Molecular Biology Reports

, Volume 40, Issue 1, pp 211–215

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


DOI: 10.1007/s11033-012-2051-8

Cite this article as:
Lee, Y.H. & Song, G.G. Mol Biol Rep (2013) 40: 211. doi:10.1007/s11033-012-2051-8


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 (I2 = 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.


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

Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  1. 1.Division of Rheumatology, Department of Internal MedicineKorea University Anam Hospital, Korea University College of MedicineSeoulKorea