scholarly journals HLA Class II Haplotypes Differentiate Between the Adult Autoimmune Polyglandular Syndrome Types II and III

2014 ◽  
Vol 99 (1) ◽  
pp. E177-E182 ◽  
Author(s):  
B. K. Flesch ◽  
N. Matheis ◽  
T. Alt ◽  
C. Weinstock ◽  
J. Bux ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Addison’S Disease ◽  
Class Ii ◽  
Hla Class Ii ◽  
Addison's Disease ◽  
Type Ii ◽  
Autoimmune Thyroid ◽  
Autoimmune Polyglandular Syndrome ◽  
Hla Class Ii Alleles

Background: Genetics of the adult autoimmune polyglandular syndrome (APS) is poorly understood. Aim: The aim of this study was to gain further insight into the genetics of the adult APS types. Site: The study was conducted at a university referral center. Methods: The human leukocyte antigen (HLA) class II alleles, haplotypes, and genotypes were determined in a large cohort of patients with APS, autoimmune thyroid disease (AITD), and type 1 diabetes and in healthy controls by the consistent application of high-resolution typing at a four-digit level. Results: Comparison of the allele and haplotype frequencies significantly discriminated patients with APS vs AITD and controls. The HLA class II alleles DRB1*03:01 *04:01, DQA1*03:01, *05:01, DQB1*02:01, and *03:02 were observed more frequently (P < .001) in APS than in AITD and controls, whereas the alleles DRB1*15:01, DQB1*03:01, and *06:02 were underrepresented in APS vs AITD (Pc < .001) and controls (Pc < .01), respectively. The DRB1*03:01-DQA1*05:01-DQB1*02:01 (DR3-DQ2) and DRB1*04:01-DQA1*03:01:DQB1*03:02 (DRB1*04:01-DQ8) haplotypes were overrepresented in APS (Pc < .001). Combination of both haplotypes to a genotype was highly prevalent in APS vs AITD and controls (Pc < .001). Dividing the APS collective into those with Addison's disease (APS type II) and those without Addison's disease but including type 1 diabetes and AITD (APS type III) demonstrated DR3-DQ2/DRB1*04:01-DQ8 as a susceptibility genotype in APS III (Pc < .001), whereas the DR3-DQ2/DRB1*04:04-DQ8 genotype correlated with APS II (Pc < .001). The haplotypes DRB1*11:01-DQA1*05:05-DQB1*03:01 and DRB1*15:01-DQA1*01:02-DQB1*06:02 are protective in APS III but not in type II (Pc < .01). Conclusions: HLA class II haplotypes differentiate between the adult APS types II and III. Susceptible haplotypes favor the development of polyglandular autoimmunity in patients with AITD.

scholarly journals GAD65 antibody prevalence and association with c-peptide, HLA class II alleles in Beninese patients with type 1 diabetes

2017 ◽  
Vol 5 (8) ◽  
pp. 3406
Author(s):  
Kaossarath A. Fagbemi ◽  
Simon Azonbakin ◽  
Marius Adjagba ◽  
Razack Osseni ◽  
Rafiath Babio ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Sensitivity And Specificity ◽  
Class Ii ◽  
Hla Class Ii ◽  
Acid Decarboxylase ◽  
C Peptide ◽  
Significant Difference ◽  
Hla Dr3 ◽  
Hla Class Ii Alleles

Background: Antibodies to glutamic acid decarboxylase and particularly their isoforms in 65 kDa are one of markers for the diagnosis of the type 1 diabetes (T1D). The aim of this study is to assess the prevalence of GAD65 antibodies (GAD65Ab) and investigate the association of GAD65Ab with C-peptide values, HLA Class II alleles genotyping. The diagnosis of T1D was set up according to American Diabetes Association criteria.Methods: Radioimmunoassay was used to determine the GAD65Ab and C-peptide values. Class II HLA genotyping was performed in 51 patients with T1D and 51 healthy unrelated as control by using the PCR-SSP method. The sensitivity and specificity of the tests were calculated by standard formula.Results: Result revealed that GAD65Ab were present in 74.5% (38/51) of the patients with T1D. There was no significant difference between the positivity or the negativity of GAD65Ab and gender, onset and duration of diabetes, frequencies of HLA-DR4, HLA-DR3-DR4, HLA-DQB1*0201. However, GAD65Ab values are linked to C-peptide concentration (χ2 =15.73, P=0.0001), the presence of HLA-DR3 (χ2 =9.75, P= 0.002), HLA-DQA1*0501 (χ2 =4.09, P= 0.043) alleles. The GAD65Ab test sensitivity and specificity were 74.5% and 94.1%, respectively. The C-peptide test showed a sensitivity around 82.4 % and 86.3 % for the specificity.Conclusions: GAD65Ab showed to be a valuable early predictive marker and is associated with the risk to develop of T1D.

Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes†

2011 ◽  
Vol 77 (4) ◽  
pp. 317-324 ◽  
Author(s):  
C. Weinstock ◽  
N. Matheis ◽  
S. Barkia ◽  
M.-C. Haager ◽  
A. Janson ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Class Ii ◽  
Hla Class Ii ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

HLA class II alleles and autoantibodies in Mexican-American families with type 1 diabetes

2000 ◽  
Vol 50 ◽  
pp. 89
Author(s):  
Adina Zeidler ◽  
LeslieJ. Raffel ◽  
SylviaJ. Shaw ◽  
Janelle Noble ◽  
JeromeI. Rotter ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Mexican American ◽  
Class Ii ◽  
Hla Class Ii ◽  
Mexican American Families ◽  
Hla Class Ii Alleles ◽  
American Families

HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease

HLA ◽  
2017 ◽  
Vol 89 (5) ◽  
pp. 278-284 ◽  
Author(s):  
M. K. Viken ◽  
S. T. Flåm ◽  
T. Skrivarhaug ◽  
S. S. Amundsen ◽  
L. M. Sollid ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Celiac Disease ◽  
Class Ii ◽  
Hla Class Ii ◽  
Hla Class Ii Alleles

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE Disease burden and treatment challenges in patients with both Addison’s disease and type 1 diabetes mellitus

2020 ◽  
Vol 183 (1) ◽  
pp. R1-R11
Author(s):  
Dimitrios Chantzichristos ◽  
Björn Eliasson ◽  
Gudmundur Johannsson
Keyword(s):  
Type 1 Diabetes ◽  
Management Strategies ◽  
Treatment Strategies ◽  
Specific Treatment ◽  
Addison’S Disease ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Autoimmune Thyroid ◽  
Increased Risk

Concurrent type 1 diabetes (T1D) and Addison’s disease (AD) is a rare combination of diseases and, in approximately one third of these patients, it is also combined with an autoimmune thyroid disease. Recently, it was shown that patients with both T1D and AD have a higher risk of premature death compared to patients with T1D alone, the most common causes of death being due to diabetic complications and cardiovascular disease. These patients receiving replacement therapies with both insulin and glucocorticoids face an increased risk of hypo- and hyperglycemia and diabetic ketoacidosis and have a higher risk of adrenal crisis than patients with AD alone. Treatment challenges include the opposing effects of insulin and glucocorticoids on glucose homeostasis and the need to balance and synchronize these two treatments. The rarity of this disease combination may explain the paucity of data on outcome and specific treatment strategies in this patient group. Based on this review, we suggest management strategies for their insulin and glucocorticoid replacement therapies and indicate future areas of research.

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