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Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population

DOI: 10.1186/1471-2350-8-54

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A case-control was performed with 316 Spanish white T1D patients consecutively recruited and 554 healthy controls, all of them from the Madrid area. The PTPN22 C1858T SNP was genotyped in both patients and controls using a TaqMan Assay in a 7900 HT Fast Real-Time PCR System.We replicated for the first time in a Spanish population the association of the 1858T allele with an increased risk for developing T1D [carriers of allele T vs. CC: OR (95%) = 1.73 (1.17–2.54); p = 0.004]. Furthermore, this allele showed a significant association in female patients with diabetes onset before age 16 years [carriers of allele T vs. CC: OR (95%) = 2.95 (1.45–6.01), female patients vs female controls p = 0.0009]. No other association in specific subgroups stratified for gender, HLA susceptibility or age at onset were observed.Our results provide evidence that the PTPN22 1858T allele is a T1D susceptibility factor also in the Spanish population and it might play a different role in susceptibility to T1D according to gender in early-onset T1D patients.Type 1 diabetes (T1D) is an autoimmune disorder resulting from destruction of the insulin-producing β cells of the pancreas. T1D is a complex trait with both genetic and environmental factors contributing to the etiology of this disease. Several susceptibility loci involved in disease development have been identified and were consistently replicated in independent populations [1]. These efforts contribute to a better definition of the molecular pathways leading to increased T1D risk and this knowledge, in turn, may help in understanding the genetic basis of the disease. The MHC class II, the CTLA4 and the PTPN22 loci have all been proved important in the pathogenesis of autoimmunity globally considered, whereas the insulin gene is a disease-specific T1D predisposition locus. Most of the new general susceptibility loci identified in the past few years have a clear role in the modulation of T cell development and activation, indicating that


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