2012 © Institute for Molecular Medicine Finland FIMM
Genetics of autoimmune diseases
Both genetic predisposition and environmental triggers are thought to contribute to the development of autoimmune diseases. Despite extensive research the detailed genetic and molecular background of most of the autoimmune diseases are still relatively unclear. Our goal is to improve understanding of biological pathways and pathogenic mechanisms behind common autoimmune diseases such as multiple sclerosis (MS) and osteoarthritis (OA).
Our group is using novel genomics, statistical genetics and bioinformatics tools to investigate MS and OA. In addition to utilizing the Finnish twin and population cohorts and collaborating with large international consortia to identify genes predisposing to autoimmune diseases by genome-wide association analyses, we have used an alternative approach to take advantage of the population history of Finland and the province of Southern Ostrobothnia, which is an old isolate with increased prevalence and familial occurrence of MS. For example, we identified a novel MS predisposing gene, STAT3, using genome-wide association analysis in only 68 distantly related individuals from two extended megapedigrees (Jakkula et al 2010).
In collaboration with the FIMM Technology centre’s sequencing and bioinformatics units we have been developing laboratory and analysis methods for nextgeneration sequencing: we have optimized the sample preparation protocols for next-generation sequencing (Lepistö M, Master’s thesis), evaluated the commercially available exome capture kits (Sulonen et al, manuscript), tested a solution based custom targeting capture method and developed a bioinformatics pipeline for NGS genome sequence analysis (Almusa H, Master’s thesis in preparation, Sulonen et al, manuscript).
Group Members
| Janna Saarela | Group Leader |
| Eveliina Jakkula | Postdoctoral Researcher |
| Virpi Leppä | PhD Student |
| Annu Näkki | PhD Student |
| Anna-Maija Sulonen | PhD Student |
| Henrikki Almusa | Undergraduate Student |
| Maija Lepistö | Undergraduate Student |
Selected Publications
- Jakkula E, Leppä V, Sulonen AM, et al. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet. 2010, 86:285-91.
- International Multiple Sclerosis Genetics Consortium (IMSGC), Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010, 42:469-70.
- Evangelou E, Valdes AM, Kerkhof HJ, et al. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis. 2010.
- De Jager PL, Baecher-Allan C, Maier LM, et al. The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A. 2009, 106:5264-9.