scholarly journals Association of MICA Alleles with Autoimmune Thyroid Disease in Korean Children

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Won Kyoung Cho ◽  
Min Ho Jung ◽  
So Hyun Park ◽  
In Cheol Baek ◽  
Hee-Baeg Choi ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Healthy Controls ◽  
Complex Class ◽  
Related Gene ◽  
Korean Children ◽  
Autoimmune Thyroid ◽  
Histocompatibility Complex ◽  
Thyroid Associated Ophthalmopathy ◽  
Nkg2d Receptor

Background. Major histocompatibility complex class I chain-related gene A (MICA) is a ligand for the activating NKG2D receptor expressed on natural killer (NK) cells. We aimed to assess the association of MICA polymorphism with autoimmune thyroid disease (AITD) in Korean children.Methods. Eighty-one patients with AITD were recruited. We analyzed MICA polymorphisms by PCR-SSP and compared the results with those of 70 healthy controls.Results. In AITD, the allele frequencies of MICA*010 (OR=2.21; 95% CI, 1.30–3.76,P<0.003,Pc<0.042) were higher than those of controls. Patients who did not have thyroid-associated ophthalmopathy showed higher frequencies of MICA*010 (OR=2.99; 95% CI, 1.47–6.08,P<0.003,Pc<0.042) and lower frequencies of MICA*008 (OR=0.08; 95% CI, 0.01–0.62,P<0.001,Pc<0.014) compared to those of controls. HLA-B*46, which shows the strongest association with AITD compared with other HLA alleles, showed the strongest linkage disequilibrium with MICA*010. Analyses of the associations between MICA*010 and HLA-B*46 with AITD suggest an association of the MICA allele with AITD.Conclusions. Our results suggest that innate immunity might contribute to the pathogenesis of AITD.

scholarly journals SUN-724 Associations of GPR174 and ITM2A Genes on X Chromosome with Early Onset Autoimmune Thyroid Disease in Korean

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nayeong Lee ◽  
Wonkyoung Cho ◽  
Hyeri Shin ◽  
Yoonji Lee ◽  
Seulki Kim ◽  
...  
Keyword(s):  
X Chromosome ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Nucleotide Polymorphisms ◽  
Autoimmune Thyroid Diseases ◽  
Single Nucleotide ◽  
Korean Children ◽  
Autoimmune Thyroid ◽  
Thyroid Associated Ophthalmopathy ◽  
Immune Related Genes

Abstract Background: Autoimmune thyroid diseases (AITDs) are female predominant and the biology of sexual dimorphism is not clearly understood. Recently, GPR174 and ITM2A on X chromosome have been newly suggested as autoimmune thyroid disease susceptible loci. Methods: Fourteen single nucleotide polymorphisms in immune related genes on X chromosome were analyzed in 108 Korean children (girls =90, boys =18) with AITD [Hashimoto disease (HD) = 40, Graves′ disease (GD) = 68, thyroid-associated ophthalmopathy (TAO) = 37, and non-TAO =60] with gender ratio matched normal control 106 controls (female = 43, male = 63). Results: In AITD, the frequencies of GPR174 rs3810711 T allele (OR=6.0, cP =0.000), GRP174 rs3827440 T allele (OR=6.0, cP =0.000), ITM2A-GPR174 rs5912838 A allele (OR=2.7, cP =0.001) were increased and of GPR174 rs3810711 CC genotype (OR=0.2, cP =0.000), GRP174 rs3827440 CC genotype (OR=0.2, cP =0.000), ITM2A-GPR174 rs5912838 CC genotype (OR=0.4, cP =0.000)were lower than controls. In GD, the frequencies of GPR174 rs3810711 T allele (OR=8.4, cP =0.000), GRP174 rs3827440 T allele (OR=8.4, cP =0.000), ITM2A-GPR174 rs5912838 A allele (OR=3.3, cP =0.000) were increased and GPR174 rs3810711 CC genotype (OR=0.1, cP =0.000), C allele (OR=0.5, cP =0.044), GRP174 rs3827440 CC genotype (OR=0.2, cP =0.000), C allele (OR=0.5, cP =0.044), ITM2A-GPR174 rs5912838 CC genotype (OR=0.4, cP =0.000) were lower than controls. In HD, the frequencies of GPR174 rs3810711 T allele (OR=3.9, cP =0.003), GRP174 rs3827440 T allele(OR=3.9, cP =0.003) were increased and GPR174 rs3810711 CC genotype (OR=0.3, cP =0.004), rs3827440 CC genotype (OR=3.9, cP =0.003) were lower than controls. In thyroid-associated ophthalmopathy, the frequencies of GPR174 rs3810711 T allele (OR=7.9, cP =0.000), GRP174 rs3827440 T allele (OR=7.9, cP =0.000), ITM2A-GPR174 rs5912838 A allele (OR=3.1, cP =0.001) were increased and of GPR174 rs3810711 CC genotype (OR=0.1, cP =0.000), GRP174 rs3827440 CC genotype (OR=0.1, cP =0.000), ITM2A-GPR174 rs5912838 CC genotype (OR=0.3, cP =0.014)were lower than controls. Conclusions. Our results suggest that polymorphisms of GPR174 and ITM2A genes on X chromosome might contribute to the pathogenesis of AITD.

scholarly journals Variants of Interleukin-22 Gene Confer Predisposition to Autoimmune Thyroid Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Rong-hua Song ◽  
Qian Li ◽  
Wen Wang ◽  
Qiu-ming Yao ◽  
Xiao-qing Shao ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Thyroid Disease ◽  
Gene Polymorphisms ◽  
Autoimmune Thyroid Disease ◽  
Direct Sequencing ◽  
Autoimmune Thyroid ◽  
Interleukin 22 ◽  
Sequencing Method ◽  
Thyroid Associated Ophthalmopathy ◽  
Direct Sequencing Method

As there are no previous studies on the interleukin-22 (IL-22) variants in autoimmune thyroid disease (AITD), the present study aimed to explore the association between polymorphisms of IL-22 and the predisposition to AITD. The study had 975 AITD patients, including 639 Graves’ disease (GD) and 336 Hashimoto’s thyroiditis (HT) individuals and 851 healthy cohorts. Ligase detection reaction (LDR) and direct sequencing method were used for genotyping the IL-22 gene polymorphisms at rs2046068, rs2227478, rs2227485, rs11611206, and rs1179251. In comparison to female controls, genotype CC of rs1179251 was increased in the female AITD patients. Alleles C at rs2046068, C at rs2227478, and C at rs1179251 linked to the susceptibility of HT males. Genotype CC in rs1179251 was higher in male HT. Variants at rs2046068, rs2227478, and rs1179251 were associated with the AITD teenagers. Besides, genotype GG in rs11611206 was correlated with thyroid-associated ophthalmopathy (TAO). Moreover, allele G at rs11611206 was associated with decreased risk for TAO by 28.9%. Similarly, genotype CC of rs1179251 and genotype GG of rs11611206 were associated with Graves’ ophthalmopathy (GO). Allele G in rs11611206 increased people with HT towards the predisposition of hypothyroidism. In conclusion, genetic variants of IL-22 are associated with the occurrence of AITD.

scholarly journals Autoimmune Thyroid Disease Correlates to Islet Autoimmunity on Zinc Transporter 8 Autoantibody: A Cross-Section Study

2020 ◽  
Author(s):  
Yun Cai ◽  
Jieni Yan ◽  
Yong Gu ◽  
Heng Chen ◽  
Qingfang Hu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Islet Autoantibodies ◽  
Islet Autoimmunity ◽  
Thyroid Autoantibodies ◽  
Healthy Controls ◽  
Autoimmune Thyroid ◽  
Relative Value

Abstract Background The most common coexisting organ-specific autoimmune disease in patients with Type 1 diabetes mellitus (T1DM) is autoimmune thyroid disease (AITD). Many studies have showed prevalence rate of thyroid autoantibodies range from 3.7-35% in T1DM patients, while some of them suggested the associations between thyroid autoantibodies and islet autoantibodies. However, little work has been done about the anti-islet autoimmune status in patients with autoimmune thyroid disease (AITD), and so far there have been no clinical report based on large population about zinc transporter 8 autoantibody (ZnT8A) in patients with AITD. We aimed to explore the presence of islet autoantibodies, ZnT8A, glutamic acid decarboxylase autoantibodies (GADA) and tyrosine phosphatase autoantibodies (IA-2A) compared with thyroid autoantibodies, thyroid peroxidase autoantibodies (TPOAb) and thyroglobulin autoantibodies (TGAb) and thyrotropin receptor autoantibodies (TRAb) in AITD patients. Methods In total 740 AITD patients, 108 type 1 diabetes mellitus (T1DM) patients with AITD, 172 non-autoimmune thyroid disease (nAITD) patients and 115 healthy controls were recruited in the cross-sectional study. Islet autoantibodies, ZnT8A, GADA, IA-2A and thyroid autoantibodies, TPOAb, TGAb, TRAb were detected with Radioimmunoassay and Chemiluminescence. Islet autoantibody relative value was established to compare the distribution of the three islet autoantibodies. Results The prevalence of ZnT8A and GADA in AITD group was significantly higher than that in healthy controls (ZnT8A: 15.00% vs 1.74%, GADA: 7.97% vs 0.87%, both P<0.05). Similarly, the prevalence of IA-2A in AITD group was higher than that in healthy controls (4.19% vs 0%, P<0.05). However, any islet autoantibodies positive rate in AITD group was significantly lower than that in T1DM with AITD group. Analysis of multivariable linear regression suggested that ZnT8A relative value was positively related with GADA relative value (β=0.352, P<0.01) and TPOAb titer (β=0.002, P<0.01), and GADA relative value was also positively related with ZnT8A relative value (β=0.183, P<0.01). Conclusions An increased prevalence of ZnT8A as well as a relatively high prevalence of islet autoimmunity was found in AITD patients, indicating that there is a potential link between thyroid autoimmunity and islet autoimmunity. Trial registration Retrospectively registered.

The role of hereditary and environmental factors in autoimmune thyroid diseases

2012 ◽  
Vol 153 (26) ◽  
pp. 1013-1022 ◽  
Author(s):  
Csaba Balázs
Keyword(s):  
Environmental Factors ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Autoimmunity ◽  
Thyroid Diseases ◽  
Thyroid Peroxidase ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Histocompatibility Complex

Autoimmune thyroid diseases are the most common organ-specific autoimmune disorders affecting 5% to 10% of the population in Western countries. The clinical presentation varies from hyperthyroidism in Graves’ disease to hypothyroidism in Hashimoto’s thyroiditis. While the exact etiology of thyroid autoimmunity is not known, the interaction between genetic susceptibility and environmental factors appears to be of fundamental importance to initiate the process of thyroid autoimmunity. The identified autoimmune thyroid disease susceptibility genes include immune-modulating genes, such as the major histocompatibility complex, and thyroid-specific genes, including TSH receptor, thyroglobulin and thyroid peroxidase. The majority of the anti-TSH-receptor antibodies have a stimulating capacity and are responsible for hyperthyroidism. The anti-thyroglobulin- and anti-thyroid peroxidase antibodies belonging to the catalytic type of antibodies destroy the thyrocytes resulting in hypothyroidism. The appearance of anti-thyroid peroxidase antibodies precedes the induction of thyroiditis and the manifestation of hypothyroidism. The molecular analysis of thyroglobulin gene polymorphism is important in the mechanism of autoimmune thyroiditis. The autoantigen presentation by major histocompatibility complex molecules is a key point of the autoimmune mechanism. It has been shown that a HLA-DR variant containing arginine at position 74 of the DRβ1 chain confers a strong genetic susceptibility to autoimmune thyroid diseases, Graves’ disease and Hashimoto’s thyroiditis, while glutamine at position DRβ1-74 is protective. Human thyroglobulin 2098 peptide represents a strong and specific DRβ1-Arg74 binder, while a non-binding control peptide, thyroglobulin 2766 fails to induce this response. Moreover, thyroglobulin 2098 stimulated T-cells from individuals who were positive for thyroglobulin antibodies, demonstrating that thyroglobulin 2098 is an immunogenic peptide capable of being presented in vivo and activating T-cells in autoimmune thyroid diseases. Taken together these findings suggest that thyroglobulin 2098, a strong and specific binder to the disease-associated HLA-DRβ1-Arg74, is a major human T-cell epitope and it participates in the pathomechanism of the autoimmune thyroid disease. The exact nature of the role of environmental factors in the autoimmune thyroid disease is still not well known, but the importance of several factors such as iodine, drugs and infections has been reported. Further knowledge of the precise mechanisms of interaction between environmental factors and genes in inducing thyroid autoimmunity could result in the development of new strategies for diagnosis, prevention and treatment. Orv. Hetil., 2012, 153, 1013–1022.

SERUM METABOLOMIC PATTERNS IN PATIENTS WITH AUTOIMMUNE THYROID DISEASE

2020 ◽  
Vol 26 (1) ◽  
pp. 82-96 ◽  
Author(s):  
Jia Liu ◽  
Jing Fu ◽  
Yumei Jia ◽  
Ning Yang ◽  
Jing Li ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Density Lipoprotein ◽  
Hashimoto Thyroiditis ◽  
Lipoprotein Cholesterol ◽  
Graves Disease ◽  
Model Assessment ◽  
Healthy Controls ◽  
Autoimmune Thyroid ◽  
Fasting Plasma

Objective: Autoimmune thyroid disease, including Graves disease (GD) and Hashimoto thyroiditis (HT), is one of the most common endocrine diseases. GD and HT are the main etiologies for hyperthyroidism and hypothyroidism, respectively. This study aimed to provide a metabolomic analysis of GD patients with hyperthyroidism and HT patients with hypothyroidism. Methods: This study investigated serum metabolomics in 43 GD patients with hyperthyroidism, 45 HT patients with hypothyroidism, and 52 age- and sex-matched healthy controls. The metabolomic data were analyzed by performing multivariate statistical analysis. Results: The 186 metabolites including amino acids, bile acids, free fatty acids, and lipids were identified in all participants. Multivariate models indicated systematic differences in the hyperthyroidism, hypothyroidism, and control groups. Compared to healthy controls, the 22 metabolites in the hyperthyroidism group and the 17 metabolites in the hypothyroidism group were significantly changed. Pathway analysis showed that hyperthyroidism had a significant impact on arginine and proline metabolism and aminoacyl-transfer ribonucleic acid biosynthesis, while hypothyroidism had a significant impact on alanine, aspartate, and glutamate metabolism. Conclusion: The serum metabolomic pattern changes in patients with autoimmune thyroid dysfunction. Abbreviations: BMI = body mass index; CA = cholic acid; CDCA = chenodeoxycholic acid; DCA = deoxycholic acid; FBG = fasting plasma glucose; FINS = fasting plasma insulin; FT3 = free triiodothyronine; FT4 = free thyroxine; GD = Graves disease; GDCA = glycodeoxycholic acid; HDL-C = high-density lipoprotein cholesterol; HOMA-IR = homeostasis model assessment of insulin resistance; HT = Hashimoto thyroiditis; LDL-C = low-density lipoprotein cholesterol; PC = phosphatidylcholine; PCA = principal component analysis; PLS-DA = partial least squares discriminant analysis; SM = sphingomyelin; TBA = total bile acid; TC = total cholesterol; TG = triglyceride; TSH = thyrotropin; VIP = variable influences on projection

scholarly journals Study of Autoantibodies and DQ Antigens in Patient with Celiac Disease

2020 ◽  
Author(s):  
Andleeb Zehra ◽  
. Usha ◽  
Richa Katiyar ◽  
Shailja Singh ◽  
Anju Bharti ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Protective Role ◽  
Healthy Controls ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Autoimmune Hypothyroidism ◽  
Hla Dq

Introduction: Celiac Disease (CD) is a chronic autoimmune mediated disorder triggered by the ingestion of gluten. It is seen in genetically predisposed person and results in small intestine injury. Its aetiopathogenesis is not clear. Simple histopathology is not able to diagnose the disease many times. Aim: Aim of present study was to assess the prevalence of HLA DQ alleles and autoantibodies in diagnosis of the disease and association of DQ antigens with Type 1 Diabetes mellitus (T1DM) and autoimmune hypothyroidism in CD patients. Materials and Methods: Total 100 cases of CD and 31 healthy controls were studied, within a period of January 2015 to Febuary 2016. Autoantibodies like ANA, anti-tTg, anti-TPO and anti-scl 70 were done by ELISA kits. HLA DQ typing was done in 44 cases of CD, 20 cases of CD with T1DM, 22 cases of CD with autoimmune thyroid disease and 31 healthy controls. HLA DQ typing was done by SSO hybridisation method by Mr. SPOT machine. Results: About 70% patients were children between 6 months to 20 years of age and female formed the maximum number of cases (60%). Anti-tTg ab was positive in all cases (100%), anti-Scl 70 Ab was positive in 25%, anti-TPO ab was found in 22% and ANA was positive in only 10% cases. Most frequent DQβ1 haplotype in CD were DQβ1*02:01 (45.5%, p<0.001) and DQβ1*02:02 (20.5%, p=0.007) while DQ*06:01 was significantly more common in controls suggesting its protective role. Among DQα1 typing DQα1*05:01 (45.5%, p<0.001) and DQα1*05:05 (40.9%, p<0.001) which were significantly more in CD than controls. Contrary to this DQα1*01:01, DQα1*01:03 and DQα1*01:04 were significantly reduced in CD patients. CD patients associated with T1DM and autoimmune thyroid disease had significantly more DQβ1 02:01, DQβ1*02:02, DQα1*05:01 and DQα1*05:05. Conclusion: CD is an autoimmune disease, DQ typing should be kept in diagnostic criteria of CD. Association of autoimmune thyroid diseases and T1DM in CD is due to common sharing of these DQ antigens suggesting its role in predisposing autoimmune diseases.

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

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Won Kyoung Cho ◽  
Jung-Pil Jang ◽  
Eun-Jeong Choi ◽  
Moonbae Ahn ◽  
Shin Hee Kim ◽  
...  
Keyword(s):  
Autoimmune Thyroid Disease ◽  
Pediatric Patients ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptors ◽  
Single Nucleotide ◽  
Korean Children ◽  
Autoimmune Thyroid ◽  
Hashimoto Disease ◽  
Thyroid Associated Ophthalmopathy ◽  
Genotype C

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.

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