Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: Possible role in subjects without having high-risk HLA haplotypes

2006 ◽  
Vol 71 (2) ◽  
pp. 164-169 ◽  
Author(s):  
Jian Mei Yang ◽  
Shoichiro Nagasaka ◽  
Toshimitsu Yatagai ◽  
Tomoatsu Nakamura ◽  
Ikuyo Kusaka ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
High Risk ◽  
Type 1 Diabetes Mellitus ◽  
Hla Haplotypes

HLA haplotypes associated with type 1 diabetes mellitus in north indian children

2004 ◽  
Vol 65 (1) ◽  
pp. 47-53 ◽  
Author(s):  
Uma Kanga ◽  
Balu Vaidyanathan ◽  
Ritika Jaini ◽  
Puthezath S.N Menon ◽  
Narinder K Mehra
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Indian Children ◽  
Hla Haplotypes

scholarly journals Clinical features, Epidemiology, Autoantibody status, HLA Haplotypes and Genetic Mechanisms of Type 1 diabetes mellitus among Children in Qatar

2021 ◽  
Author(s):  
Basma Haris ◽  
Ikhlak Ahmed ◽  
Najeeb Syed ◽  
Hakeem Almabrazi ◽  
Saras Saraswathi ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Clinical Features ◽  
P Value ◽  
Hla Dq ◽  
Genetic Mechanisms ◽  
Autoantibody Status ◽  
Hla Haplotypes

Abstract Aims - To describe the clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus (T1DM). Methods - Patients (0–18 years) with diabetes were recruited. Clinical data was collected, autoantibodies and c-peptide were measured. Whole Genome Sequencing was performed. Genomic data analysis was compared with the known genes linked with T1DM and HLA alleles were studied. Results - 1096 patients had one or more antibody positivity. The incidence of T1DM in 2020 was 38.05 per 100,000 children and prevalence was 249.73. GAD65 was the most common autoantibody and IA2 was most specific. Variants in GSTCD, SKAP2, SLC9B1, BANK1 were most prevalent. An association of HLA haplotypes DQA1*03:01:01G (OR = 2.46, pvalue = 0.011) and DQB1*03:02:01G (OR = 2.43, p value = 0.022) was identified. Conclusions - In this first prospective study, IA2 autoantibody was the most specific, some patients only have ZnT8 or IA2 autoantibodies thus underlining the necessity of profiling all 4 antibodies. The genes associated with T1DM in the Arab population were different from those that are common in the Caucasian population. HLA-DQ was enriched in the Qatari patients suggesting that it can be considered a major risk factor at an early age.

scholarly journals Evaluation of efficiency of Fas-mediated apotosis of peripheral blood lymphocytes in patients with type 1 diabetes mellitus

2019 ◽  
Vol 3 (22) ◽  
pp. 26-32
Author(s):  
A. V. Lugovaya ◽  
N. M. Kalinina ◽  
V. F. Mitreikin ◽  
Yu. V. Emanuel ◽  
Yu. P. Kovaltchuk ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
High Risk ◽  
T Lymphocytes ◽  
Type 1 Diabetes Mellitus ◽  
Peripheral Blood ◽  
Peripheral Blood Lymphocytes ◽  
Soluble Fas ◽  
Soluble Fasl

The Fas/FasL system is known to play a central role in maintaining peripheral self-tolerance and tissue homeostasis of the organism [12, 18]. Fas-mediated apoptosis is induced by binding of the Fas(CD 95/APO-l/TNFRSF6)-receptor to the Fas(CD 95L/CD 178/TNFSF6)-ligand on the respective cells [24]. Triggering of the expression of cell surface Fas receptors (Fas) regulates the elimination of autoreactive T- and B-lymphocytes by apoptosis. It is known that impaired activation of Fas-mediated apoptosis in individual subpopulations of T-cells plays an important role in the pathogenesis of type 1 diabetes mellitus (T1DM). The main key point in the development of T1DM is resistance to apoptosis of activated autoreactive T-lymphocytes, which migrate from the bloodstream to the pancreas and take an active part in β-cells destruction. Аt the present time, most of the results on the study of Fas-mediated apoptosis in T1DM were obtained in experiments in vitro [11, 18, 31]. There is no doubt that in vivo autoimmune pathological changes are more profound, and extrapolation of the results obtained in the experiment to the organism is not always valid. Тhereby, it seems relevant to evaluate the efficiency of Fas-mediated apoptosis of T-lymphocytes in the blood of patients with T1DM, depending on the compensation phase and the duration of the disease. In the article, the markers of Fas-mediated apoptosis of peripheral blood lymphocytes in patients with type 1 diabetes mellitus and individuals with high risk of T1DM development have been studied. The surface expression of Fas in individual subpopulations of T-lymphocytes was еvaluated. The inhibition of Fas-mediated apoptosis of autoreactive CD 95+-cells by soluble Fas-receptor was detected in patients with decompensation of T1DM. In compensation phase of T1DM Fas-mediated apoptosis of lymphocyte was successfully realized via the soluble Fas ligand (sFasL). The increased level of soluble FasL was revealed in compensation phase of T1DM and in individuals with high risk of T1DM development. This probably has a protective value, since the soluble FasL is involved in the removal of the peripheral blood autoreactive CD 95+-cells.

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