, Candice; Teramo, Kari; Hallman, Mikko; Helgeland, Øyvind; Johansson, Stefan; Myhre, Ronny; Sengpiel, Verena; Njølstad, Pål Rasmus; Jacobsson, Bo; Muglia, Louis (Peer reviewed; Journal article, 2015-08-18)
      Background: Observational epidemiological studies indicate that maternal height is associated with gestational age at birth and fetal growth measures (i.e., shorter mothers deliver infants at earlier gestational ages with ...
    • Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population 

      Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Najmi, Laeya Abdoli; Njølstad, Pål Rasmus; MacArthur, Daniel G.; The SIGMA Type 2 Diabetes Consortium (Peer reviewed; Journal article, 2014-06)
      Importance: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. Objectives: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in ...
    • Associations between health behaviours, fertility and reproductive outcomes: triangulation of evidence in the Norwegian Mother, Father and Child Cohort Study (MoBa) 

      Wootton, Robyn E.; Lawn, Rebecca B.; Magnus, Maria C.; Treur, Jorien L.; Corfield, Elizabeth C.; Njølstad, Pål Rasmus; Andreassen, Ole A.; Lawlor, Deborah A.; Munafò, Marcus R.; Håberg, Siri E.; Smith, George Davey; Reichborn-Kjennerud, Ted; Magnus, Per; Havdahl, Alexandra (Journal article; Peer reviewed, 2023)
      Background Guidance to improve fertility includes reducing alcohol and caffeine consumption, achieving healthy weight-range and stopping smoking. Advice is informed by observational evidence, which is often biased by ...
    • Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios 

      Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind; Modzelewska, Dominika; Vaudel, Marc; Flatley, Christopher; Andreassen, Ole; Njølstad, Pål Rasmus; Muglia, Louis J.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2020)
      Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring ...
    • Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study 

      Hughes, Amanda M.; Sanderson, Eleanor; Morris, Tim; Ayorech, Ziada; Tesli, Martin Steen; Ask, Helga; Reichborn-Kjennerud, Ted; Andreassen, Ole; Magnus, Per Minor; Helgeland, Øyvind; Johansson, Stefan; Njølstad, Pål Rasmus; Davey Smith, George; Havdahl, Alexandra Karoline Saasen; Howe, Laura D.; Davies, Neil Martin (Journal article; Peer reviewed, 2022)
      Background: Higher BMI in childhood is associated with emotional and behavioural problems, but these associations may not be causal. Results of previous genetic studies imply causal effects but may reflect influence of ...
    • Bounding the average causal effect in Mendelian randomisation studies with multiple proposed instruments: An application to prenatal alcohol exposure and attention deficit hyperactivity disorder 

      Diemer, Elizabeth W.; Havdahl, Alexandra; Andreassen, Ole A.; Munafò, Marcus R.; Njølstad, Pål Rasmus; Tiemeier, Henning; Zuccolo, Luisa; Swanson, Sonja A. (Journal article; Peer reviewed, 2023)
      Background As large-scale observational data become more available, caution regarding causal assumptions remains critically important. This may be especially true for Mendelian randomisation (MR), an increasingly popular ...
    • Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes 

      Svalastoga, Pernille; Kaci, Alba; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Krogvold, Lars; Skrivarhaug, Torild; Valen, Eivind; Johansson, Stefan; Molven, Anders; Sagen, Jørn Vegard; Søfteland, Eirik; Bjørkhaug, Lise; Tjora, Erling; Aukrust, Ingvild; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2023)
      Aims/hypothesis Correctly diagnosing MODY is important, as individuals with this diagnosis can discontinue insulin injections; however, many people are misdiagnosed. We aimed to develop a robust approach for determining ...
    • Characterization of the genetic architecture of infant and early childhood body mass index 

      Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol; Flatley, Christopher; Juodakis, Julius; Bacelis, Jonas; Koløen, Ingvild; Knudsen, Gun Peggy Strømstad; Johansson, Bente Berg; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Juliusson, Pétur Benedikt; Stoltenberg, Camilla; Holmen, Oddgeir Lingaas; Andreassen, Ole; Jacobsson, Bo; Njølstad, Pål Rasmus; Johansson, Stefan (Journal article; Peer reviewed, 2022)
      Early childhood obesity is a growing global concern; however, the role of common genetic variation on infant and child weight development is unclear. Here, we identify 46 loci associated with early childhood body mass index ...
    • Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies 

      Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte; Andersen, Marie Louise Max; Sandal, Tone; de Wet, Heidi; Schwarcz, Erik; Åman, Jan; Swift, Peter; Kocova, Mirjana; Schönle, Eugen J.; de Beaufort, Carine; Hougaard, Philip; Ashcroft, Frances; Molven, Anders; Knip, Mikael; Mortensen, Henrik B.; Hansen, Lars; Njølstad, Pål Rasmus; Hvidøre Study Group on Childhood Diabetes (Peer reviewed; Journal article, 2010-09-23)
      Background: To investigate disease progression the first 12 months after diagnosis in children with type 1 diabetes negative (AAB negative) for pancreatic autoantibodies [islet cell autoantibodies(ICA), glutamic acid ...
    • Do environmental effects indexed by parental genetic variation influence common psychiatric symptoms in childhood? 

      Jami, Eshim S.; Hammerschlag, Anke R.; Sallis, Hannah M.; Qiao, Zhen; Andreassen, Ole A.; Magnus, Per Minor; Njølstad, Pål Rasmus; Havdahl, Alexandra; Pingault, Jean-Baptiste; Evans, David M.; Munafò, Marcus R.; Ystrom, Eivind; Bartels, Meike; Middeldorp, Christel (Journal article; Peer reviewed, 2023)
      Parental genes may indirectly influence offspring psychiatric outcomes through the environment that parents create for their children. These indirect genetic effects, also known as genetic nurture, could explain individual ...
    • Does Current Diabetes Technology Improve Metabolic Control? A Cross-Sectional Study on the Use of Insulin Pumps and Continuous Glucose Monitoring Devices in a Nationwide Pediatric Population 

      Bratke, Heiko; Margeirsdottir, Hanna D.; Assmus, Jörg; Njølstad, Pål Rasmus; Skrivarhaug, Torild (Journal article; Peer reviewed, 2021)
      Objective To examine the use of multiple daily injections (MDI), insulin pumps, self-measured blood glucose (SMBG), and continuous glucose monitoring (CGM) systems, and their association with glycated hemoglobin (HbA1c), ...
    • The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α 

      Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild (Peer reviewed; Journal article, 2018-08-24)
      The transcription factor hepatocyte nuclear factor-1α (HNF-1A) is involved in normal pancreas development and function. Rare variants in the HNF1A gene can cause monogenic diabetes, while common variants confer type 2 ...
    • Early manifestations of genetic risk for neurodevelopmental disorders 

      Askeland, Ragna Bugge; Hannigan, Laurie J.; Ask, Helga; Ayorech, Ziada; Tesli, Martin Steen; Corfield, Elizabeth; Magnus, Per Minor; Njølstad, Pål Rasmus; Andreassen, Ole A.; Smith, George Davey; Reichborn-Kjennerud, Ted; Havdahl, Alexandra (Journal article; Peer reviewed, 2021)
      Background: Attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (autism) and schizophrenia are highly heritable neurodevelopmental disorders, affecting the lives of many individuals. It is important ...
    • Etablering av mastergradsstudium i Molekylærmedisin ved Medisinsk fakultet, Universitetet i Bergen 

      Njølstad, Pål Rasmus (UPED-skrift nr. 1/2004, Working paper, 2004)
      Pål Rasmus Njøstad (Det medisinske fakultet) tar for seg etableringen av et mastergradsstudium i molekylærmedisin ved Det medisinsk fakultet som et tredje program innen mastergraden i humanbiologiske fag. Han beskriver ...
    • Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study) 

      Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Platou, Carl G. P.; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2011-02-04)
      <b>Background:</b> Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment ...
    • Exome Sequencing and Genetic Testing for MODY 

      Johansson, Stefan; Irgens, Henrik; Chudasama, Kishan K.; Molnes, Janne; Aerts, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Roque, Francisco S.; Jonassen, Inge; Molven, Anders (Peer reviewed; Journal article, 2012-05-25)
      Context: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard ...
    • 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 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 ...