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 Association of IL-1β, NLRP3, and COX-2 Gene Polymorphisms with Autoimmune Thyroid Disease Risk and Clinical Features in the Iranian Population

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Zahra Heidari ◽  
Saeedeh Salimi ◽  
Mohsen Rokni ◽  
Mahnaz Rezaei ◽  
Neshat Khalafi ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Clinical Features ◽  
Significant Relationship ◽  
Thyroid Disease ◽  
Gene Polymorphisms ◽  
Autoimmune Thyroid Disease ◽  
Control Group ◽  
Autoimmune Thyroid ◽  
Cox 2 ◽  
Development Risk

Background. Grave’s disease (GD) and Hashimoto’s thyroiditis (HT) are autoimmune diseases of the thyroid gland in which genetic predisposition plays a major role in their development. Currently, the role of NLRP3 inflammasome and COX-2 has been documented in many autoimmune diseases. The purpose of the study is to delineate the impact of IL-1β (rs1143634), NLRP3 (rs3806265), and COX-2 (rs2745557) gene polymorphisms in the development of GD and HT. Methods. A total of 256 newly diagnosed patients with autoimmune thyroid disease (135 patients with HT and 121 GD patients) as case groups and 145 controls were included in the study. Results. Recessive and overdominant models showed a significant association between IL-1β rs1143634 SNP and HT development risk. The frequency of TT genotype and T allele of IL-1β rs1143634 SNP in the control group was significantly higher than the GD group. There was no significant association between NLRP3 rs3806265 polymorphism and HT and GD development. The frequency of GA genotype of COX-2 (rs2745557) in the control group was significantly higher than that in the HT group. There was no significant association between COX-2 rs2745557 genotypic and allelic distribution and GD development risk. The results revealed a significant relationship between some clinical features of HT and GD groups and SNPs studied. Conclusion. The results manifest the significant impact of IL-1β rs1143634 and COX-2 (rs2745557) SNPs and HT development and IL-1β rs1143634 SNP on GD occurrence risk. Furthermore, a significant relationship was observed between some clinical features of HT and GD groups and studied SNPs.

Increases of CD80 and CD86 Expression on Peripheral Blood Cells and their Gene Polymorphisms in Autoimmune Thyroid Disease

2019 ◽  
Vol 49 (1-2) ◽  
pp. 191-203 ◽  
Author(s):  
Ayano Watanabe ◽  
Naoya Inoue ◽  
Mikio Watanabe ◽  
Mayu Yamamoto ◽  
Haruka Ozaki ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Thyroid Disease ◽  
Blood Cells ◽  
Gene Polymorphisms ◽  
Autoimmune Thyroid Disease ◽  
Peripheral Blood Cells ◽  
Autoimmune Thyroid

scholarly journals The genetic association between TLR-1, -2, -4, and -6 gene polymorphisms and rheumatoid arthritis (RA) susceptibility in a Chinese Han population

2020 ◽  
Author(s):  
Yuqin Peng ◽  
Bingqian Chen ◽  
Xiaowen Sheng ◽  
Yufeng Qian
Keyword(s):  
Gene Polymorphisms ◽  
Direct Sequencing ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Toll Like Receptor ◽  
Genetic Associations ◽  
Chinese Han ◽  
Han Population ◽  
Sequencing Method ◽  
Direct Sequencing Method

Abstract Background: The toll-like receptor (TLR) genes were shown to be involved in the pathogenesis of RA. We aimed to investigate the genetic associations between the TLR-1, -2, -4, and -6 genes polymorphisms and RA susceptibility in a Chinese Han population. Methods : Six polymorphisms (TLR-1 (rs5743610, rs5743618), -2 (rs5743708), -4 (rs4986790, rs4986791), and -6 (rs5743810)) in TLRs genes were genotyped in 360 patients with RA and 560 matched healthy controls by using direct sequencing method. The ORs and 95% CIs were evaluated using a standard logistic regression analysis. Results : No significant association between the allelic, dominant and recessive models of TLR-1 rs5743618, TLR-2 rs5743708, TLR-4 rs4986790 and rs4986791, and TLR-6 rs5743810 polymorphisms and RA risk was observed (p>0.05). However, significant associations were detected between the allelic, dominant and recessive models of TLR-1 rs5743618 and RA risk (allelic: OR[95%CI]= 2.21 [1.73, 2.81], p<0.0001; dominant: OR[95%CI]= 2.33 [1.75, 3.09], p<0.0001; recessive models: OR[95%CI]= 3.70 [1.85, 7.41], p=0.0002), In addition, the TLR6 rs5743810 was found to be associated with the RF - and anti-CCP - antibody in RA group (RF: OR[95%CI]= 2.29 [1.42, 3.69], p=0.0007; anti-CCP: OR[95%CI]= 2.33 [1.39, 3.89], p=0.001). Conclusions : The allelic, dominant, and recessive models of TLR1 rs5743618 might be associated with RA susceptibility. And the TLR6 rs5743810 might be associated with RF and anti-CCP antibody in RA in Chinese Han population.

scholarly journals No association of two Fas gene polymorphisms with Hashimoto's thyroiditis and Graves' disease

2003 ◽  
pp. 393-396 ◽  
Author(s):  
BJ Stuck ◽  
MA Pani ◽  
F Besrour ◽  
M Segni ◽  
M Krause ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Genetic Risk ◽  
Hashimoto’S Thyroiditis ◽  
Gene Polymorphisms ◽  
Autoimmune Thyroid Disease ◽  
Fas Ligand ◽  
Hashimoto's Thyroiditis ◽  
Graves Disease ◽  
Autoimmune Thyroid ◽  
Hla Dq

BACKGROUND: Apoptosis is a joint pathogenic process underlying autoimmune thyroid disease. Increased programmed cell death in thyrocytes causes hypothyroidism in Hashimoto's thyroiditis, whereas in Graves' disease infiltrating lymphocytes undergo apoptosis while thyrocytes appear to proliferate under protection of anti-apoptotic signals. The Fas/Fas ligand cascade represents a major pathway initiating apoptosis. Its role in autoimmunity is well studied and genetic polymorphisms in gene loci of Fas and its ligand have been shown to be associated with autoimmune diseases. OBJECTIVE: Due to the functional relevance of the Fas pathway in autoimmune thyroid disease we were interested in the possible contribution of polymorphisms in the Fas gene to the genetic risk of thyroid autoimmunity, which so far is mainly, but incompletely, attributed to the HLA DQ region and polymorphisms in the CTLA-4 gene. DESIGN: We genotyped Caucasian families with at least one offspring affected by Hashimoto's thyroiditis (n=95) and Graves' disease (n=109) for two Fas gene polymorphisms (g-670 G-->A in the promoter region, g-154 C-->T in exon 7). METHODS: Extended transmission disequilibrium and chi(2) testing were performed. RESULTS: Neither polymorphism alone (P=0.44 and P=0.70) nor the promoter/exon 7 haplotypes (P=0.86) were associated with Hashimoto's thyroiditis. No association with Graves' disease was observed for the promoter polymorphism (P=0.91) and exon 7 (P=0.65) or the promoter/exon 7 haplotypes (P=0.80). CONCLUSION: In summary, our data do not suggest any significant contribution of common genetic Fas variants to the genetic risk of developing Hashimoto's thyroiditis or Graves' disease.

Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis

2017 ◽  
Vol 26 (3) ◽  
pp. 245-252 ◽  
Author(s):  
Aleksander Kuś ◽  
Magdalena Arłukowicz Grabowska ◽  
Konrad Szymański ◽  
Ewa Wunsch ◽  
Małgorzata Milkiewicz ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Clinical Course ◽  
Assay Method ◽  
Enzyme Linked Immunosorbent Assay ◽  
Primary Biliary Cholangitis ◽  
Thyroid Peroxidase ◽  
Genome Wide Association Studies ◽  
Autoimmune Thyroid

Background & Aims: Patients with primary biliary cholangitis (PBC) frequently suffer from extrahepatic autoimmune conditions, of which autoimmune thyroid disease (AITD) is one of the most common. Previous studies identified several genetic variants increasing the odds of developing AITD. Here we investigate whether AITD-associated polymorphisms might also play a role in the development and clinical course of PBC and PBC associated with AITD (PBC-AITD).Methods: To this end, we prospectively recruited 230 patients with PBC and 421 healthy controls. Among recruited patients, 64 (30.9%) had PBC-AITD as diagnosed by elevated serum TPO-antibodies. In all subjects we genotyped 10 variants previously associated with AITD.Results: We detected significant associations between the PTPN22 polymorphism and risk of developing PBC (rs2476601, OR=1.43, P=0.035) as well as PBC-AITD (OR=1.74, P=0.028). The IL2RA polymorphism was associated with liver cirrhosis (rs41295061, OR=1.76, P=0.033) whereas the MMEL1 polymorphism increased the risk of requiring liver transplantation (rs2843403, OR=1.70, P=0.023). Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants.Conclusion: Our study demonstrates the existence of a genetic overlap between PBC and AITD. Apparently, genetic variants known to increase the AITD risk might affect the clinical course of PBC. On the other hand, AITD per se does not seem to significantly influence the natural history of PBC.Abbreviations: AITD: autoimmune thyroid disease; ALP: alkaline phosphatase; ALT: alanine transaminase; AMA: anti-mitochondrial autoantibodies; AST: aspartate aminotransferase; DM1: diabetes mellitus type 1; ELISA: enzyme-linked immunosorbent assay method; GGT: gamma-glutamyl transpeptidase; GD: Graves’ disease; GWAS: genome-wide association studies; HT: Hashimoto thyroiditis; HWE: Hardy-Weinberg equilibrium; Lyp: lymphoid-specific protein tyrosine phosphatase non-receptor type 22; OR: odds ratio; PBC: primary biliary cholangitis; RA: rheumatoid arthritis; SLE: systemic lupus erythematosus; TPOAb: thyroid peroxidase antibody; UDCA: ursodeoxycholic acid.

Lack of association of IRF5 gene polymorphisms with autoimmune thyroid disease: A case-control study. IRF5 gene and AITD

2014 ◽  
Vol 75 (1) ◽  
pp. 19-24
Author(s):  
Fatuma-Said Muhali ◽  
Zhen Zhou-jiao ◽  
Yuan Wang ◽  
Qiong Wang ◽  
Xiao-hong Shi ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Gene Polymorphisms ◽  
Autoimmune Thyroid Disease ◽  
Case Control Study ◽  
Case Control ◽  
Autoimmune Thyroid ◽  
Control Study
Sign in / Sign up

Export Citation Format

Share Document