Study of PTPN22 C1858T Polymorphism in Children and Adolescents of Greek Origin With T1DM

Aristotle University Of Thessaloniki200 enrolled

Overview

The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase (LYP) which is an important downregulatory factor of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with T1DM in different Caucasian populations. In this observational case-control study, we aimed at confirming the role of PTPN22, C1858T polymorphism in T1DM predisposition in a Greek population.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Type 1 Diabetes Mellitus

Eligibility

Sex: ALLMin age: 3 YearsMax age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: For the patients * Diagnosis of T1DM according to American Diabetes Association (ADA) Criteria as well as according to International Society for Pediatric and Adolescent Diabetes (ISPAD) Guidelines * Unrelated male and female subjects * 1-20 years of age * Come from Greece (At least 3 grandparents are Greek) * At least one year post onset of T1DM * Sign written informed consent Inclusion Criteria: For the controls * Unrelated nondiabetic male and female subjects with no family history of T1DM * Equal to or greater than 18 years of age * Come from Greece (At least 3 grandparents are Greek) * Be screened by a questionnaire to ensure the absence of any diagnostic evidence of autoimmune diseases or family history (first- or second-degree relatives) of T1DM * Sign written informed consent Exclusion Criteria: For the patients •Subjects who do not meet the criteria above Exclusion Criteria: For the controls •Subjects who do not meet the criteria above

Locations (1)

Unit of Pediatric Endocrinology, Diabetes and Metabolism, 4th Department of Pediatrics, Medical School, Aristotle University of Thessaloniki

Thessaloniki, Greece

Outcomes

Primary Outcomes

• Difference of distribution of PTPN22 C1858T alleles between patients and controls of Greek origin

Time frame: 3 years

Secondary Outcomes

• The association between PTPN22 C1858T polymorphism among patients and gender

Time frame: 3 years

• The association between PTPN22 C1858T polymorphism among patients and age of onset of type 1 diabetes mellitus (T1DM)

Time frame: 3 years

• The association between the PTPN22 C1858T polymorphism among patients and presence of autoantibodies

Time frame: 3 years

Data from ClinicalTrials.gov

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