scholarly journals The Role of PTPN22 C1858T Gene Polymorphism in Diabetes Mellitus Type 1: First Evaluation in Greek Children and Adolescents

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Styliani Giza ◽  
Antonios Goulas ◽  
Emmanouela Gbandi ◽  
Smaragda Effraimidou ◽  
Efimia Papadopoulou-Alataki ◽  
...  

Type 1 diabetes mellitus (T1DM) is an autoimmune multifactorial disease. Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene encodes lymphoid-specific tyrosine phosphatase (Lyp), an inhibitor of T cell activation. PTPN22 C1858T polymorphism was associated with T1DM in populations of Caucasian origin. The aim of this study was the investigation for the first time of the association of PTPN22 C1858T polymorphism with T1DM in Greek population. We studied 130 children and adolescents with T1DM and 135 healthy individuals of Greek origin. The polymorphism was genotyped using polymerase chain reaction with restriction fragment length polymorphism. C1858T and T1858T genotypes as well as 1858T allele were found more frequently in patients (10.8% and 5.8%, resp.) than in healthy individuals (5.9% and 3.0%, resp.) but at non statistically significant level. There was no statistically significant association found with gender, age at diagnosis, severity of onset, history of Hashimoto thyroiditis or family history of T1DM. Increased frequency of 1858T allele in patients than in controls, implying a probable association, agrees with results of similar studies on other populations. The inability to find a statistically significant difference is probably due to the decreased frequency of minor allele in Greek population, indicating the need for a larger sample.

Author(s):  
Elizabeth Eberechi Oyenusi ◽  
Alphonsus Ndidi Onyiriuka ◽  
Yahaya Saidu Alkali

Background: Family history of diabetes mellitus is a useful tool for detecting children and adolescents at risk of the disease. The aim of this study is to determine the prevalence and describe the characteristics of family history of diabetes mellitus in Nigerian children and adolescents with type 1 diabetes. Methods: A retrospective chart review of children and adolescents newly diagnosed with type 1 diabetes was conducted in three tertiary-healthcare institutions in Nigeria. In addition to the review of charts of old patients, other children and adolescents who presented with new-onset diabetes during  the review process were also included. An interviewer-administered questionnaire was used in obtaining information from the patients and their parents. Using the criteria suggested by Scheuner et al, the family history risk category was stratified into average, moderate and high. Results: Out of a total of 65 children and adolescents with type 1 diabetes, 29(44.6%, 95% CI= 32.6-56.7) had a positive family history of diabetes mellitus. Of the affected family members, 42.9% were first-degree relatives. The frequencies of family history risk category were average 65.5%, moderate 27.6% and high 6.9%. Among the affected family members in whom information on their diabetes status was available, 19(86.4%) had type 2 diabetes and only 3(13.6%) had type 1 diabetes. Conclusion: Four out of every ten patients with type 1 diabetes in the paediatric age group, have a first- degree relative with a positive family history of diabetes.


2011 ◽  
Vol 57 (5) ◽  
pp. 9-14
Author(s):  
E O Khennessi ◽  
Ia S Zvereva ◽  
S M Stepanova ◽  
A V Il'in ◽  
T L Kuraeva ◽  
...  

We have studied the frequency of antibodies, markers of coeliac disease, in the children presenting with type 1 diabetes mellitus and obtained clinical and metabolic characteristics of seropositive and seronegative groups. The study included 499 diabetic children and adolescents admitted to the Pediatric Department of the Endocinological Research Centre. They were examined for the presence of anti-gliadin antibodies (anti-GL) and antibodies against tissue transglutaminase (anti-TG). These serological markers of coeliac disease were detected in 7.4% of the patients. More specific anti-TG occurred in 3.2% of the cases. As many as 29.7% of the seropositive patients with DM1 had gastrointestinal symptoms, such as stool disturbances, abdominal distension and pain, vomiting, and reduced appetite. Similar symptoms were documented in 11.7% of the seronegative children. Iron deficiency anemia was diagnosed in 24.3 and 8.6% of the seropositive and seronegative patients respectively (p<0.05). There was no significant difference between the children with type 1 diabetes mellitus having serological markers of coeliac disease and the seronegative patients in terms of anthropometric characteristics, plasma levels of glycated hemoglobin and vitamin D. It is concluded that the presence of serological markers of coeliac disease is association with a number of clinical manifestations confirms the necessity of immunological screening for coeliac disease among patients with DM1.


2013 ◽  
Author(s):  
Parthasarathy Lavanya ◽  
Khadilkar Anuradha ◽  
Ekbote Veena ◽  
Chiplonkar Shashi ◽  
Mughal Zulf ◽  
...  

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 795-P
Author(s):  
DALIA DALLE ◽  
SARINE G. SHAHMIRIAN ◽  
MARYANN O'RIORDAN ◽  
TERESA N. ZIMMERMAN ◽  
JAMIE R. WOOD

2020 ◽  
Vol 33 (10) ◽  
pp. 1299-1305
Author(s):  
Daniel Zamanfar ◽  
Mohsen Aarabi ◽  
Monireh Amini ◽  
Mahila Monajati

AbstractObjectivesType 1 diabetes is an autoimmune disease. Its most important immunologic markers are pancreatic beta-cell autoantibodies. This study aimed to determine diabetes mellitus antibodies frequency among children and adolescents with type 1 diabetes.MethodsThis descriptive study evaluated the frequency of four diabetes autoantibodies (glutamic acid decarboxylase 65 autoantibodies [GADA], islet cell autoantibodies [ICA], insulin autoantibodies [IAA], tyrosine phosphatase–like insulinoma antigen-2 antibodies [IA-2A]) and their serum level in children and adolescents diagnosed with type 1 diabetes mellitus at the diabetes department of Bou-Ali-Sina Hospital and Baghban Clinic, Sari, Iran, from March 2012 to March 2018. The relationship between the level of different antibodies and age, gender, and diabetes duration were determined. A two-sided p value less than 0.05 indicated statistical significance.ResultsOne hundred forty-two eligible patient records were screened. The average age at diabetes diagnosis was 4.2 ± 4.4 years. The median duration of diabetes was 34.0 (12.7–69.7) months. 53.5% of patients were female, and 81.7% of them had at least one positive autoantibody, and ICA in 66.2%, GADA in 56.3%, IA-2A in 40.1%, and IAA in 21.8% were positive. The type of the autoantibodies and their serum level was similar between females and males but there was a higher rate of positive autoantibodies in females. The level of IA-2A and ICA were in positive and weak correlation with age at diagnosis.ConclusionsMore than 80% of pediatric and adolescent patients with type 1 diabetes were autoantibody-positive. ICA and GADA were the most frequently detected autoantibodies. The presence of antibodies was significantly higher in females.


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