Biomedical research at Oslo University Hospital

Publications (original articles or review articles) published in 2021 from OUS - Department of Medical Genetics

38 publications found

Akkouh IA, Hughes T, Steen VM, Glover JC, Andreassen OA, Djurovic S, Szabo A (2021)
Transcriptome analysis reveals disparate expression of inflammation-related miRNAs and their gene targets in iPSC-astrocytes from people with schizophrenia
Brain Behav Immun, 94, 235-244
DOI 10.1016/j.bbi.2021.01.037, PubMed 33571628

Andersen E, Chollet ME, Sletten M, Stavik B, Skarpen E, Backe PH, Thiede B, Glosli H, Henriksson CE, Iversen N (2021)
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
Thromb Haemost (in press)
DOI 10.1055/a-1450-8568, PubMed 33742435

Aure MR, Fleischer T, Bjørklund S, Ankill J, Castro-Mondragon JA, OSBREAC, Børresen-Dale AL, Tost J, Sahlberg KK, Mathelier A, Tekpli X, Kristensen VN (2021)
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
Genome Med, 13 (1), 72
DOI 10.1186/s13073-021-00880-4, PubMed 33926515

Bahrami S, Shadrin A, Frei O, O'Connell KS, Bettella F, Krull F, Fan CC, Røssberg JI, Hindley G, Ueland T, Dale AM, Djurovic S, Steen NE, Smeland OB, Andreassen OA (2021)
Genetic loci shared between major depression and intelligence with mixed directions of effect
Nat Hum Behav
DOI 10.1038/s41562-020-01031-2, PubMed 33462475

Ben-Elazar S, Aure MR, Jonsdottir K, Leivonen SK, Kristensen VN, Janssen EAM, Kleivi Sahlberg K, Lingjærde OC, Yakhini Z (2021)
miRNA normalization enables joint analysis of several datasets to increase sensitivity and to reveal novel miRNAs differentially expressed in breast cancer
PLoS Comput Biol, 17 (2), e1008608
DOI 10.1371/journal.pcbi.1008608, PubMed 33566819

Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD et al. (2021)
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nat Genet, 53 (1), 65-75
DOI 10.1038/s41588-020-00748-0, PubMed 33398198

Cui XY, Tjønnfjord GE, Kanse SM, Dahm AEA, Iversen N, Myklebust CF, Sun L, Jiang ZX, Ueland T, Campbell JJ, Ho M, Sandset PM (2021)
Tissue factor pathway inhibitor upregulates CXCR7 expression and enhances CXCL12-mediated migration in chronic lymphocytic leukemia
Sci Rep, 11 (1), 5127
DOI 10.1038/s41598-021-84695-8, PubMed 33664415

Fjukstad KK, Athanasiu L, Bahrami S, O'Connell KS, van der Meer D, Bettella F, Dieset I, Steen NE, Djurovic S, Spigset O, Andreassen OA (2021)
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study
Pharmacogenomics J
DOI 10.1038/s41397-021-00234-8, PubMed 33824429

Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE (2021)
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 319, 108-117
DOI 10.1016/j.atherosclerosis.2021.01.008, PubMed 33508743

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091

Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A, Epilepsy Climate Change Consortium, Sisodiya SM (2021)
Climate change and epilepsy: Insights from clinical and basic science studies
Epilepsy Behav, 116, 107791
DOI 10.1016/j.yebeh.2021.107791, PubMed 33578223

Haftorn KL, Lee Y, Denault WRP, Page CM, Nustad HE, Lyle R, Gjessing HK, Malmberg A, Magnus MC, Næss Ø, Czamara D, Räikkönen K, Lahti J, Magnus P, Håberg SE, Jugessur A, Bohlin J (2021)
An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies
Clin Epigenetics, 13 (1), 82
DOI 10.1186/s13148-021-01055-z, PubMed 33875015

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med
DOI 10.1038/s41436-021-01114-z, PubMed 33658631

Heinicke F, Zhong X, Flåm ST, Breidenbach J, Leithaug M, Mæhlen MT, Lillegraven S, Aga AB, Norli ES, Mjaavatten MD, Haavardsholm EA, Zucknick M, Rayner S, Lie BA (2021)
MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients
Front Immunol, 12, 663736
DOI 10.3389/fimmu.2021.663736, PubMed 33897713

Hellstrøm T, Andelic N, de Lange AG, Helseth E, Eiklid K, Westlye LT (2021)
Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
J Clin Med, 10 (3)
DOI 10.3390/jcm10030418, PubMed 33499167

Huynh-Le MP, Fan CC, Karunamuni R, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir K, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nielsen SF, Nordestgaard BG, Wiklund F, Tangen CM, Giles GG, Wolk A, Albanes D, Travis RC, Blot WJ et al. (2021)
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nat Commun, 12 (1), 1236
DOI 10.1038/s41467-021-21287-0, PubMed 33623038

Johnsen GM, Fjeldstad HES, Drabbels JJM, Haasnoot GW, Eikmans M, Størvold GL, Alnaes-Katjavivi P, Jacobsen DP, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2021)
A possible role for HLA-G in development of uteroplacental acute atherosis in preeclampsia
J Reprod Immunol, 144, 103284
DOI 10.1016/j.jri.2021.103284, PubMed 33578175

Johnson N, Maguire S, Morra A, Kapoor PM, Tomczyk K, Jones ME, Schoemaker MJ, Gilham C, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baynes C, Freeman LEB, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Boeckx B et al. (2021)
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Br J Cancer, 124 (4), 842-854
DOI 10.1038/s41416-020-01185-w, PubMed 33495599

Kallak TK, Bränn E, Fransson E, Johansson Å, Lager S, Comasco E, Lyle R, Skalkidou A (2021)
DNA methylation in cord blood in association with prenatal depressive symptoms
Clin Epigenetics, 13 (1), 78
DOI 10.1186/s13148-021-01054-0, PubMed 33845866

Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Eeles RA, Kote-Jarai Z, Muir K, Lophatananon A, UKGPCS collaborators, Schleutker J, Pashayan N, Batra J, APCB BioResource (Australian Prostate Cancer BioResource), Grönberg H, Walsh EI, Turner EL, Lane A, Martin RM, Neal DE, Donovan JL, Hamdy FC, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A et al. (2021)
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer Prostatic Dis
DOI 10.1038/s41391-020-00311-2, PubMed 33420416

Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H et al. (2021)
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
J Allergy Clin Immunol (in press)
DOI 10.1016/j.jaci.2020.12.656, PubMed 33662367

Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A et al. (2021)
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192

Leren TP, Bogsrud MP (2021)
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993?2020
Atherosclerosis, 322, 61-66

Mileti E, Kwok KH, Andersson DP, Mathelier A, Raman A, Bäckdahl J, Jalkanen J, Massier L, Thorell A, Gao H, Arner P, Mejhert N, Daub CO, Rydén M (2021)
Human white adipose tissue displays selective insulin resistance in the obese state
Diabetes (in press)
DOI 10.2337/db21-0001, PubMed 33863803

O'Connell KS, Sønderby IE, Frei O, van der Meer D, Athanasiu L, Smeland OB, Alnæs D, Kaufmann T, Westlye LT, Steen VM, Andreassen OA, Hughes T, Djurovic S (2021)
Association between complement component 4A expression, cognitive performance and brain imaging measures in UK Biobank
Psychol Med, 1-11 (in press)
DOI 10.1017/S0033291721000179, PubMed 33653435

Øyri LKL, Bogsrud MP, Christensen JJ, Ulven SM, Brantsæter AL, Retterstøl K, Brekke HK, Michelsen TM, Henriksen T, Roeters van Lennep JE, Magnus P, Veierød MB, Holven KB (2021)
Novel associations between parental and newborn cord blood metabolic profiles in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 19 (1), 91
DOI 10.1186/s12916-021-01959-w, PubMed 33849542

Penna-Martinez M, Meyer G, Wolff AB, Skinningsrud B, Betterle C, Falorni A, Ollier W, Undlien D, Husebye E, Pearce S, Mitchell AL, Badenhoop K (2021)
Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts
Eur J Endocrinol, 184 (3), 373-381
DOI 10.1530/EJE-20-0956, PubMed 33444227

Reis de Assis D, Szabo A, Requena Osete J, Puppo F, O'Connell KS, A Akkouh I, Hughes T, Frei E, A Andreassen O, Djurovic S (2021)
Using iPSC Models to Understand the Role of Estrogen in Neuron-Glia Interactions in Schizophrenia and Bipolar Disorder
Cells, 10 (2)
DOI 10.3390/cells10020209, PubMed 33494281

Rødevand L, Bahrami S, Frei O, Lin A, Gani O, Shadrin A, Smeland OB, Connell KSO, Elvsåshagen T, Winterton A, Quintana DS, Hindley GFL, Werner MCF, Djurovic S, Dale AM, Lagerberg TV, Steen NE, Andreassen OA (2021)
Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms
Transl Psychiatry, 11 (1), 3
DOI 10.1038/s41398-020-01142-4, PubMed 33414458

Rootwelt-Norberg C, Lie ØH, Chivulescu M, Castrini AI, Sarvari SI, Lyseggen E, Almaas VM, Bogsrud MP, Edvardsen T, Haugaa KH (2021)
Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy
Europace (in press)
DOI 10.1093/europace/euab077, PubMed 33829244

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI et al. (2021)
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Am J Hum Genet (in press)
DOI 10.1016/j.ajhg.2021.04.008, PubMed 33909990

Solis N, Zavaleta E, Wernhoff P, Dominguez-Barrera C, Dominguez-Valentin M (2021)
Challenges to Bringing Personalized Medicine to a Low-Resource Setting in Peru
Int J Environ Res Public Health, 18 (4)
DOI 10.3390/ijerph18041470, PubMed 33557277

Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM et al. (2021)
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs
Hum Brain Mapp
DOI 10.1002/hbm.25354, PubMed 33615640

Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S et al. (2021)
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Transl Psychiatry, 11 (1), 182
DOI 10.1038/s41398-021-01213-0, PubMed 33753722

Stang A, McMaster ML, Sesterhenn IA, Rapley E, Huddart R, Heimdal K, McGlynn KA, Oosterhuis JW, Greene MH (2021)
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers (Basel), 13 (7)
DOI 10.3390/cancers13071652, PubMed 33916078

Teixeira da Costa LF (2021)
On the possible existence of a liver LDL-ostat, and its malfunctioning in familial hypercholesterolemia
Med Hypotheses, 147, 110500
DOI 10.1016/j.mehy.2021.110500, PubMed 33515861

van Asch B, Teixeira da Costa LF (2021)
Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms
Genetica, 149 (1), 1-19
DOI 10.1007/s10709-021-00113-x, PubMed 33515402

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J et al. (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Am J Hum Genet, 108 (5), 857-873
DOI 10.1016/j.ajhg.2021.04.001, PubMed 33961779