GENETIC VARIANTS AND PEDIATRIC AUTOIMMUNE DISEASE SUSCEPTIBILITY: AN IMMUNOGENETIC STUDY

Abstract

Paediatric autoimmune diseases (PADs) are a group of diseases which are described by the immune system as misdirected towards healthy tissues causing chronic inflammation and tissue destruction.  This research was aimed at analyzing the genetic differences connected with the predisposition to paediatric autoimmune diseases (PADs) in children.  Our study design was that of a case-control design whereby we used genetic data of 500 paediatric patients with autoimmune disorders, and balanced them with 500 healthy controls.  Whole-genome sequencing was conducted to identify changes in the potential genes of immune functioning.  We established that certain genetic variants correlated with an increased susceptibility to contracting autoimmune disorders in children.  The HLA-DRB1, PTPN22 and CTLA-4 gene variants were significantly linked to juvenile idiopathic arthritis (JIA), systemic lupus erythematosus (SLE) and type 1 diabetes (T1D).  We also observed that there are interactions between the genes and the environment which could influence the onset and progression of the disease further.  The findings can have a substantial contribution to the immunogenetic basis of PADs and can be used in future diagnostic and treatment options.