engleski

Association between HLA-DRB1 gene and type 1 diabetes with and without autoimmune thyroid disease in children, adolescents and young adults in the Croatian population

Objective: Co-occurrence of type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) is classified as autoimmune polyglandular syndrome type 3 (APS3v). Association of HLA-DRB1 polymorphisms with T1D is reported for various populations, whether it is not clear if the same genes are associated to APS3v. The aim of the study was to examine the HLA-DRB1 polymorphisms associated to T1D and APS3v in the Croatian population. Methods: The study included 161 unrelated patients (92 with T1D, 69 with APS3v) aged 1.1 to 25.8 years and 93 healthy unrelated individuals in the control group. All subjects were typed by Polymerase Chain Reaction - Sequence Specific Oligo Probes. Results: The DRB1*03 and DRB1*04 genes were significantly more frequent in T1D (P=0.006 and P< 0.001, respectively) and APS3v patients (P< 0.001, each) than in controls. The DRB1*11 and DRB1*15 genes were significantly less frequent among T1D patients (P< 0.001 and P=0.001, respectively), while the DRB1*07, DRB1*11, DRB1*12 and DRB1*13 genes were significantly less frequent among APS3v patients (P=0.017, P=0.006, P=0.022 and P=0.05, respectively) compared to controls. High-risk DRB1*03/DRB1*04 genotype (T1D 19.4% and APS3v 20.6%, P< 0.0001) and medium-risk DRB1*04/DRB1*X genotype (T1D 33.3%, P< 0.0001 and APS3v 30.9%, P=0.0004) were present with significantly higher frequency in both groups of patients compared to controls. The frequency of DRB1*15/DRB1*X genotype was significantly lower among T1D patients (P=0.014), than between APS3v patients and controls. Conclusion: Similarities found in susceptible HLA-DRB1*03 and DRB1*04 genes and protective DRB1*11 gene for T1D and APS3v, support the observation that genetic background is shared between these two diseases and is in concordance with previous reports. However, protective role of HLA-DRB1*07, DRB1*12 and DRB1*13 genes for APS3v found in our study needs to be confirmed in other investigations.

APS3v, HLA-DRB1 polymorphisms

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