Figure 2.
Summary of genetic associations that have been explored to date in patients with functional gastrointestinal disorders, predominantly IBS, provide a model of the candidate mechanisms involved in the motor and sensory disorders associated with IBS. Thus, NPSR1 may enhance barrier permeability, 5-HTTLPR alter the reuptake of 5-HT released from enteroendocrine cells in response to chemical or mechanical stimuli in the lumen, adrenergic receptors alter sympathetic input, and cannabinoid mechanisms (through changes in the function of the rate-limiting enzyme for anandamide, fatty acid amide hydrolase, FAAH) alter cholinergic supply to the smooth muscle cell. Moreover, the function of the myocyte is influenced by energy generation that depends on mitochondrial DNA.
