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Genetic epidemiology of irritable bowel syndrome.

ABSTRACT: Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder characterized by presence of abdominal pain or discomfort associated with altered bowel habits. It has three main subtypes - constipation predominant IBS (C-IBS), diarrhea predominant IBS (D-IBS) and IBS with mixed features of both diarrhea as well as constipation (M-IBS). Its pathophysiology and underlying mechanisms remain elusive. It is traditionally believed that IBS is a result of multiple factors including hypersensitivity of the bowel, altered bowel motility, inflammation and stress. Initial studies have shown familial aggregation of IBS suggesting shared genetic or environmental factors. Twin studies of IBS from different parts of world have shown higher concordance rates among monozygotic twins than dizygotic twins, and thus suggesting a genetic component to this disorder. Multiple studies have tried to link single-nucleotide polymorphisms (SNPs) to IBS but there is little evidence that these SNPs are functional. Various molecules have been studied and investigated by the researchers. Serotonin, a known neurotransmitter and a local hormone in the enteric nervous system, has been most extensively explored. At this time, the underlying gene pathways, genes and functional variants linked with IBS remain unknown and the promise of genetically-determined risk prediction and personalize medicine remain unfulfilled. However, molecular biological technologies continue to evolve rapidly and genetic investigations offer much promise in the intervention, treatment and prevention of IBS.

SUBMITTER: Makker J

PROVIDER: S-EPMC4616211 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background: Understanding the prescribing patterns could better inform irritable bowel syndrome (IBS) management and health policy. However, there is no study on prescribing patterns of IBS in Taiwan. This study was conducted to evaluate the epidemiology, clinical features, and prescribing patterns of IBS in Taiwan. Methods: This population-based cross-sectional study was performed by retrieving claim data from National Health Insurance Research Database (NHIRD) between 2011 and 2018 in Taiwan. Patients who were diagnosed with IBS during 2012-2018 and more than 20 years old were included. The annual incidence and prevalence of IBS were estimated. The characteristics and prescribing pattern were evaluated among IBS population. The population with IBS were followed from index date until 1 year after or death. Results: A total of 1691596 patients diagnosed with IBS were identified from 2012 to 2018. The average annual incidence and prevalence of IBS in Taiwan were calculated as 106.54 and 181.75 per 10,000 population. The incidence and prevalence showed a decreasing trend from 2012 to 2018. Hypertension, dyslipidemia, chronic liver disease, peptic ulcer, gastroesophageal reflux disease (GERD), anxiety, and sleep disorder were the prevalent comorbidities in IBS population. At 1 year after IBS diagnosis, the rates of peptic ulcer and GERD; the utilizations of abdominal ultrasonography, upper gastrointestinal (GI) endoscopy, and lower GI endoscopy; the prescribing rate of propulsives, simethicone, antacids, H2-blockers, and proton pump inhibitors significantly increased. Approximately 70% of participants received IBS-related treatment. Antispasmodics was the most frequently prescribed medication class, followed by laxatives and antidiarrheals. Only 48.58% of patients made return visit for IBS at 1 year after IBS diagnosis. Consequently, the proportion of consultation for IBS and the prescribing rates of all medications were decreased considerably after IBS diagnosis. Conclusion: The incidence and prevalence of IBS showed a decreasing trend from 2012 to 2018. More than two-third of patients received treatment for IBS. Antispasmodics was widely used for IBS management. However, patients may have a short symptom duration or receive a short course of IBS-related treatment in Taiwan. These findings provided the whole picture of the epidemiology and prescribing pattern of the IBS population in Taiwan.

Project description:BackgroundThe intestinal microbiota is thought to be involved in the occurrence of inflammatory bowel disease in remission with irritable bowel syndrome (IBS)-type symptoms, but the specific distinct profile of these bacteria remains unclear. This cross-sectional study aims to investigate the fecal microbiota profiling in patients with these diseases.MethodsFecal samples from 97 subjects, including Crohn's disease patients in remission with IBS-type symptoms (CDR-IBS+) or without IBS-type symptoms (CDR-IBS-), ulcerative colitis patients in remission with IBS-type symptoms (UCR-IBS+) or without IBS-type symptoms (UCR-IBS-), IBS patients and healthy controls, were collected and applied 16S ribosomal DNA (rDNA) gene sequencing. The V4 hypervariable regions of 16S rDNA gene were amplified and sequenced by the Illumina MiSeq platform. The differences in the sample diversity index in groups were analyzed with R software.ResultsThe richness of the intestinal microbiota in the CDR-IBS group was markedly lower than those in the control and IBS groups based on the analysis of observed species and the Chao index (P < 0.05). The observed species index in the CDR-IBS+ group was higher than that in the CDR-IBS- group (median index: 254.8 vs 203, P = 0.036). No difference was found in alpha diversity between UCR patients with IBS-type symptoms and those without related symptoms. At the genus level, the number of Faecalibacterium in CDR patients with IBS-type symptoms increased significantly, while Fusobacterium decreased versus those without such symptoms (mean relative abundance of Faecalibacterium: 20.35% vs 5.18%, P < 0.05; Fusobacterium: 1.51% vs 5.2%, P < 0.05). However, compared with the UCR-IBS- group, the number of Faecalibacterium in the UCR-IBS+ group decreased, while the number of Streptococcus increased, but there was no significant difference in the genus structure. The abundance and composition of the microbiota of IBS patients were not distinct from those of healthy controls.ConclusionsThe IBS-type symptoms in CD patients in remission may be related to an increase in Faecalibacterium and a decrease in Fusobacterium. The IBS-type symptoms in UC patients in remission cannot be explained by changes in the abundance and structure of the intestinal microbiota.

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Genetic epidemiology of irritable bowel syndrome.

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