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

Study of Protein Tyrosine Phosphatase Non-receptor Type 22 (PTPN22) C1858T Polymorphism in Children and Adolescents of Greek Origin With Type 1 Diabetes Mellitus (T1DM)

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.

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