Genetics of rheumatic and other inflammatory diseases

Genetics of rheumatic and other inflammatory diseases

Human complex diseases characterized by involvement of both environmental and genetic factors with important contribution from gene-gene and gene-environmental interaction. The pathways of most of diseases of this type are influenced through immunological mechanisms, e.g. inflammation. We like to understand how genetic variations influence development and/or protection from human common complex inflammatory diseases.

To determine genetic components of the disease we perform analyses of genetic markers in several loci shown to be linked or associated with this disease, e.g. by genome wide SNP scanning, dense mapping of the locus or re-sequencing. Rheumatoid arthritis, myositis, SLE, IgA nephropathy, asthma, MCTD, Sjögren’s syndrome and multiple sclerosis are subjects of our investigations during last years. We pay special attention to the functionally important genetic markers, which may affect the structure of the molecule or may regulate important control functions. For some of these markers we perform functional genetic studies using mRNA and protein expression analysis.

Interference of common genetic variations with splicing mechanisms is one of our focuses in functional genetics and such mechanism is obvious background for gene-environment interaction.

Copy number variations, haplotype analysis and population genetics are also in the area of our expertise, which gives us an ability to extend the role of established genetic factors to different ethnical groups and populations. In addition, we are working with pharmacogenomics of RA, specifically in relation to MTX and anti-TNF treatment. Our research strategy is to combine a translational approach with basic science using analysis of clinical material and exploring new bioinformatics tools.



If you would like to support this area of research you could do that by using Swish transfer. 
Our Swish number is: 1232457976


Always state the name of group leader in order for us to allocate the gift properly. 


Or you can use the following accounts:

BG 628-4418
PG 514114-8

Always state the name of group leader in order for us to allocate the gift properly. 

If you are outside of Sweden, please use the following information:

Bank: SEB, Stockholm, Sweden
Account No. 5201-11 370 12
Iban-number: SE16 5000 0000 0520 1113 7012
Bic-code (the bank´s electronic address): ESSESESS
Account holder: Center for Molecular Medicine Foundation
L8:05, Karolinska University Hospital
171 76 Stockholm, Sweden



Team leader

Leonid Padyukov


Job title

Senior researcher