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Polymorphisms in the Interferon Regulatory Factor 5 Gene are Associated with Anti-cyclic Citrullinated Peptide Antibody Negative Rheumatoid Arthritis
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
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2012 (English)Article in journal (Refereed) Submitted
Place, publisher, year, edition, pages
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-94316OAI: oai:DiVA.org:uu-94316DiVA: diva2:168125
Available from: 2006-04-20 Created: 2006-04-20 Last updated: 2012-04-13Bibliographically approved
In thesis
1. Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases
Open this publication in new window or tab >>Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases
2006 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. We developed a novel multiplexed method for SNP genotyping based on four-color fluorophore tag-microarray minisequencing. This method allows simultaneous genotyping of 80 samples and up to 200 SNPs in any allele combination. In study I we set up the method for a panel of SNPs from genes in the type I interferon system, and applied it in study III. In study II we used the technique to genotype SNPs from the coding region of the mitochondrial genome. A panel of 150 SNPs was genotyped in 265 individuals representing nine different populations. We demonstrated that the multiplexed SNP genotyping method for mitochondrial DNA increases the power of forensic identification in combination with sequencing of the hypervariable region of mitochondrial DNA.

In study III we performed a genetic association study of SNPs in genes related to the type I Interferon system in Systemic Lupus Erythematosus (SLE). SLE is a chronic autoimmune inflammatory disease with a complex etiology. The SNPs were genotyped in DNA samples from Swedish, Finnish, and Icelandic patients with SLE, unaffected family members, and unrelated controls. The analysis identified SNPs in two genes, the tyrosine kinase 2 (TYK2) and interferon regulatory factor 5 (IRF5) genes that are highly associated with SLE with p-values <10-7 for joint linkage and association.

Study IV describes the analysis of the TYK2 and IRF5 SNPs in a large Rheumatoid Arthritis (RA) sample cohort. We found that SNPs in the IRF5 gene were significantly associated with RA with a p-value = 0.00008. In contrast, we did not detect an association with SNPs in the TYK2 gene. These findings demonstrate that SLE and RA may have a common genetic background in the case of IRF5, while the TYK2 variants appear to be unique for SLE.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2006. 82 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 138
Molecular medicine, Minisequencing, SNP, Microarray, Polymorphism, Mitochondria, Systemic Lupus Erythematosus, Rheumatoid Arthritis, Association study, Type I interferon, Genotyping, Molekylärmedicin
urn:nbn:se:uu:diva-6792 (URN)91-554-6532-3 (ISBN)
Public defence
2006-05-11, Rudbecksalen, Rudbecklaboratoriet, Dag Hammarskjöldsväg 20, Uppsala, 13:15
Available from: 2006-04-20 Created: 2006-04-20Bibliographically approved

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Syvänen, Ann-Christine
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