The Genetic Predisposition for Diffuse Euthyroid Goiter Development in Moscow Population

He aim of the study was to investigate the linkage of diffuse euthyroid goiter (DEG) in Moscow population to polymorphisms of TSHR (rs 3783949, alleles - A/C), NIS (rs 7250346, alleles - C/G), DUOX1 (rs2467825, alleles - A/G), DUOX2 (rs7171366, alleles - G/T), TPO (rs17091737, alleles - G/T). To approach the problem, the prevalence of these polymorphisms was estimated in two age- and sex-matched groups: in DEG patients (n = 100) and in the control group (n = 100). High risk DEG formation was found in patients with the following genotypes: GG and CG of NIS, OR = 2.07 (95% CI 1.18-3.64); AG and AA of DUOX1, OR = 1.92 (95% CI 1.08-3.39); TT of TPO, OR = 2.09 (95% CI 1.19-3.7). Low risk DEG formation was found in patients with the following genotypes: CC of NIS, OR = 0.48(95% CI 0.27-0.85); GG of DUOX1, OR = 0.52 (95% CI 0.29-0.92); GG and TG of TPO, OR = 0.48 (95% CI 0.27-0.83). No significant difference between genotypes prevalence of DUOX2 and TSHR in two comparable groups was observed. Our results provide the first confirmation of linkage of diffuse euthyroid goiter to polymorphisms of NIS, DUOX1 and TPO in Moscow population