论文标题
人腺苷受体基因的神经遗传学：遗传结构和参与脑疾病
Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases
论文作者
论文摘要
腺苷受体是大多数哺乳动物系统中参与广泛生理和病理现象的G蛋白偶联受体。所有四个受体在中枢神经系统中均广泛表达，它们调节神经递质释放和神经元可塑性。大量基因关联研究表明，腺苷受体的常见遗传变异（由adora1，adora2a，adora2a，adora2b和adora3基因编码）具有神经保护性或神经退行性的作用在神经/精神疾病中。最近报道了罕见变异和与抑郁症或癫痫亚型的新型遗传研究。在这里，我们回顾了人类神经和/或精神疾病中腺苷受体遗传学的文献，并讨论了进一步遗传研究的观点。 We also provide an update on the genetic structures of the four human adenosine receptor genes and their regulation - a topic that has not been extensively addressed.我们的综述强调了（i）更好地表征腺苷受体基因遗传学的重要性，以及（ii）了解这些基因的调节方式。
Adenosine receptors are G-protein-coupled receptors involved in a wide range of physiological and pathological phenomena in most mammalian systems. All four receptors are widely expressed in the central nervous system, where they modulate neurotransmitter release and neuronal plasticity. A large number of gene association studies have shown that common genetic variants of the adenosine receptors (encoded by the ADORA1, ADORA2A, ADORA2B and ADORA3 genes) have a neuroprotective or neurodegenerative role in neurologic/psychiatric diseases. New genetic studies of rare variants and few novel associations with depression or epilepsy subtypes have recently been reported. Here, we review the literature on the genetics of adenosine receptors in neurologic and/or psychiatric diseases in humans, and discuss perspectives for further genetic research. We also provide an update on the genetic structures of the four human adenosine receptor genes and their regulation - a topic that has not been extensively addressed. Our review emphasizes the importance of (i) better characterizing the genetics of adenosine receptor genes and (ii) understanding how these genes are regulated.
