Abstract
ObjectiveIrritable bowel syndrome (IBS) is a common clinical gastrointestinal dysfunction disorders. 5-sertonon (5-hydroxytryptamine, 5-HT) is a very important neurotransmitter, which is involved in gastrointestinal motion and sensation. Solute carrier family 6 member 4 (SLC6A4) gene encode serotonin transporter (SERT) which function is to rapidly reuptake the most of 5-HT. Therefore, it is needed to explore the association between SLC6A4 gene polymorphisms and IBS.Methods119 patients and 238 healthy controls were administrated to detect the SLC6A4 gene polymorphisms including 5-HT-transporter-gene-linked polymorphic region (5-HTTLPR), variable number of tandem repeats (VNTRs) and three selected tag Single Nucleotide Polymorphisms (SNPs) rs1042173, rs3794808, rs2020936 by using polymerase chain reaction (PCR) and TaqMan® SNP Genotyping.ResultsThere were significant difference for 5-HTTLPR between IBS and control groups (X2 = 106.168, P<0.0001). In control group, genotypes were mainly L/L (58.4%), however, the genotypes in IBS were S/S (37.8%). The significant difference was shown in D-IBS subjects when compared to the controls (X2 = 50.850, P<0.0001) for 5-HTTLPR. For STin2 VNTR, rs1042173, rs3794808, and rs2020936 polymorphisms, there were no any significant differences between IBS and control groups. There were no statistical significantly haplotypes for 5-HTTLPR, VNTRs and the three SNPs between IBS and controls.ConclusionThe S allele in 5-HTTLPR was a susceptible allele with Chinese Han IBS, but other associations of VNTRs, three selected Tag SNPs and positive haplotype with IBS were not found. It is indicated that much research are needed to study the relationship between other polymorphisms in SLC6A4 gene and IBS.
Highlights
Irritable bowel syndrome (IBS) is a chronic gastrointestinal disorder with that affects 10–15% of the population [1]
These patients were further screened by two gastroenterologists with more than 20 years of specialist experience in the research team and were considered eligible to join the study, if they satisfied the inclusion criteria: they had to be the age between 18 and 65 years old, and had to fulfill the Rome III consensus criteria for the diagnosis of IBS
In a meta-analysis [17], there is no association between the genetic polymorphism in the serotonin transporter (SERT)-P gene and IBS, in Asians, majority of patients were homozygous for the short allele (64%)
Summary
Irritable bowel syndrome (IBS) is a chronic gastrointestinal disorder with that affects 10–15% of the population [1]. Studies have shown that genes may play an important role in IBS. Genetic factors may be directly linked to gastrointestinal sensory and motor functions or cause initiation of the modifications underlying the symptoms in the presence of exogenous factors [2]. 5-HT acts as a paracrine signalling molecule and as a transmitter released by serotonergic interneurons. Serotonin activates at least five types of receptors, influencing intestinal peristalsis, secretion and signalling in the brain-gut axis. A high level of 5-HT may result from exaggerated synthesis, excessive release, or inadequate uptake and inactivation. Modifications in the serotonin transporter, responsible for removing 5HT from the interstitial space and terminating its action, may contribute to gastrointestinal motility troubles [3]. 5-HT is thought to play a key role in the pathophysiology of IBS [4,5]
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