What is the Evidence of Genetic Factors in the Etiology of Graves' Disease? A Brief Review

Brix, Thomas Heiberg; Kyvik, Kirsten Ohm; Hegedűs, László

doi:10.1089/thy.1998.8.627

Cited by 97 publications

(32 citation statements)

References 81 publications

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“…The HLA studies in Caucasoid populations have shown an association of GD with HLA-DR3 and -B8 [5] and of HD with HLA-DR3, -4 and -5 [6]. The HLA genes which are known to be related to AITD in the Caucasian population are known to be different from the HLA genes of other racial populations.…”

Section: Introductionmentioning

confidence: 99%

Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

et al. 2011

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Backgrounds: Data regarding genetics of Hashimoto’s disease (HD) and Graves’ disease (GD) in Korean children are lacking. Methods: 73 patients with autoimmune thyroid disease (AITD; HD 32, GD 41) were recruited. We analyzed human leukocyte antigen (HLA) class I and HLA-DRB1 by PCR-SSP, and compared them with those of 159 controls. Results: In AITD, the allele frequencies of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-A*30, -B*07, -Cw*07 and -DRB1*01 were lower than in controls. In HD, those of HLA-B*46 and -Cw*01 were higher and those of HLA-DRB1*01 and -Cw*07 were lower than in controls. In GD, those of HLA-A*02, -B*46, -Cw*01 and -DRB1*08 were higher and those of HLA-DRB1*07 and -Cw*07 were lower than in controls. Between HD and GD, there were no significant differences in allele frequencies. The risk of AITD in the presence of both HLA-B*46 and -Cw*01 is higher than in the presence of either allele alone. Conclusion: The susceptible and protectable alleles in HD are similar to those in GD. Coexistence of HLA-B*46 and -Cw*01 may be a genetic gene marker for early-onset AITD in Koreans.

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Section: Introductionmentioning

confidence: 99%

Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

et al. 2011

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“…Variable associations of HLA class II DR, DQ, and DP, especially DRB1, DQA1, and DQB1 loci, have been reported with autoimmune endocrine diseases such as type 1 DM, Addison’s disease, Graves’ disease, and Hashimoto’s thyroiditis [9,10,11,12,13,14,15,16,17,18]. Patients with APS II/III, who develop more than two autoimmune disorders, may be related to a combination of at least two closely related genes (haplotypes).…”

Section: Introductionmentioning

confidence: 99%

Susceptibility Alleles and Haplotypes of Human Leukocyte Antigen DRB1, DQA1, and DQB1 in Autoimmune Polyglandular Syndrome Type III in Japanese Population

et al. 2005

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Background: It has been reported that HLA class II haplotypes DRB1*0405-DQA1*0303-DQB1*0401 and DRB1*0901-DQA1*0302-DQB1*0303 are major susceptibility haplotypes for type 1 diabetes mellitus (DM) in Japanese population. However, little has been reported on the susceptibility HLA class II haplotypes in Japanese patients with autoimmune polyglandular syndrome type II and type III (APS III). Patients and Methods: HLA class II haplotypes of DRB1-DQA1-DQB1 in 31 patients with APS III, 14 patients with Hashimoto’s thyroiditis alone, and 15 patients with Graves’ disease alone were examined in Japanese population. APS III patients were divided into three groups (A, B, and C) depending on the combination of autoimmune endocrine diseases. Results: In 13 APS III patients with both Hashimoto’s thyroiditis and type 1 DM (group A), the haplotype frequencies of the HLA DRB1*0802-DQA1*0401-DQB1*0402 and DRB1*0901-DQA1*0302-DQB1*0303 were significantly higher than in the controls. In patients with Hashimoto’s thyroiditis alone, the haplotype frequency of DRB1*0901-DQA1*0302-DQB1*0303 was significantly higher than in controls, whereas the frequency of DRB1*0802-DQA1*0401-DQB1*0402 did not differ significantly from those in the controls. In 11 APS III patients with both Graves’ disease and type 1 DM (group B), the haplotype frequencies of HLA DRB1*0405-DQA1*0303-DQB1*0401 and DRB1*0802-DQA1*0301-DQB1*0302 were significantly higher than in controls. In patients with Graves’ disease alone, the haplotype frequency of DRB1*0803-DQA1*0103-DQB1*0601 were significantly higher than those in controls, suggesting that the susceptibility haplotypes for group B APS III differed from those for Graves’ disease alone. In 7 APS III patients with both autoimmune thyroid diseases and pituitary disorders (group C), the haplotype frequency of HLA DRB1*0405-DQA1*0303-DQB1*0401 was significantly higher than in controls. Conclusions: Susceptible HLA class II haplotypes of DRB1-DQA1-DQB1 for APS III differ between the Japanese and Caucasian populations. More interestingly, the susceptible HLA class II haplotypes differ among the three types of Japanese APS III and are not merely a combination of susceptibility haplotypes of each endocrine disease.

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“…Genetic susceptibility in combination with external factors such as smoking, viral/bacterial infection, and chemicals is believed to initiate the autoimmune response against thyroid antigens [3,8]. Graves’ disease is considered as a multifactorial disorder in which genetic susceptibility interacts with environmental and endogenous factors to cause disease [10]. …”

Section: Discussionmentioning

confidence: 99%

Graves’ disease in monozygotic twins – a case report

2013

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BackgroundAutoimmune thyroid diseases including Graves’ disease and Hashimoto’s thyroiditis are caused by immune response to self-thyroid antigens. The rare situation of hyperthyroidism with Graves’ disease in twins has been reported in a very few case reports in literature.Case presentationWe present monozygotic female twins developing consecutively Graves’ disease within five years. One year before the diagnosis of Graves’ disease was established in the first twin, the mother developed a toxic thyroid nodule with hyperthyroidism leading to hemi thyroidectomy. Both the mother and the twins were cigarette smokers. The twins were treated with carbamizole and this therapy led to normalization of thyroid stimulating hormone and thyroxine.ConclusionThis case report supports the hypothesis that a genetic factor as well as an environmental factor (cigarette smoking) might be of great importance in the aetiology of Graves’ disease.

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What is the Evidence of Genetic Factors in the Etiology of Graves' Disease? A Brief Review

Cited by 97 publications

References 81 publications

Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

Association of HLA Alleles with Autoimmune Thyroid Disease in Korean Children

Susceptibility Alleles and Haplotypes of Human Leukocyte Antigen DRB1, DQA1, and DQB1 in Autoimmune Polyglandular Syndrome Type III in Japanese Population

Graves’ disease in monozygotic twins – a case report

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