Genetic aspect (with SNPs) of irritable bowel syndrome

Abstract Irritable bowel syndrome (IBS) is one of the most common gastrointestinal (GI) diseases with unknown etiology. Genetic, environmental and physiological factors can contribute to IBS pathophysiology. Genetic predisposition to IBS was suggested by several familial and twin studies. Mutations within genes encoding Voltage-Gated Sodium Channel NaV1.5 and NaV1.9 have also been found in IBS sufferers. In addition, many studies proved association between single nucleotide polymorphisms (SNPs) and IBS etiology. SNPs located on serotonin transporter (SERT), serotonin receptors (HTR3A, HTR3E, HTR2A, HTR4), tumor necrosis factor superfamily member 15 (TNFSF15) and interleukin 10 (IL-10) genes are the best characterized genetic variations in the context of IBS. In this chapter, we focused on genetic aspect of IBS as well as we briefly described the most common SNPs, which may have an association with this disease.