Dataset Information

Association of Polymorphisms in Toll-Like Receptors 4 and 9 with Autoimmune Thyroid Disease in Korean Pediatric Patients.

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.

SUBMITTER: Cho WK

PROVIDER: S-EPMC5585642 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Association of Polymorphisms in <i>Toll-Like Receptors 4</i> and <i>9</i> with Autoimmune Thyroid Disease in Korean Pediatric Patients.

Cho Won Kyoung WK Jang Jung-Pil JP Choi Eun-Jeong EJ Ahn Moonbae M Kim Shin Hee SH Cho Kyoung Soon KS Park So Hyun SH Baek In Cheol IC Jung Min Ho MH Kim Tai-Gyu TG Suh Byung-Kyu BK

International journal of endocrinology 20170820

<h4>Background</h4><i>Toll-like receptors</i> (<i>TLRs</i>) have been suggested to be associated with the development of AITD.<h4>Methods</h4>Fifteen single-nucleotide polymorphisms in 7 <i>TLR</i> 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.<h4>Results</h4>GD showed higher frequencies of the <i>TLR4 rs1927911</i> C allele tha ...[more]

PMID: 28912808

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Project description:BackgroundAlthough several studies have suggested single gene defects or variations in the genes associated with host immune response could confer differences in susceptibility to urinary pathogen invasion, no studies have examined the genetic polymorphisms in various toll-like receptors (TLRs) that activate innate immune responses in pediatric renal parenchymal infections of different clinical severities, namely acute pyelonephritis and the clinically more severe disease, acute lobar nephronia.MethodologyPatients who fulfilled the diagnostic criteria for acute pyelonephritis (APN) and acute lobar nephronia (ALN) without underlying diseases or structural anomalies, except for vesicoureteral reflux (VUR), were enrolled. Genotyping of the single nucleotide polymorphisms (SNPs) in the genes encoding TLR-1, TLR-2, TLR-4, TLR-5, and TLR-6 was performed by matrix-assisted laser desorption/ionization time-of-flight-based mini-sequencing analysis.Principal findingsA total of 16 SNPs were selected for genotyping. Analysis of 96 normal and 48 patients' samples revealed that only four SNPs had heterozygosity rates >0.01. These SNPs were selected for further investigation. Hardy-Weinberg equilibrium was satisfied for the observed genotype frequencies. Statistically significant differences in the genotype frequency of TLR-2 (rs3804100, T1350C) between controls and ALN or (APN+ALN) combined group were identified using the recessive model with the correction for multiple-SNP testing. Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significantly reduced occurrence of the rare allele homozygote (CC+CC) in the no-VUR subgroup of APN and ALN cases.ConclusionsAs the inflammatory responses in ALN patients are more severe than those in APN patients (higher CRP levels, longer duration of fever after antibiotic treatment), these findings suggest that the genetic variant in TLR-2 (rs3804100, T1350C) may protect the host from severe urinary tract infections as ALN.

Dataset Information

Association of Polymorphisms in Toll-Like Receptors 4 and 9 with Autoimmune Thyroid Disease in Korean Pediatric Patients.

Publications

Association of Polymorphisms in <i>Toll-Like Receptors 4</i> and <i>9</i> with Autoimmune Thyroid Disease in Korean Pediatric Patients.

Similar Datasets

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