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 factor neuregulin-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 and ErbB4 rs7598440 polymorphisms were studied by PCR-SSP and SBT methods in a population composed by 45 patients with mild/moderate intellectual disability and 31 healthy subjects perfectly matched 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 of gene-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-dependent development, and plasticity of synaptic structure and function. Genetic functional dysregulations of these molecules could impair neuronal processes influencing cognitive development and may have a wide range of neurological consequences. In this view our results can constitute a start point for further investigations and provide information to develop future projects and to planning strategies for early identify and managing ID.