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

Recent publications

• 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.