IL-1Β POLYMORPHISMS AND ITS INTERACTION WITH NRG-1 ON THE RISK OF INTELLECTUAL DISABILITY
Journal Title: INTERNATIONAL JOURNAL OF PURE MEDICAL RESEARCH - Year 2017, Vol 2, Issue 5
Abstract
Trophic factors and cytokines are involved in neural development and regulate neurotransmission. In particular, interleukin-1β (IL-1β) and neuregulin-1 (NRG-1)have been recognized to play a key role in activity-dependent maturation and plasticity of excitatory synaptic structure and function. Genetic functional dysregulations of these molecules could impair neuronal processes inuencing cognitive development and may have a wide range of neurological consequences. Here we studied the impact ofIL-1β rs16944(- 511 T>C), rs1143634(+3962 C>T ), NRG-1rs6994992, NRG- 1rs35753505 and ErbB4 rs7598440 polymorphisms on the risk of cognitive impairment in children affected by mild/moderate intellectual disability (ID). Our ndings 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.
Authors and Affiliations
Dr. Anna Aureli, Mr. Pierluigi Sebastiani, Mrs. Tiziana Del Beato, Dr. Alessia Colanardi, Dr. Marta Grannonico, Dr. Enzo Sechi, Dr. Silvia Di Loreto
Keywords
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- EP ID EP597519
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