Abstrato

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

Anna Aureli, Pierluigi Sebastiani, Tiziana Del Beato, Alessia Colanardi, Marta Grannonico, Anna Elvira Marimpietri, Enzo Sechi, Silvia Di Loreto*

Aim: To evaluate the influence of pro-inflammatory cytokine interleukin-1β (IL-1β) and growth factor neuregulin-1 (NRG-1) and of their interactions in the risk of intellectual disability aetiology.

Methods: IL-1β 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-1β serum evaluation was done by enzyme-linked-immunosorbent- assay (ELISA).

Results: Our findings indicate that both the IL-1β variants are associated to ID. Moreover, analysis of gene-gene interaction suggests that there is an interaction between IL-1β and NRG-1 in ID risk. Measuring IL-1β levels we evidenced higher IL-1β serum concentration in ID patients than in controls. Conclusion: IL-1β 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.