Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves disease (GD) and Hashimotos thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass and obesity-associated (FTO) gene polymorphisms on AITDs in children remain unclear.
Objective and hypotheses: To identify the association between polymorphisms of CTLA4, PADI4 and FTO genes and Graves disease (GD) and Hashimotos thyroiditis (HT) prognosis in male children.
Method: The study was performed in 145 patients with GD, 57 with HT and 160 healthy volunteers. The three single nucleotide polymorphisms (SNPs): rs231775 CTLA4, rs1748033 PADI4 and rs6499640 FTO were genotyped by TaqMan SNP genotyping assay using the real-time PCR.
Results: Rs231775 G alleles were more frequent in HT male patients in comparison to healthy males (P=0.008 with OR=3). Rs1748033 C alleles were more frequent in HT male patients in comparison to healthy males (P=0.032 with OR=3,4). Rs6499640 A alleles were more frequent in GD male patients in comparison to healthy males (P=0.044, OR=2).
Conclusion: Rs231775 G/A, Rs1748033 C/T and Rs6499640 A/G polymorphisms could contribute to development of AITDs in male children. The main risk factor for rs231775 is G allele and for rs1748033 is C allele. In case of rs6499640 the main risk factor is allele A.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology