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.

scholarly journals Immunological relationship between autoimmune liver disease and autoimmune thyroid disease:a cross-sectional study

2019 ◽  
Author(s):  
Qingmin Zeng ◽  
Min Gao ◽  
Chunyan Wang ◽  
Xu Han ◽  
Chen Chen ◽  
...  
Keyword(s):  
Liver Disease ◽  
Autoimmune Hepatitis ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Liver Disease ◽  
Primary Biliary Cholangitis ◽  
Thyroid Peroxidase ◽  
Cross Sectional ◽  
Autoimmune Thyroid ◽  
Immunological Relationship

Abstract Background: High prevalence of autoimmune thyroid disease (AITD) in patients with autoimmune liver disease (AILD) has been observed. Data on the clinical relationship between AILD and AILD remain scanty. We aimed to evaluate the immunological relationship between AILD and AITD. Results: 324 patients with AILD were enrolled, 113 out of 324 patients were concurrent AITD (34.9%). Patients with autoimmune hepatitis (AIH) were more likely to develop AITD (45.8%), followed by autoimmune hepatitis-primary biliary cholangitis overlap syndrome (AIH-PBC OS) (39.5%) and PBC (22.6%). AILD patients with concurrent AITD showed higher levels of IgG (21.5 g/L vs 16.3 g/L, P<0.0001) and gamma globulin (γ-globulin)(27.1% vs 21.9%, P<0.0001), and IgG were positively correlated with thyroid antibodies [thymoglobulinantibody (TGAb), thyroid peroxidase antibody (TPOAb)] (r=0.396, 0.322; P<0.0001, P=0.002, respectively). The frequency of TPOAb positivity was highest in PBC patients with concurrent AITD (83.9%). The AIH concomitant with AITD had a higher nuclear homogenizing antinuclear antibody (ANA) positivity compared with the AIH alone (P=0.019). PBC patients with concurrent AITD were significantly older than the PBC patients without AITD (P=0.0004). Thyroid dysfunction in AILD patients with concurrent AITD was principally characterized by Hashimoto's thyroiditis (65.5%) and diffuse lesions were mainly indicated in thyroid ultrasound (53.1%). Conclusions: The high incidence of AILD concomitant with AITD, as well as the higher levels of serum IgG and γ-globulin, and the strong correlation between thyroid antibody and IgG, suggesting that we should strengthen the screening of autoimmune thyroid disease when diagnosing and treating autoimmune liver disease.

Autoimmune thyroid disease in diabetic children and adolescents: a single center study from south Punjab

2021 ◽  
Vol 71 (7) ◽  
pp. 1804-1807
Author(s):  
Waqas Imran Khan ◽  
Erum Afzal ◽  
Sajjad Hussain
Keyword(s):  
Children And Adolescents ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Glycosylated Hemoglobin ◽  
Overt Hypothyroidism ◽  
Thyroid Peroxidase ◽  
Pediatric Endocrinology ◽  
Autoimmune Thyroid ◽  
Thyroid Peroxidase Antibody ◽  
Diabetic Children

Objective: To evaluate the prevalence of autoimmune thyroid disease (AITD) in diabetic children in south Punjab. Methods: This was an observational cross sectional study from Jan 2019 to Dec 2019 in the outpatient diabetic clinic of the department of pediatric endocrinology at Children Hospital and The Institute of Child Health Multan. A total of 161 consecutive patients of both genders with TIDM were enrolled in this study after taking informed consent. Blood samples for Thyroid functions testes including thyroid stimulating hormone (TSH), free thyroxin (fT4), Thyroid peroxidase antibody (TPO-Ab), thyroglobulin antibody (TG-Ab) and glycosylated hemoglobin (HbA1C) level were sent. Results: Among diabetic children males were 83 (51.6%). Age range was 2-15 years. Mean age and standard deviation was 9.7± 4.3. TPO-Ab was positive in 34 patients (21.1%) and TG-Ab in 27 patients (16.7%), whereas both antibodies were positive in 17 patients (10.5%). Six patients (3.7%) had evidence of subclinical hypothyroidism, 8 patients (4.9%) had overt hypothyroidism and 1 patient (0.62%) had hyperthyroidism Conclusion: The prevalence of AITD among children and adolescents with type 1 diabetes mellitus was 21.1% in our study. Hypothyroidism was more prevalent in these children compared to hyperthyroidism. All diabetic children should be screened for AITD. Thyroid functions should be checked where TPO antibody is positive. Keywords: Autoimmune thyroid disease, anti thyroid peroxidase antibody, anti thyroglobulin Continuous...

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 Frequent detection of thyroid peroxidase-specific IgG+ memory B cells in blood of patients with autoimmune thyroid disease

2002 ◽  
Vol 32 (11) ◽  
pp. 3126-3132 ◽  
Author(s):  
Heike Leyendeckers ◽  
Eberhard Voth ◽  
Harald Schicha ◽  
Nicolas Hunzelmann ◽  
Paul Banga ◽  
...  
Keyword(s):  
B Cells ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Memory B Cells ◽  
Thyroid Peroxidase ◽  
Autoimmune Thyroid ◽  
Specific Igg

The Antibody Response in Human Autoimmune Thyroid Disease

1997 ◽  
Vol 92 (6) ◽  
pp. 529-541 ◽  
Author(s):  
Richard S. McIntosh ◽  
M. Suhail Asghar ◽  
Anthony P. Weetman
Keyword(s):  
Antibody Response ◽  
Thyroid Disease ◽  
Hormone Receptor ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Stimulating Hormone ◽  
Thyroid Peroxidase ◽  
Autoimmune Thyroid ◽  
Thyroid Autoantigens ◽  
Reactive Antibody ◽  
Stimulating Hormone

1. The analysis of the antibody response in autoimmune thyroid disease has followed several historical trends. It was the investigation of thyroid-reactive antibody that allowed the initial characterization of the three principle thyroid autoantigens, thyroglobulin, thyroid peroxidase and the thyroid stimulating hormone receptor. 2. Analysis can be grouped under two broad areas: analysis of the physiological and pathological effects of the antibody, and analysis of the structure of the antibodies themselves. This review will focus on the latter. 3. Within recent years there has been a great increase in knowledge of thyroid-reactive antibody structure, principally through the adoption of phage display combinatorial library methodologies. While this latter technique has established some general principles for antibodies to thyroglobin and especially thyroid peroxidase, there is still a substantial gap in our knowledge of the antibody response to the thyroid stimulating hormone receptor. 4. Thyroid peroxidase antibodies have a relatively restricted V-region usage, and there is a correlation between the V-regions used and the epitope on thyroid peroxidase bound. In particular the Vκ light chain, Vκl(O12), is associated with reactivity to one epitope. 5. The purpose of this review is to bring together the latest results concerning the molecular analysis of the antibody response in autoimmune thyroid disease, to highlight areas of ignorance and conflict, and to discuss the methods adopted to circumvent the problems associated with analysis of the antibody response.

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