Type 1 diabetes is an autoimmune disease with onset, usually in the pediatric age , characterized by a strong genetic component .
The T1D panel analyzes 8 genetic polymorphisms (or SNPs) whose presence is associated with a greater probability of developing diabetic nephropathy. Genes with variants studied within the T1D panel are listed hereafter:
- HLA: gene that encodes the histocompatibility complex. HLAs play a key role in triggering the immune response, facilitating the recognition by the T lymphocytes of the antigen
- PHTF1: gene that encodes a protein that regulates the expression of other genes (transcription factor)
- PTPN22: gene that encodes a protein with enzymatic properties, involved in regulating the degree of response of T and B lymphocyte receptors
- NAA5: gene that encodes a protein that regulates the cell cycle
- ERBB3: gene encoding a portion of the epidermal growth factor receptor (Epidermal Growth Factor Receptor, EGFR)
- ENAH: gene that encodes a protein whose activity is related to cytoskeletal remodeling and cell polarity
- CLEC2D: gene that encodes the receptors on the surface of cells of the immune system, known as “natural killer”
- KIAA0350: is an intronic region (non-coding DNA for a protein) where some polymorphisms have been strongly associated with the onset of autoimmune diseases, including type 1 diabetes.
Recommended for anyone who wants to know genetic predisposition to the development of type 1 diabetes.
- Devendra, D., Liu, E. & Eisenbarth, G. S. Type 1 diabetes: recent developments. Br.Med. J. 328, 750–754 (2004).
- Hyttinen, V., Kaprio, J., Kinnunen, L., Koskenvuo, M. & Tuomilehto, J. Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: a nationwide follow-up study. Diabetes 52, 1052–1055 (2003).