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    Diabet Med. 2007 Dec;24(12):1473-7.

    No evidence of association of the PDCD1 gene with Type 1 diabetes.

    Asad S, Nikamo P, Törn C, Landin-Olsson M, Lernmark A, Alarcón-Riquelme M, Kockum I; Diabetes Incidence in Sweden Study Group.

    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

    Erratum in:

    • Diabet Med. 2008 Feb;25(2):243. Fawwaz, S [corrected to Asad, S].

    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.

    PMID: 18042085 [PubMed - indexed for MEDLINE]

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