Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease

Hunt, P. J.; Marshall, S.E.; Weetman, A. P.; Bunce, Michael; Bell, J I; Wass, J. A. H.; Ki, Welsh

doi:10.1046/j.1365-2265.2001.01356.x

Cited by 78 publications

(65 citation statements)

References 55 publications

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“…Our results also revealed no relation between HT and DQB1*303 or DQB1*0201 (Table 1 in the "Appendix"). These findings are almost similar to the study done by Hunt et al (2001) on 77 UK patients that showed only a weak relation between HT and DQB1*303. Data on HLA haplotypes and their association with HT have been less definitive than those on GD (Vaidya et al 2002).…”

Section: Discussionsupporting

confidence: 91%

Genetics of autoimmune thyroid disease in the Lebanese population

et al. 2012

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This study aims to investigate the association of human leukocyte antigen (HLA) class II genes and cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) with autoimmune thyroid diseases in the Lebanese population. A total of 128 patients with autoimmune thyroid disease (55 with Graves' disease (GD) and 73 with Hashimoto's thyroiditis (HT)) were typed for HLA DQA1 (0301 and 0501) and DQB1 (0201, 0302, and 0303) and for 49A/G CTLA-4 using PCR-based sequence-specific priming methods. A total of 186 matched controls were typed for the same alleles and compared to the diseased population. Results showed no significant differences in HLA DQB1*0201 or DQB1*0301 allelic frequencies or CTLA-4 polymorphisms between patients and controls. For GD, there was a weak association with HLA DQB1*0302 [34.6% (19 of 55)

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Section: Discussionsupporting

confidence: 91%

Genetics of autoimmune thyroid disease in the Lebanese population

et al. 2012

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“…For example, the development of GD could be due to the genetic effects of MHC such as DRB1*03 with OR values 2.3-3.4 (44). The genotype A5.1/A5.1 in MICA gene occurred more frequently in patients with GD than in the controls (OR 2.0) (45).…”

Section: Graves' N (%)mentioning

confidence: 99%

“…For example, studies with a small number of patients may generate high ORs. The OR of the development of GD with MHC gene is 2.3-3.4 in 135 GD patients (44), while that with MICA gene is 2.0 in 129 GD patients (45), that with CD40 gene is 1.9 in 301 GD patients (47), that with TG gene is 2.44-2.58 in 186 GD patients (30), and that with TNF-a gene is 2.94 in 173 GD patients (34). On the other hand, the OR of the development of GD with CTLA-4 gene is 1.49 PD-L1, programmed cell death-ligand 1; SNP, single nucleotide polymorphism; ATD, antithyroid drugs.…”

Section: Graves' N (%)mentioning

confidence: 99%

Association of an A/C single nucleotide polymorphism in programmed cell death-ligand 1 gene with Graves' disease in Japanese patients.

Hayashi¹,

Kouki²,

Takasu³

et al. 2008

European Journal of Endocrinology

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Objective: Programmed cell death-1 (PD-1) and its ligands (PD-L1 and PD-L2) inhibit T-cell proliferation and activation. This inhibition down-regulates the immune responses. The association of a PD-L1 polymorphism with Graves' disease (GD) was studied. Design: The association of an A/C polymorphism at position 8923 in PD-L1 intron 4 with GD was studied. Patients: The study included 327 GD patients and 192 controls, of which 252 GD patients were followed over 5-10 years. Measurements: PD-L1 intron 4 position 8923 A/C polymorphism was typed using the PCR-restriction fragment length polymorphism method. Results: The A/C genotype frequencies were significantly different between GD patients and controls. The A/C and C/C frequencies were higher in GD patients than in controls. The A/A frequencies were lower in GD patients than in controls. C-allele frequency was higher in GD patients than in controls. A total of 252 GD patients were followed over 5-10 years; 200 had discontinued antithyroid drugs (ATD) while 52 continued to take ATD. Of these 200, 176 continued to be in remission and 24 had relapsed into hyperthyroidism. Significant differences in the duration of positive TBII, positive thyroid-stimulating antibodies, and ATD treatment were noted between the patients in remission and those that had relapsed. Significant differences in the A-and C-allele frequencies were noted between the two. The C-allele frequency was higher in GD patients who did not achieve remission than in those who achieved remission.

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“…Both genetic and environmental factors may affect the development of Graves' disease. Such an autoimmune mechanism could be associated with HLA on chromosome 6p [5][6][7][8][9][10][11][12][13][24][25][26][27][28][29][30][31][32][33] and CTLA-4 on chromosome 2q33 [14][15][16][17][18]. There are several different results regarding HLA haplotypes associated with Graves' disease in Japan [13,28,29,32,33].…”

Section: Discussionmentioning

confidence: 99%

“…In the literature HLA typing has a strong association with the development of Graves' disease with childhood onset, but CTLA-4 polymorphism does not [13]. In addition, HLA polymorphism associated with Graves' disease is different between childhood and adult onset [5][6][7][8][9][10][11][12][13][24][25][26][27][28][29][30][31][32][33].…”

mentioning

confidence: 99%