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Adenosine receptors are G-protein-coupled receptors involved in a wide rangeof physiological and pathological phenomena in most mammalian systems. All fourreceptors are widely expressed in the central nervous system, where theymodulate neurotransmitter release and neuronal plasticity. A large number ofgene association studies have shown that common genetic variants of theadenosine receptors (encoded by the ADORA1, ADORA2A, ADORA2B and ADORA3 genes)have a neuroprotective or neurodegenerative role in neurologic/psychiatricdiseases. New genetic studies of rare variants and few novel associations withdepression or epilepsy subtypes have recently been reported. Here, we reviewthe literature on the genetics of adenosine receptors in neurologic and/orpsychiatric diseases in humans, and discuss perspectives for further geneticresearch. We also provide an update on the genetic structures of the four humanadenosine receptor genes and their regulation - a topic that has not beenextensively addressed. Our review emphasizes the importance of (i) bettercharacterizing the genetics of adenosine receptor genes and (ii) understandinghow these genes are regulated.

Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases