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 ◽  
...  

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.

2004 ◽  
pp. 193-197 ◽  
Author(s):  
ER Lopez ◽  
O Zwermann ◽  
M Segni ◽  
G Meyer ◽  
M Reincke ◽  
...  

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.


1995 ◽  
Vol 32 (2) ◽  
pp. 121-124 ◽  
Author(s):  
G. Radetti ◽  
C. Paganini ◽  
L. Gentili ◽  
S. Bernasconi ◽  
C. Betterle ◽  
...  

2009 ◽  
Vol 98 (6) ◽  
pp. 1369-1371
Author(s):  
Makiko Nishi ◽  
Ken Ohashi ◽  
Jun-ichi Osuga ◽  
Kazuhisa Tsukamoto ◽  
Kohjiro Ueki ◽  
...  

2013 ◽  
Vol 5 (4) ◽  
pp. 240-244 ◽  
Author(s):  
Korzeniowska Katarzyna ◽  
Chobot Przemyslawa Jarosz ◽  
Szypowska Agnieszka ◽  
Ramotowska Anna ◽  
Fendler Wojciech ◽  
...  

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A436-A436
Author(s):  
Tasya Kamila ◽  
Muhammad Pranandi ◽  
Robby Pratomo Putra ◽  
Jerry Nasarudin ◽  
Muhammad Ikhsan Mokoagow ◽  
...  

Abstract Recurrent Abortion in Multigravid Type 1 Diabetes Mellitus Woman With Subclinical Hypothyroidism Hashimoto’s Thyroiditis and Antiphospholipid Syndrome as a Manifestation of Type III Autoimmune Polyglandular Syndrome: A Case Report Background: Type 1 Diabetes Mellitus, Antiphospholipid Syndrome, and autoimmune thyroid disease such as Hashimoto’s Thyroiditis had been reported for increasing risk of miscarriages. Meanwhile, the type III Autoimmune Polyglandular Syndrome comprises of autoimmune hypothyroidism and immune mediated diabetes mellitus. Here we report a manifestation of the syndrome presented as a recurrent pregnancy loss in newly diagnosed subclinical hypothyroidism phase of Hashimoto’s Thyroiditis and Antiphospholipid Syndrome, in multigravid woman with long standing Type 1 Diabetes Mellitus. Clinical Case: A 31 years old woman, 20 weeks pregnant, with previously known Type 1 Diabetes Mellitus since the age of 11 years old, came to the Emergency Room with diabetic ketoacidosis. She complained of having nausea, vomiting, and diarrhea two days before hospital admission. She also had history of six spontaneous abortions which all occurred at below 20 weeks of gestation, but no further examination was done to find the cause. The patient was examined with fetal ultrasound and showed good fetal condition, fetal heart rate 143 bpm, estimated fetal weight 562 grams, polyhidramnion, and single umbilical artery. The patient denied any symptoms regarding hair loss, cold intolerence, slow movement, slow speech, or constipation. From physical examination, we found normal vital signs, no abnormalities in thyroid physical examination, but dry hyperpigmented skin in both legs. The patient was examined for thyroid function and found elevated TSH (5.625 IU/mL, n = 0,48 - 4,17 mIU/L) and normal free T4 (1,3 ng/dL, n = 0,89 - 1,76 ng/dL). The TPO antibody was 549,59 IU/mL (n<5.61 IU/mL) and lupus anticoagulant was weakly positive (1.2 - 2.5, n<1.2). The patient was finally diagnosed as Hashimoto’s Thyroiditis and Antiphospholipid Syndrome, which was unrecognized at previous medical care, and in addition to previously known Diabetes Mellitus Type 1 could be manifested as Type III Autoimmune Polyglandular Syndrome. The likely cause of recurrent pregnancy loss in this case could be the Hashimoto’s Thyroiditis and Antiphospholipid Syndrome. Conclusion: Type III Autoimmune Polyglandular Syndrome could be manifested as recurrent pregnancy loss in patient with Type 1 Diabetes Mellitus, therefore the examination of thyroid function and other autoimmune disease such as Antiphospholipid Syndrome should be conducted.


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