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Aberrant expression of the PD-1 and RUNX genes in activated CD4+ T cells in patients with systemic lupus erythematosus
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
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Manuscript (Other academic)
URN: urn:nbn:se:uu:diva-91530OAI: oai:DiVA.org:uu-91530DiVA: diva2:164295
Available from: 2004-04-08 Created: 2004-04-08 Last updated: 2010-01-13Bibliographically approved
In thesis
1. Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases
Open this publication in new window or tab >>Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases
2004 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases affecting 0.05-2% of the population worldwide.

Genetic studies detected linkage with SLE in the 2q37 region, and intensive family-based and case-control association studies in several populations identified that allele A of the SNP PD-1.3 located in the immunoreceptor PDCD1 (PD-1) gene, increases risk of the disease by 2.6-fold in Caucasians (p<0.00001) and by 3.5-fold in Mexicans (p=0.0009).

The same allele was found to be a risk factor for lupus nephritis, a severe clinical manifestation of SLE. In Swedish and European-American females with SLE, patients with the allele A had nephritis 1.8 times (p=0.01) more often than patients with allele G .

Moreover, the allele A was also found 1.8 times (p=0.005) more often in RA patients, negative for the known risk-factors, rheumatoid factor and the shared epitope, than in other groups of patients and controls.

Functional studies demonstrated that the mechanism behind the SNP PD-1.3 is related to the disruption of the binding site for RUNX transcription factors in the regulatory region. Expression of the PD-1 and RUNX genes was altered in the activated T cells of SLE patients compared to controls.

The Tumor Necrosis Factor Receptor 2 (TNFR 2) gene was studied as a second candidate gene for both SLE and RA. The results of our studies in SLE and RA patients and controls from Sweden and Mexico do not support the association of the polymorphism TNFR 2 M196R with these diseases. Other polymorphisms in this gene and other genes in this region should therefore be studied.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2004. 50 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1333
Genetics, complex diseases, autoimmune diseases, genetic mapping, functional studies, Genetik
National Category
Medical Genetics
urn:nbn:se:uu:diva-4138 (URN)91-554-5918-8 (ISBN)
Public defence
2004-04-29, Rudbecksalen, Rudbecklaboratoriet, Dag Hammarskjöld väg, 20, Uppsala, 13:15
Available from: 2004-04-08 Created: 2004-04-08Bibliographically approved

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