Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and type 1 diabetes.
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.
Division of Rheumatology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, 126-1, Anam-dong 5-ga, Seongbuk-gu, Seoul 136-705, Korea. lyhcgh@korea.ac.kr
Young Ho
YH
Lee
Gwan Gyu
GG
Song
D000483:Alleles; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005190:Family; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D017594:Publication Bias; D044465:White People / Q000235:genetics
C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22