自身免疫性甲状腺疾病（AITDs）包括Graves病（GD）和桥本甲状腺炎（HT）以及1型糖尿病（T1D）是儿童常见的自身免疫性疾病。许多基因参与免疫系统的调节，它们的多态性可能易患自身免疫性疾病的发展。根据文献报道,IL2RA(白细胞介素2受体α亚基)的编码基因,IFIH1（干扰素诱导的解旋酶C结构域1）和CTLA-4（细胞毒性T细胞抗原4）可能与自身免疫性疾病的发病机制有关。该研究的目的是评估IL2RA的选定单核苷酸多态性（SNP）的关联，波兰AITDs儿童和T1D儿童中的IFIH1和CTLA-4基因。我们分析了IL2RA区域（rs7093069）中的单核苷酸多态性（SNPs），IFIH1区(rs1990760)和CTLA-4区(rs231775)在波兰儿童和青少年组患有1型糖尿病(n=194)和本身免疫性甲状腺疾病(GDn=170,HTn=81)和安康年纪和性别相配的对比组(n=110)中的比较。在T1D患者和对照组之间，IL2RA（rs7093069T>C）和CTLA-4（rs231775G>A）的等位基因存在显着差异。此外,研究显示,IL2RA位点的T/T基因型(rs7093069)和CTLA-4位点的G/G基因型(rs231775)在T1D患儿中更常见.此外，T1D患者IFIH1基因座的基因型C/T和T/T（rs1990760）明显高于对照组。我们在分析的SNP中观察到AITD患者和对照组之间没有显着差异。总之,我们检测到IL2RA基因座rs7093069SNP的每个等位基因T和CTLA-4基因座rs231775SNP的G等位基因以及IFIH1基因座rs1990760SNP的C/T和T/T基因型在T1D发育方面具有易感。因此，我们确认IL2RA,IFIH1和CTLA-4基因位点在T1D易感性中起作用。对所选SNP的分析显示，在一组波兰儿童和青少年中与AITD无关。
Autoimmune thyroid diseases (AITDs) which include Graves\' disease (GD) and Hashimoto\'s thyroiditis (HT) as well as type 1 diabetes (T1D) are common autoimmune disorders in children. Many genes are involved in the modulation of the immune system and their polymorphisms might predispose to autoimmune diseases development. According to the literature genes encoding IL2RA (alpha subunit of Interleukin 2 receptor),
IFIH1 (Interferon induced with helicase C domain 1) and CTLA-4 (cytotoxic T cell antigen 4) might be associated with autoimmune diseases pathogenesis. The aim of the
study was to assess the association of chosen single nucleotide polymorphisms (SNPs) of IL2RA,
IFIH1, and CTLA-4 genes in the group of Polish children with AITDs and in children with T1D. We analyzed single nucleotide polymorphisms (SNPs) in the IL2RA region (rs7093069), IFIH1 region (rs1990760) and CTLA-4 region (rs231775) in group of Polish children and adolescents with type 1 diabetes (n = 194) and autoimmune thyroid diseases (GD n = 170, HT n = 81) and healthy age and sex matched controls for comparison (n = 110). There were significant differences observed between T1D patients and control group in alleles of IL2RA (rs7093069 T > C) and CTLA-4 (rs231775 G > A). In addition, the
study revealed T/T genotype at the IL2RA locus (rs7093069) and G/G genotype at the CTLA-4 locus (rs231775) to be statistically significant more frequent in children with T1D. Moreover, genotypes C/T and T/T at the IFIH1 locus (rs1990760) were significantly more frequent in patients with T1D than in controls. We observed no significant differences between AITD patients and a control group in analyzed SNPs. In conclusion, we detected that each allele T of rs7093069 SNP at the IL2RA locus and G allele of rs231775 SNP at the CTLA-4 locus as well as C/T and T/T genotypes of rs1990760 SNP at the IFIH1 locus are predisposing in terms of T1D development. Thereby, we confirmed that IL2RA,
IFIH1, and CTLA-4 gene locus have a role in T1D susceptibility. The analysis of selected SNPs revealed no association with AITDs in a group of Polish children and adolescents.
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