Do polymorphisms in the human 5-HT3 genes contribute to pathological phenotypes?
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.
Krzywkowski
K
K
Department of Medicinal Chemistry, The Danish University of Pharmaceutical Sciences, Copenhagen, Denmark. krz@dfuni.dk
D006801:Humans; D007091:Image Processing, Computer-Assisted; D043183:Irritable Bowel Syndrome / Q000235:genetics; D008958:Models, Molecular; D009325:Nausea / Q000139:chemically induced / Q000209:etiology / Q000235:genetics; D009474:Neurons / Q000502:physiology*; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation; D044406:Receptors, Serotonin, 5-HT3 / Q000737:chemistry / Q000235:genetics*
D044406:Receptors, Serotonin, 5-HT3