Team Genetics of Autoimmunity

What is genetic contribution to autoimmune diseases?

Group photo
Team Leonid Padyukov


Genetic risk of autoimmune diseases is important to study to find out disease mechanisms, for development of new diagnostic tools and for prediction of disease progress and treatment success.


Research focus

The main focus of our group is on genetic factors involved in development of human diseases with complex etiology. This group of diseases is characterized by involvement of environmental and genetic factors that influences different pathways, e.g. immunological mechanisms. To determine genetic component of the disease we perform analysis of genetic markers in several loci shown to be linked or associated with these diseases. Rheumatoid arthritis, SLE myositis, IgA nephropathy, asthma, MCTD, multiply sclerosis are subjects of our investigations during last years. We study cytokine and cytokine receptor genes, genes from HLA complex and other genes with functional links to immune responses. We pay special attention to the functionally important genetic markers, shown to affect structure of the molecule or having important control functions. For some of these markers we perform functional genetic studies using mRNA and protein expression analysis. Haplotype analysis and population genetics are also in the area of our interests that give us possibility to compare the role of established genetic factors in different ethnical groups and populations. Our strategy is to combine a translational approach with basic science using analysis of clinical material and exploring new bioinformatics tools.

Team/group members

Barbro Larsson, Laboratory Assistant, CMM L8:O4

Lina Marcela Diaz, postdoc, CMM L8:O5

Niyaz Yoosuf, postdoc, CMM L8:O5

Miranda Houtman, postdoc, CMM L8:O5

Åsa Hedman, postdoc, CMM L8:O5

Gilad Silberberg, Assistent Professor, CMM L8:O5

Natalia Rivera, Assistent Professor, CMM L8:O5

Kim Tan Lay, PhD student

Maryam Mukhtar, exchange PhD student

Anna Dzebisashvili, visiting researcher

Luis Panaifo, Master student

Kim Franson, medical student

Igor Sandalov, Associate Researcher

Former group members:

Juan Galindo Valdes

Radovan Krejčíř

Espen Hesselberg

Klementy Shchetynsky

Caitlín Ní Chasaide

Ivonne Pelaez Giraldo

Wail Elshubaki

Darya Protsyuk

Maria Seddighzadeh

Marcus Ronninger

Emeli Lundström

Chun Lai Too

Mai Tuyet Vuong

Carina Eklöw

Marina Smolnikova

Ylva Hermansson

Key publications

Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis.
Diaz-Gallo LM, Ramsköld D, Shchetynsky K, Folkersen L, Chemin K, Brynedal B, et al
Ann. Rheum. Dis. 2018 10;77(10):1454-1462

T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients.
Houtman M, Ekholm L, Hesselberg E, Chemin K, Malmström V, Reed AM, et al
Arthritis Res. Ther. 2018 08;20(1):188

T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus.
Houtman M, Shchetynsky K, Chemin K, Hensvold AH, Ramsköld D, Tandre K, et al
J. Autoimmun. 2018 06;90():28-38

Common variants of T-cells contribute differently to phenotypic variation in sarcoidosis.
Rivera NV, Hagemann-Jensen M, Ferreira MAR, Kullberg S, Eklund A, Martin NG, et al
Sci Rep 2017 07;7(1):5623

Differences in the Spectrum of Anti-Citrullinated Protein Antibody Fine Specificities Between Malaysian and Swedish Patients With Rheumatoid Arthritis: Implications for Disease Pathogenesis.
Too CL, Murad S, Hansson M, Alm LM, Dhaliwal JS, Holmdahl R, et al
2017 01;69(1):58-69

Gene-gene interaction and RNA splicing profiles of MAP2K4 gene in rheumatoid arthritis.
Shchetynsky K, Protsyuk D, Ronninger M, Diaz-Gallo LM, Klareskog L, Padyukov L
Clin. Immunol. 2015 May;158(1):19-28

A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R, Italiaander A, Coenen M, et al
Ann. Rheum. Dis. 2015 Mar;74(3):e15

Genetic vectors as a tool in association studies: definitions and application for study of rheumatoid arthritis.
Sandalov I, Padyukov L
Int J Genomics 2015 ;2015():256818

Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis.
Liu Y, Aryee MJ, Padyukov L, Fallin MD, Hesselberg E, Runarsson A, et al
Nat. Biotechnol. 2013 Feb;31(2):142-7

The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls.
Ronninger M, Guo Y, Shchetynsky K, Hill A, Khademi M, Olsson T, et al
Genome Med 2012 Jan;4(1):2

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, et al
N. Engl. J. Med. 2007 Sep;357(12):1199-209

Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform.
Bergin AM, Balder B, Kishore S, Swärd K, Hahn-Zoric M, Löwhagen O, et al
Hum. Mutat. 2006 Oct;27(10):990-8

A gene-environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis.
Padyukov L, Silva C, Stolt P, Alfredsson L, Klareskog L
Arthritis Rheum. 2004 Oct;50(10):3085-92