Codon 17 Polymorphism of the Cytotoxic T Lymphocyte Antigen 4 Gene in Hashimoto's Thyroiditis and Addison's Disease

1997 ◽  
Vol 82 (12) ◽  
pp. 4130-4132 ◽  
Author(s):  
H. Donner
Keyword(s):  
T Lymphocyte ◽  
Hashimoto’S Thyroiditis ◽  
Cytotoxic T Lymphocyte ◽  
Addison’S Disease ◽  
Hashimoto's Thyroiditis ◽  
Addison's Disease ◽  
Lymphocyte Antigen

scholarly journals Polymorphisms in the Cytotoxic T Lymphocyte Antigen-4 Gene Region Confer Susceptibility to Addison’s Disease

2004 ◽  
Vol 89 (7) ◽  
pp. 3474-3476 ◽  
Author(s):  
Anne Blomhoff ◽  
Benedicte A. Lie ◽  
Anne G. Myhre ◽  
E. Helen Kemp ◽  
Anthony P. Weetman ◽  
...  
Keyword(s):  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Adaptive Immune System ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Endocrine Disorders ◽  
Gene Splicing ◽  
Lymphocyte Antigen ◽  
Autoimmune Thyroid ◽  
Activated T Lymphocytes

Abstract The cytotoxic T lymphocyte antigen-4 (CTLA4) gene on chromosome 2q33 encodes a key regulator in the adaptive immune system. The CTLA4 surface molecule is expressed on activated T lymphocytes and involved in down-regulation of the immune response. Previous studies on a possible association between autoimmune Addison’s disease and CTLA4 polymorphisms have shown conflicting results. A recent study identified new candidate polymorphisms in the CTLA4 region, influencing gene splicing and thereby the relative abundance of soluble CTLA4. We genotyped 134 patients with Addison’s disease and 413 healthy controls from Norway and United Kingdom for these newly identified polymorphisms. Our data demonstrate that the same polymorphisms that have recently been demonstrated to confer susceptibility to autoimmune thyroid disease and type 1 diabetes also confer susceptibility to Addison’s disease. This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.

scholarly journals Codon 17 Polymorphism of the Cytotoxic T Lymphocyte Antigen 4 Gene in Hashimoto’s Thyroiditis and Addison’s Disease1

1997 ◽  
Vol 82 (12) ◽  
pp. 4130-4132 ◽  
Author(s):  
Horst Donner ◽  
Jens Braun ◽  
Christian Seidl ◽  
Harald Rau ◽  
Reinhard Finke ◽  
...  
Keyword(s):  
T Lymphocyte ◽  
Hashimoto’S Thyroiditis ◽  
Cytotoxic T Lymphocyte ◽  
Hashimoto's Thyroiditis ◽  
Lymphocyte Antigen

scholarly journals Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto’s thyroiditis or Addison’s disease in the German population

2005 ◽  
Vol 153 (6) ◽  
pp. 895-899 ◽  
Author(s):  
Heinrich Kahles ◽  
Elizabeth Ramos-Lopez ◽  
Britta Lange ◽  
Oliver Zwermann ◽  
Martin Reincke ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Hashimoto’S Thyroiditis ◽  
Addison’S Disease ◽  
Hashimoto's Thyroiditis ◽  
Addison's Disease ◽  
Healthy Controls ◽  
Significant Difference

Background: Endocrine autoimmune disorders share genetic susceptibility loci, causing a disordered T-cell activation and homeostasis (HLA class II genes, CTLA-4). Recent studies showed a genetic variation within the PTPN22 gene to be an additional risk factor. Materials and Methods: Patients with type 1 diabetes (n = 220), Hashimoto’s thyroiditis (n = 94), Addison’s disease (n = 121) and healthy controls (n = 239) were genotyped for the gene polymorphism PTPN22 1858 C/T. Results: Our study confirms a significant association between allelic variation of the PTPN22 1858 C/T polymorphism and type 1 diabetes mellitus (T1D). 1858T was observed more frequently in T1D patients (19.3% vs 11.3%, P = 0.0009; odds ratio for allele T = 1.88, 95% confidence interval [1.3–2.7]). Furthermore, we found a strong association in female patients with T1D (P = 0.0003), whereas there was no significant difference between male patients with type 1 diabetes and male controls. No significant difference was observed between the distribution of PTPN22 C/T in patients with Hashimoto’s thyroiditis or Addison’s disease and healthy controls. Conclusion: The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.

scholarly journals A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans

2004 ◽  
pp. 193-197 ◽  
Author(s):  
ER Lopez ◽  
O Zwermann ◽  
M Segni ◽  
G Meyer ◽  
M Reincke ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Hashimoto’S Thyroiditis ◽  
Allelic Variation ◽  
Addison’S Disease ◽  
Hashimoto's Thyroiditis ◽  
Addison's Disease ◽  
Graves Disease

BACKGROUND: CYP27B1 hydroxylase catalyzes the conversion of 25 hydroxyvitamin D(3) (25OHD(3)) to 1,25(OH)(2)D(3), the most active natural vitamin D metabolite, which plays a role in the regulation of immunity and cell proliferation. We therefore investigated two single nucleotide polymorphisms in the CYP27B1 hydroxylase gene for an association with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus. METHODS: Patients with Addison's disease (n=124), Hashimoto's thyroiditis (n=139), Graves' disease (n=334), type 1 diabetes mellitus (n=252) and healthy controls (n=320) were genotyped for the promoter (-1260) C/A polymorphism and for the intron 6 (+2838) C/T polymorphism of the CYP27B1 gene. Patients and controls were compared using genotype-wise and allele-wise X(2) testing. RESULTS: A significant association was found between allelic variation of the promoter (-1260) C/A polymorphism and Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus (P=0.0062, P=0.0173, P=0.0094 and P=0.0028 respectively). Significant differences were also observed for the intron 6 (+2838) C/T polymorphism (P=0.0058) in Hashimoto's thyroiditis but not for the other autoimmune endocrine diseases. CONCLUSIONS: The CYP27B1 promoter (-1260) C/A polymorphism appears to be associated with endocrine autoimmune diseases but the CYP27B1 intron 6 (+2838) C/T polymorphism appears to be associated only with Hashimoto's thyroiditis. These results imply a regulatory difference of the CYP27B1 hydroxylase to predispose to endocrine autoimmunity.

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