IL-1beta polymorphisms and its interaction with Nrg-1 on the risk of intellectual disability

Aim: To evaluate the influence of pro-inflammatory cytokine interleukin-1? (IL-1?) and growth factorneuregulin-1 (NRG-1) and of their interactions in the risk of intellectual disability aetiology.Methods: IL-1? rs16944(-511 T>C), rs1143634(+3962 C>T), NRG-1 rs6994992, NRG-1 rs35753505 andErbB4 rs7598440 polymorphisms were studied by PCR-SSP and SBT methods in a populationcomposed by 45 patients with mild/moderate intellectual disability and 31 healthy subjects perfectlymatched for age, gender and ethnicity. IL-1? serum evaluation was done by enzyme-linked-immunosorbent-assay (ELISA).Results: Our findings indicate that both the IL-1? variants are associated to ID. Moreover, analysis ofgene-gene interaction suggests that there is an interaction between IL-1? and NRG-1 in ID risk.Measuring IL-1? levels we evidenced higher IL-1? serum concentration in ID patients than in controls.Conclusion: IL-1? and NRG-1 have been recognized to play a key role in activity-dependentdevelopment, and plasticity of synaptic structure and function. Genetic functional dysregulations ofthese molecules could impair neuronal processes influencing cognitive development and may have awide range of neurological consequences. In this view our results can constitute a start point forfurther investigations and provide information to develop future projects and to planning strategiesfor early identify and managing ID.