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

Young Ho Lee, Gwan Gyu Song

Research output: Contribution to journalArticlepeer-review

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


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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


Dive into the research topics of 'Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and Type 1 diabetes'. Together they form a unique fingerprint.

Cite this