Association of Polymorphisms in and with Autoimmune Thyroid Disease in Korean Pediatric Patients.

Background: () have been suggested to be associated with the development of AITD.

Methods: Fifteen single-nucleotide polymorphisms in 7 genes were analyzed in 104 Korean children (girls = 86, boys = 18) with AITD (Hashimoto disease (HD) = 44, Graves' disease (GD) = 60, thyroid-associated ophthalmopathy (TAO) = 29, and non-TAO = 31) with 183 controls.

Results: GD showed higher frequencies of the C allele than control. TAO showed a lower frequency of the CT genotype and non-TAO showed a higher frequency of the CC genotype than control. The frequency of the CC genotype in TAO was higher than that in non-TAO. GD females showed a higher frequency of the 4 T allele, CC genotype, and the C allele than controls. GD males showed a higher frequency of the CC genotype and TT genotype and lower frequency of the CT genotype than control. The frequency of the CC genotype, C allele and TT genotype, and T allele in a GD female were lower than in a GD male.

Conclusions: Our results suggest that and polymorphisms might contribute to the pathogenesis of GD and TAO.