Abstract

Background Toll-like receptors (TLRs) have been suggested to be associated with the development of AITD. Methods Fifteen single-nucleotide polymorphisms in 7 TLR 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 TLR4 rs1927911 C allele than control. TAO showed a lower frequency of the TLR4 rs1927911 CT genotype and non-TAO showed a higher frequency of the TLR4 rs1927911 CC genotype than control. The frequency of the TLR9 rs187084 CC genotype in TAO was higher than that in non-TAO. GD females showed a higher frequency of the TLR4 rs10759932 T allele, rs1927911 CC genotype, and the rs1927911 C allele than controls. GD males showed a higher frequency of the TLR4 rs10759932 CC genotype and rs1927911 TT genotype and lower frequency of the rs1927911 CT genotype than control. The frequency of the TLR4 rs10759932 CC genotype, C allele and rs1927911 TT genotype, and T allele in a GD female were lower than in a GD male. Conclusions Our results suggest that TLR4 and 9 polymorphisms might contribute to the pathogenesis of GD and TAO.

Highlights

  • It has been suggested that autoimmune thyroid disease (AITD) may occur when genetically susceptible individuals are exposed to environmental triggers such as infection, iodine, and stress [1]

  • We investigated the potential associations of seven Toll-like receptors (TLRs) genes (TLR1, 2, 3, 4, 5, 6, and 9) including 15 single-nucleotide polymorphisms (SNP) with AITD in Korean children

  • When AITD were categorized by the disease subgroup, Graves’ disease (GD) showed higher frequencies of TLR4 rs1927911 C allele (OR = 1.56; 95% CI, 1.0–2.4, P = 0 046) than those by the control group (Table 3)

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Summary

Background

Toll-like receptors (TLRs) have been suggested to be associated with the development of AITD. GD showed higher frequencies of the TLR4 rs1927911 C allele than control. TAO showed a lower frequency of the TLR4 rs1927911 CT genotype and non-TAO showed a higher frequency of the TLR4 rs1927911 CC genotype than control. The frequency of the TLR9 rs187084 CC genotype in TAO was higher than that in non-TAO. GD females showed a higher frequency of the TLR4 rs10759932 T allele, rs1927911 CC genotype, and the rs1927911 C allele than controls. GD males showed a higher frequency of the TLR4 rs10759932 CC genotype and rs1927911 TT genotype and lower frequency of the rs1927911 CT genotype than control. The frequency of the TLR4 rs10759932 CC genotype, C allele and rs1927911 TT genotype, and T allele in a GD female were lower than in a GD male. Our results suggest that TLR4 and 9 polymorphisms might contribute to the pathogenesis of GD and TAO

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