Research groups
Causes and Mechanisms of Disease Group
The group investigates how genetic variation contribute to disease using multiple approaches.
Photo:
Stefan Johansson
Effect sizes for all time points. Regression betas are plotted in BMI-sd units at each time point for lead SNPs in LEPR (rs2767486), ADCY3
(rs13035244), LCORL (rs6842303), LEP (rs10487505), and FTO (rs9922708).
Photo:
Øyvind Helgeland
Main content
Group leader: Stefan Johansson
Our 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 expertise
- GWAS
- Triad
- RNA-seq
- Proteomics
- Pathway analysis
- Transcriptomics
- Metabolomics
- Methylation
Resources
- Helseundersøkelsene i Hordaland (HUSK)
- Norwegian Mother and Child Sudy (MoBa) cohort
- MODY Registry
- Child Diabees Registry
- ROAS biobank
Alle publications
Latest publications
- Eriksson D, Røyrvik EC, Aranda-Guillén M, Berger AH, Landegren N, Artaza H, Hallgren Å, Grytaas MA, Ström S, Bratland E, Botusan IR, Oftedal BE, Breivik L, Vaudel M, Helgeland Ø, Falorni A, Jørgensen AP, Hulting AL, Svartberg J, Ekwall O, Fougner KJ, Wahlberg J, Nedrebø BG, Dahlqvist P, Knappskog PM, Wolff ASB, Bensing S, Johansson S*, Kämpe O*, Husebye ES*. GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nat Commun. 2021 Feb. 11;12(1):959.
- Sole-Navais P, Bacelis J, Helgeland Ø, Modzelewska D, Vaudel M, Flatley C, Andreassen O, Njølstad PR, Muglia LJ, Johansson S, Zhang G, Jacobsson B. Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. Hum Mol Genet. 2021 Feb 4;29(23):3845-3858.
- Lavrichenko K, Helgeland Ø, Njølstad PR, Jonassen I*, Johansson S*. SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. Bioinformatics. 2021 Jan 18; doi: 10.1093/bioinformatics/btab028. Online ahead of print.
- Smajlagić D, Lavrichenko K, Berland S, Helgeland Ø, Knudsen GP, Vaudel M, Haavik J, Knappskog PM, Njølstad PR, Houge G, Johansson S. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. Eur J Hum Genet. 2021 Jan;29(1):205-215.
- 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.
Members
12.04.2021