Retrovirus-Like Long-Terminal Repeat DQ-LTR13 and Genetic Susceptibility to Type 1 Diabetes and Autoimmune Addison's Disease

Diabetes ◽  
2005 ◽  
Vol 54 (3) ◽  
pp. 900-905 ◽  
Author(s):  
G. Gambelunghe ◽  
I. Kockum ◽  
V. Bini ◽  
G. D. Giorgi ◽  
F. Celi ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Long Terminal Repeat ◽  
Genetic Susceptibility ◽  
Addison’S Disease ◽  
Terminal Repeat ◽  
Addison's Disease

scholarly journals Familial associations for Addison’s disease and between Addison’s disease and other autoimmune diseases

2020 ◽  
Vol 9 (11) ◽  
pp. 1114-1120
Author(s):  
Hauke Thomsen ◽  
Xinjun Li ◽  
Kristina Sundquist ◽  
Jan Sundquist ◽  
Asta Försti ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Familial Risk ◽  
Addison’S Disease ◽  
Population Based ◽  
Addison's Disease ◽  
Genetic Etiology ◽  
Polygenic Inheritance ◽  
Relative Risks ◽  
Very High

Design Addison’s disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, present as an isolated AD or part of autoimmune polyendocrine syndromes (APSs) 1 and 2. Although AD patients present with a number of AID co-morbidities, population-based family studies are scarce, and we aimed to carry out an unbiased study on AD and related AIDs. Methods We collected data on patients diagnosed with AIDs in Swedish hospitals and calculated standardized incidence ratios (SIRs) in families for concordant AD and for other AIDs, the latter as discordant relative risks. Results The number of AD patients was 2852, which accounted for 0.4% of all hospitalized AIDs. A total of 62 persons (3.6%) were diagnosed with familial AD. The SIR for siblings was remarkably high, reaching 909 for singleton siblings diagnosed before age 10 years. It was 32 in those diagnosed past age 29 years and the risk for twins was 323. SIR was 9.44 for offspring of affected parents. AD was associated with 11 other AIDs, including thyroid AIDs and type 1 diabetes and some rarer AIDs such as Guillain–Barre syndrome, myasthenia gravis, polymyalgia rheumatica and Sjögren’s syndrome. Conclusions The familial risk for AD was very high implicating genetic etiology, which for juvenile siblings may be ascribed to APS-1. The adult part of sibling risk was probably contributed by recessive polygenic inheritance. AD was associated with many common AIDs; some of these were known co-morbidities in AD patients while some other appeared to more specific for a familial setting.

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.

scholarly journals Vitamin D receptor genotype is associated with Addison's disease

2002 ◽  
pp. 635-640 ◽  
Author(s):  
MA Pani ◽  
J Seissler ◽  
KH Usadel ◽  
K Badenhoop
Keyword(s):  
Vitamin D ◽  
Type 1 Diabetes ◽  
Vitamin D Receptor ◽  
Odds Ratio ◽  
Thyroid Autoimmunity ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Genotype Distribution ◽  
Vdr Polymorphisms

OBJECTIVE: Autoimmune Addison's disease is a rare disorder which results from the T cell-mediated destruction of adrenocortical cells. A number of genetic susceptibility markers are shared by Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis. The vitamin D endocrine system has been shown to influence immune regulation. Variants of the nuclear vitamin D receptor (VDR) gene were found to be associated with type 1 diabetes and thyroid autoimmunity amongst others. We therefore investigated the role of VDR polymorphisms in Addison's disease. DESIGN AND METHODS: Patients (n=95) and controls (n=220) were genotyped for VDR polymorphisms FokI, BsmI, ApaI and TaqI. RESULTS: The 'ff' (13.7% vs 5.5%; P=0.0243; odds ratio = 2.75) and the 'tt' (28.4% vs 14.1%; P=0.0043; odds ratio = 2.42) genotypes were significantly more frequent in patients than in controls. Furthermore, the BsmI genotype distribution differed significantly between patients and controls (chi(2)=6.5016 (2 d.f.) P=0.0387). CONCLUSIONS: These data suggest that the VDR genotype is associated with Addison's disease. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated.

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