Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Barlow, Anne-Marie; Wheatcroft, N. J.; Watson, P.; Weetman, Anthony P.

doi:10.1046/j.1365-2265.1996.634454.x

Cited by 93 publications

(58 citation statements)

References 16 publications

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“…A recent familybased study from UK using the transmission disequilibrium test (TDT) confirmed the results of the case control studies (Heward et al 1998a). Among Caucasians, HLA-DQA1 * 0501 was also shown to be associated with GD ðRR ¼ 3:8Þ (Yanagawa et al 1993, Barlow et al 1996, Marga et al 2001, but recent studies have suggested that the primary susceptibility allele in GD is indeed HLA-DR3 (HLA-DRB1 * 03) (Zamani et al 2000). However, the exact amino-acid sequence in the DRb1 chain conferring susceptibility to GD is unknown.…”

Section: Immune Related Genessupporting

confidence: 53%

Susceptibility Genes in Thyroid Autoimmunity

Ban

Tomer

2005

Journal of Immunology Research

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The autoimmune thyroid diseases (AITD) are complex diseases which are caused by an interaction between susceptibility genes and environmental triggers. Genetic susceptibility in combination with external factors (e.g. dietary iodine) is believed to initiate the autoimmune response to thyroid antigens. Abundant epidemiological data, including family and twin studies, point to a strong genetic influence on the development of AITD. Various techniques have been employed to identify the genes contributing to the etiology of AITD, including candidate gene analysis and whole genome screening. These studies have enabled the identification of several loci (genetic regions) that are linked with AITD, and in some of these loci, putative AITD susceptibility genes have been identified. Some of these genes/loci are unique to Graves' disease (GD) and Hashimoto's thyroiditis (HT) and some are common to both the diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune modifying genes (e.g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg). Most likely, these loci interact and their interactions may influence disease phenotype and severity.

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Section: Immune Related Genessupporting

confidence: 53%

Susceptibility Genes in Thyroid Autoimmunity

Ban

Tomer

2005

Journal of Immunology Research

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“…Many studies regarding HLA associations with GD have been performed, and different associations have been reported in different races and ethnic groups [4,5,6,7,8,9,10,11]. Wong et al [11] also found that the susceptible and protective HLA-DQ alleles for GD in Chinese children differ from those in Caucasians and Chinese adults.…”

Section: Introductionmentioning

confidence: 92%

Association of HLA-DR, -DQ Genotype and CTLA-4 Gene Polymorphism with Graves’ Disease in Japanese Children

et al. 2005

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Objective: Childhood onset Graves’ disease (GD) has been documented to be clinically distinct from adult onset GD, and an association with the genes encoding HLA and CTLA-4 (cytotoxic T lymphocyte antigen-4) has been reported in both Caucasian and Japanese adult GD patients. The aim of this study was to determine whether HLA-DR, -DQ and CTLA-4 are associated with childhood onset GD in Japanese individuals. Methods: We investigated the genotype of HLA class II (DRB1, DQB1) and the A/G transition polymorphism of CTLA-4 exon 1 position 49 in 43 GD patients and in healthy controls for comparison. The CTLA-4 alleles were identified by the polymerase chain reaction (PCR) of genomic DNA and restriction fragment-length polymorphism analysis (PCR-RFLP) with Ita1. Results: The frequency of both HLA-DRB1*0405 and DQB1*0401 was increased in the patient group (DRB1*0405: 26.7%, p < 0.001; DQB1*0401: 25.6%, p < 0.005) compared with the controls. Patients with GD had a significantly lower frequency of the AA genotype of CTLA-4 than the controls, but there was no difference in allele frequency between the G and A allele. Conclusions: the association of HLA-DRB1 and DQB1 genotype with susceptibility to childhood onset GD differs from that in adult onset GD, whereas the association between CTLA-4 gene polymorphism and childhood onset GD is similar to that in adult onset GD in Japanese individuals, but the association is weak.

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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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Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Cited by 93 publications

References 16 publications

Susceptibility Genes in Thyroid Autoimmunity

Susceptibility Genes in Thyroid Autoimmunity

Association of HLA-DR, -DQ Genotype and CTLA-4 Gene Polymorphism with Graves’ Disease in Japanese Children

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

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