Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and Type 1 diabetes

Young Ho Lee, Gwan Gyu Song

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    9 Citations (Scopus)


    The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to type 1 diabetes (T1D). We conducted a meta-analysis of the transmission disequilibrium test (TDT) examining preferential transmission of the T allele of the PTPN22 C1858T polymorphism to children with T1D. A total of 11 studies were included in this meta-analysis, which contained 3,946 families and 2,024 transmissions of the PTPN22 T allele in 11 European populations. The frequencies of the transmitted and non-transmitted T allele were 1,250 (61.8%) and 774 (38.2%), respectively. The T allele was transmitted to T1D offspring more often than expected. Meta-analysis showed a significant association between the PTPN22 T allele and T1D (OR 1.611, 95% CI 1.421, 1.827, p<1×10-8) without between-study heterogeneity (I 2=32.5, p=0.138). Publication bias was observed in this meta-analysis (Egger's regression test, p-values=0.061), but the adjusted OR calculated using the trim and fill technique remained significant (OR 1.577, 95% CI 1.392, 1.785). This meta-analysis of TDT confirms that the PTPN22 C1858T polymorphism is associated with T1D susceptibility in Europeans.

    Original languageEnglish
    Pages (from-to)211-215
    Number of pages5
    JournalMolecular biology reports
    Issue number1
    Publication statusPublished - 2013 Jan

    Bibliographical note

    Funding Information:
    Acknowledgments This study was supported by a grant from the Korea University Medical Center.


    • Meta-analysis
    • Polymorphism
    • Protein tyrosine phosphatase nonreceptor 22
    • Type 1 diabetes

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics


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