Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with type 1 diabetes in Croatians

Abstract In this case–control study the association between the PTPN22 1858T and CTLA-4 49G gene variants and T1D in Croatian population was examined. We found that distribution of PTPN22 C1858T and CTLA-4 A49G genotypes between T1D patient ( n = 102) and control ( n = 193) groups differ significantly ( p < 0.0001 and p = 0.012, respectively). Moreover, although the risk alleles of both SNPs are distributed more frequently in patients, the significant difference is observed only for PTPN22 1858T allele ( p < 0.0001). This is therefore the first evidence that analyzed gene variants contribute to T1D pathogenesis in Croatian population.