Stephanie Le Hellards bilde

Stephanie Le Hellard

Professor, Professor in Human Genetics
  • E-postStephanie.LeHellard@uib.no
  • Telefon+47 900 58 089
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
  • Postadresse
    Postboks 7804
    5020 Bergen

I am a Professor in Human Genetics at the department of Clinical Sciences, Facutly of Medicine. I am also a core researcher at the Norwegian Centre for Mental Disorders Research (NORMENT centre of excellence https://www.med.uio.no/norment/english/) and the Bergen Centre for Brain Plasticity (https://helse-bergen.no/en/bergen-center-for-brain-plasticity)

Together with the members of my group we are focusing our research on the Epigenetics of Mental Disorders.

The defintion of Epigenetics is still debated and can be either broad or narrow. Epigenetics in general is interested in modifications that affect the DNA structure. From our research interest, we are especially looking at how DNA modifications, in particular DNA methylation, can be associated with mental disorders and with environmental risk factors.

Most of mental disorders are multifactorial in nature, which means that several genetic risk factors combined with environmental risk factors increase the risk to develop a disorder.

There are DNA methylation differences between people with mental disorders such as schizophrenia, bipolar disorder, anxiety, OCD... and controls. DNA methylation differences are also observed under exposure to some environmental factors such as smoking, stress, cannabis use, etc... There are also some studies that have reported how treatment with either antidepressant or with cognitive therapy can be associated with differences in DNA methylation.

Thus the aim of our research is to identify epigenetic factors associated with the development of psychiatric disorders. 

Specifically our projects are aimed at: 

  • Investigating epigenetic modifications in schizophrenia, bipolar disorder and anxiety disorders.
  • Molecular mechanisms of cannabis exposure risk in patients with psychosis.
  • Identification of regions of differential methylation across psychiatric disorders and through the life span.
  • DNA methylation following childhood trauma.


I am also project leader for the BRY.DEG2020 study which we intiated under the Covid19 outbreak in order to follow up what would be the effect of the epidemic and the restrictions taken, on the mental health of young adults.

I teach Genetics and Evolution to medical students in their 3rd semester, at the Faculty of Medicine, UiB.

I teach a MSc course in Human Genetics (HUMGEN301) at the Faculty of Medicine, UiB.

I also participate in the IGSIN course for PhD students, UiB, and the Master course in Genetics of Cognitive Neuroscience at the University of Oslo.

Vitenskapelig artikkel
  • 2019. Pleiotropic meta-analysis of cognition, education, and schizophrenia differentiates roles of early neurodevelopmental and adult synaptic pathways. American Journal of Human Genetics. 334-350.
  • 2019. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 1469-1482.
  • 2019. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics. 1207-1214.
  • 2019. Genetic architecture of subcortical brain structures in 38,851 individuals. Nature Genetics. 1624-1636.
  • 2019. Common brain disorders are associated with heritable patterns of apparent aging of the brain. Nature Neuroscience. 1617-1623.
  • 2019. Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA psychiatry. 11 sider.
  • 2018. Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: A proof of concept for multivariate endophenotypes. Translational psychiatry. 1-8.
  • 2018. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications. 1-16.
  • 2018. Recently evolved human-specific methylated regions are enriched in schizophrenia signals. BMC Evolutionary Biology. 1-11.
  • 2018. Meta-analysis of Alzheimer’s disease on 9,751 samples from Norway and IGAP study identifies four risk loci. Scientific Reports. 8 sider.
  • 2018. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nature Genetics. 912-919.
  • 2018. Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes. Scientific Reports. 1-8.
  • 2018. Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology. 1264-1273.
  • 2018. Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder. Translational psychiatry. 1-10.
  • 2018. Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Molecular Psychiatry. 1-13.
  • 2018. Analysis of differentially methylated regions in great apes and extinct hominids provides support for the evolutionary hypothesis of schizophrenia. Schizophrenia Research. 8 sider.
  • 2017. Sequencing and de novo assembly of 150 genomes from Denmark as a population reference. Nature. 87-91.
  • 2017. Psychotic patients who used cannabis frequently before illness onset have higher genetic predisposition to schizophrenia than those who did not. Psychological Medicine. 43-49.
  • 2017. Novel genetic loci associated with hippocampal volume. Nature Communications. 1-12.
  • 2017. Large-scale cognitive GWAS meta-analysis reveals tissue-specific neural expression and potential nootropic drug targets. Cell reports. 2597-2613.
  • 2017. Identification of gene loci that overlap between schizophrenia and educational attainment. Schizophrenia Bulletin. 654-664.
  • 2017. GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report form the COGENT consortium. Molecular Psychiatry. 336-345.
  • 2017. Assembly and analysis of 100 full MHC haplotypes from the Danish population. Genome Research. 1597-1607.
  • 2017. Analysis of the joint effect of SNPs to identify independent loci and allelic heterogeneity in schizophrenia GWAS data. Translational psychiatry.
  • 2017. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific Reports. 1-9.
  • 2017. A genetic association study of CSMD1 and CSMD2 with cognitive function. Brain, behavior, and immunity. 209-216.
  • 2016. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience. 1569-1582.
  • 2016. Nationwide genomic study in Denmark reveals remarkable population homogeneity. Genetics. 711-722.
  • 2016. Genome-wide autozygosity is associated with lower general cognitive ability. Molecular Psychiatry. 837-843.
  • 2016. Genetics of structural connectivity and information processing in the brain. Brain Structure and Function. 4643-4661.
  • 2016. Genetic evidence for a role of the SREBP transcription system and lipid biosynthesis in schizophrenia and antipsychotic treatment. European Neuropsychopharmacology. 589-598.
  • 2016. Conservation of Distinct Genetically-Mediated Human Cortical Pattern. PLoS Genetics. 18 sider.
  • 2016. Circadian clock gene variants and insomnia, sleepiness, and shift work disorder. Sleep and Biological Rhythms. 55-62.
  • 2015. Large-scale genomics unveil polygenic architecture of human cortical surface area. Nature Communications.
  • 2015. Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 363-373.
  • 2015. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949). Molecular Psychiatry. 183-192.
  • 2015. Genetic basis of a cognitive complexity metric. PLOS ONE.
  • 2015. Common variants in the ARC gene are not associated with cognitive abilities. Brain and Behavior. 8 sider.
  • 2015. Common genetic variants influence human subcortical brain structures. Nature. 224-229.
  • 2014. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior. 153-182.
  • 2014. Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: A report from the Cognitive Genomics consorTium (COGENT). Molecular Psychiatry. 168-174.
  • 2014. Lack of association of the rs1344706 ZNF804A variant with cognitive functions and DTI indices of white matter microstructure in two independent healthy populations. Psychiatry Research : Neuroimaging. 60-66.
  • 2014. Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins. Translational psychiatry.
  • 2014. Genetic architecture of cognitive traits. Scandinavian Journal of Psychology. 255-262.
  • 2014. GWAS-based pathway analysis differentiates between fluid and crystallized intelligence. Genes, Brain and Behavior.
  • 2014. A possible genetic association with chronic fatigue in primary Sjögren’s syndrome: a candidate gene study. Rheumatology International. 191-197.
  • 2014. A genome-wide association study of anorexia nervosa. Molecular Psychiatry. 1085-1094.
  • 2013. No association of primary Sjögren's syndrome with Fcγ receptor gene variants. Genes and Immunity. 234-237.
  • 2013. A genetic deconstruction of neurocognitive traits in schizophrenia and bipolar disorder. PLOS ONE. 9 sider.
  • 2012. Linkage-disequilibrium-based binning affects the interpretation of GWASs. American Journal of Human Genetics. 727-733.
  • 2012. Imaging and cognitive genetics: the Norwegian Cognitive NeuroGenetics Sample. Twin Research and Human Genetics. 442-452.
  • 2012. Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics. 552-561.
  • 2012. Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders. PLOS ONE. 14 sider.
  • 2012. DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLOS ONE. 12 sider.
  • 2012. Association between genetic variants in the tumour necrosis factor/lymphotoxin alpha/lymphotoxin beta locus and primary Sjogren's syndrome in Scandinavian samples. Annals of the Rheumatic Diseases. 981-988.
  • 2011. The Complement Control-Related Genes CSMD1 and CSMD2 Associate to Schizophrenia. Biological Psychiatry. 35-42.
  • 2011. Potential association of muscarinic receptor 3 gene variants with primary Sjögren's syndrome. Annals of the Rheumatic Diseases. 1327-1329.
  • 2011. Lipogenic effects of psychotropic drugs: focus on the SREBP system. Frontiers in Bioscience. 49-60.
  • 2011. Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Molecular Psychiatry. 996-1005.
  • 2011. Association study of energy homeostasis genes and antipsychotic-induced weight gain in patients with schizophrenia. Pharmacopsychiatry. 15-20.
  • 2010. Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry. 463-472.
  • 2009. Variants in doublecortin- and calmodulin kinase like 1, a gene up-regulated by BDNF, are Associated with memory and general cognitive abilities. PLOS ONE.
  • 2009. Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Research. 256-258.
  • 2009. Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: perturbation of SREBP-controlled lipogenesis in drug-related metabolic adverse effects? Molecular Psychiatry. 308-317.
  • 2009. A possible association between schizophrenia and GRIK3 polymorphisms in a multicenter sample of Scandinavian origin (SCOPE). Schizophrenia Research. 242-248.
  • 2008. Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. Molecular Psychiatry.
  • 2008. Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: pertubation of SREBP-controlled lipogenesis in drug-realted metabolic adverse effects? Molecular Psychiatry. 308-317.
  • 2008. A possible association between schizophrenia and GRIK3 polymorphisms in a multicenter sample of Scandinavian origin (SCOPE). Schizophrenia Research.
  • 2018. Multi-Trait analysis of gwas and biological insights into cognition: A response to Hill (2018). Twin Research and Human Genetics. 394-397.
  • 2012. Response to Zhu et al. American Journal of Human Genetics. 969-970.
  • 2012. Linkage-Disequilibrium-Based Binning Misleads the Interpretation of Genome-wide Association Studies Response. American Journal of Human Genetics. 969-970.
  • 2019. Clinical and molecular effects of guanylate cyclase C-activation.
  • 2018. An evolutionary epigenetics approach to schizophrenia.
  • 2015. A genetic study of schizophrenia and bipolar disorder. A cognitive endophenotype approach.
  • 2013. Human cognitive ability is influenced by genetic variation in components of postsynaptic signaling complexes assembled by MAGUK proteins. Behavior Genetics. 521-522.
  • 2012. No association of primary Sjögren's Syndrome with Fc gamma? Receptor gene variants. Scandinavian Journal of Immunology. 198-198.
  • 2010. Fc gamma receptor IIA, IIIA and IIIB single nucleotide polymorphisms and Fc gamma receptor IIIB copy number variation: No association with primary Sjögren's syndrome. Scandinavian Journal of Rheumatology. 36-36.
  • 2011. Association between tumor necrosis factor, lymphotoxin alpha and beta genetic variants and primary Sjögren`s syndrome in Scandinavian samples.
  • 2009. Fc receptor IIA, IIIA and IIIB single nucleotide polymorphisms and Fc receptor IIIB copy number variation: No association with primary Sjögren’s syndrome.
Vitenskapelig oversiktsartikkel/review
  • 2012. The Imaging and Cognition Genetics Conference 2011, ICG 2011: A Meeting of Minds.

Se fullstendig oversikt over publikasjoner i CRIStin.

See my ORCID page:  https://orcid.org/0000-0002-8085-051X