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No evidence of association of the PDCD1 gene with Type 1 diabetes
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2007 (English)In: Diabetic Medicine, ISSN 0742-3071, E-ISSN 1464-5491, Vol. 24, no 12, 1473-1477 p.Article in journal (Refereed) Published
Abstract [en]

Aims: To test the association between the immunoreceptor PD-1 (PDCD1) gene and Type 1 diabetes mellitus (T1DM). This gene has been reported to be associated with other autoimmune diseases such as systemic lupus erythematosus (SLE) as well as T1DM. Methods: Genotyping of single nucleotide polymorphisms (SNPs) in the PDCD1 gene was performed using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP), pyrosequencing and TaqMan in two separate cohorts of Swedish patients and control subjects: a family study consisting of 184 multiplex and eight simplex families and a case-control study consisting of 586 patients and 836 control subjects. Three SNPs were genotyped: PD-1 7146, PD-1 7785 and PD-1 8738. Results: We did not detect any association or linkage between SNPs in PDCD1 and T1DM. We further performed a meta-analysis for association of PD-1 7146, PD-1 7785 and PD-1 8738 to T1DM. We detected heterogeneity in association with weak evidence for overall association. Conclusions: We conclude that PDCD1 is unlikely to be a major susceptibility gene for T1DM.

Place, publisher, year, edition, pages
2007. Vol. 24, no 12, 1473-1477 p.
Keyword [en]
association, autoimmunity, PDCD1, Type 1 diabetes
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-12899DOI: 10.1111/j.1464-5491.2007.02297.xISI: 000251250200026PubMedID: 18042085OAI: oai:DiVA.org:uu-12899DiVA: diva2:40669
Available from: 2008-06-02 Created: 2008-06-02 Last updated: 2011-01-14Bibliographically approved

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Alarcón-Riquelme, Marta
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Department of Genetics and Pathology
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