Causes and Mechanisms of Disease Group

Leader Stefan Johansson. Stefan's team investigates how genetic variation contribute to disease using approaches such as GWAS in large cohorts, genome and transcriptome sequencing in rare monogenic disorders, and in depth functional analyses in cell models and zebra fish.

Key competences

• GWAS
• Triad
• RNA-seq
• Proteomics
• Pathway analysis
• Transciptomics
• Metabolomics
• Methylation 

Data sources

• HUSK
• MoBa
• MODY-reg.
• Norwegian childhood diabetes register
• ROAS-biobank

Full list of publications

• PubMed

Recent publications

• Vogelezang, Suzanne, et al. "Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits." PLoS genetics 16.10 (2020): e1008718.
• Smajlagić, Dinka, et al. "Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents." European Journal of Human Genetics (2020): 1-11.
• Bradfield, Jonathan P., et al. "A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity." Human molecular genetics 28.19 (2019): 3327-3338.
• Gudmundsson, Olafur O., et al. "Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder." Translational psychiatry 9.1 (2019): 1-9.
• Helgeland, Ø., Vaudel, M., Juliusson, P. B., Holmen, O. L., Juodakis, J., Bacelis, J., ... & Knudsen, G. P. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature communications, 10(1), 1-10. 
• Sánchez, L. F. H., Burger, B., Horro, C., Fabregat, A., Johansson, S., Njølstad, P. R., ... & Vaudel, M. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping. GigaScience, 8(8), giz088.
• Liu, X., Helenius, D., Skotte, L., Beaumont, R. N., Wielscher, M., Geller, F., ... & Vogelezang, S. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature communications, 10(1), 1-13.
• Qiao, Z., Zheng, J., Helgeland, Ø., Vaudel, M., Johansson, S., Njølstad, P. R., ... & Evans, D. M. (2019). Introducing M-GCTA a Software Package to Estimate Maternal (or Paternal) Genetic Effects on Offspring Phenotypes. Behavior genetics, 1-16.
• Bradfield, J. P., Vogelezang, S., Felix, J. F., Chesi, A., Helgeland, Ø., Horikoshi, M., ... & Thiering, E. (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Human molecular genetics.
• Helgeland, Ø., Vaudel, M., Juliusson, P. B., Holmen, O. L., Juodakis, J., Bacelis, J., ... & Knudsen, G. P. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature communications, 10(1), 1-10.
• Gudmundsson, O. O., Walters, G. B., Ingason, A., Johansson, S., Zayats, T., Athanasiu, L., ... & Jonsson, L. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational Psychiatry, 9(1), 1-9.
• Warrington, N. M., Beaumont, R. N., Horikoshi, M., Day, F. R., Helgeland, Ø., Laurin, C., ... & Wood, A. R. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature genetics, 1.