Do polymorphisms in the human 5-HT3 genes contribute to pathological phenotypes?
Do polymorphisms in the human 5-HT3 genes contribute to pathological phenotypes?
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DOI：
10.1042/bst0340872
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发表时间：
2006-11-01
影响因子：
3.9
通讯作者：
Krzywkowski, K.
中科院分区：
文献类型：
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作者：
Krzywkowski, K.
5-HT3受体是配体门控离子通道Cys-loop超家族的成员。在中枢和外周神经系统中，5-HT3受体刺激突触后细胞并调节突触前神经元的神经递质释放。已知5-HT3受体参与化疗/放疗和麻醉引起的恶心/呕吐的介导，最近也发现与肠易激综合征有关。5-HT3受体也被认为在一系列其他适应症中发挥作用，包括各种精神疾病。本文综述了目前相关研究中关于5-HT3亚基基因对疾病表型贡献的证据。此外，它表明如何在体外表征自然发生的遗传变异可以用来更好地了解基因和疾病之间的因果关系。
5-HT3 receptors are members of the Cys-loop superfamily of ligand-gated ion channels. in both the central and the peripheral nervous systems, 5-HT3 receptors excite postsynaptic cells and modulate the release of neurotransmitters from presynaptic neurons. 5-HT3 receptors are known to be involved in mediation of nausea/emesis caused by chemo/radio-therapy and anaesthesia, and more recently have also been found to be involved in irritable bowel syndrome. 5-HT3 receptors have also been suggested to play a role in a range of other indications, including various psychiatric disorders. This review summarizes the current evidence for the contribution of 5-HT3 subunit genes to disease phenotypes arising from association studies. Furthermore, it suggests how in vitro characterization of naturally occurring genetic variants can be used to obtain a better understanding of the causal relationship between gene and disease.