{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:57:19Z","timestamp":1790776639099,"version":"4.1.0"},"reference-count":45,"publisher":"American Physiological Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Gastrointestinal and Liver Physiology"],"published-print":{"date-parts":[[2014,6,15]]},"abstract":"<jats:p> Our aim was to conduct a pilot case-control study of RNA expression profile using RNA sequencing of rectosigmoid mucosa of nine females with -diarrhea-predominant irritable bowel syndrome (IBS-D) with accelerated colonic transit and nine female healthy controls. Mucosal total RNA was isolated and purified, and next-generation pair-end sequencing was performed using Illumina TruSeq. Analysis was carried out using a targeted approach toward 12 genes previously associated with IBS and a hypothesis-generating approach. Of the 12 targeted genes tested, patients with IBS-D had decreased mRNA expression of TNFSF15 (fold change controls to IBS-D: 1.53, P = 0.01). Overall, up- and downregulated mRNA expressions of 21 genes ( P = 10<jats:sup>\u22125<\/jats:sup> to 10<jats:sup>\u22128<\/jats:sup>; P values with false detection rates are shown) were potentially relevant to IBS-D including the following: neurotransmitters [ P2RY4 ( P = 0.001), vasoactive intestinal peptide ( VIP, P = 0.02)]; cytokines [ CCL20 ( P = 0.019)]; immune function [ C4BPA complement cascade ( P = 0.0187)]; interferon-related [ IFIT3 ( P = 0.016)]; mucosal repair and cell adhesion [trefoil protein ( TFF1, P = 0.012)], retinol binding protein [ RBP2 ( P = 0.017)]; fibronectin ( FN1, P = 0.009); and ion channel functions [guanylate cyclase ( GUCA2B, P = 0.017), PDZ domain-containing protein 3 ( PDZD3, P = 0.029)]. Ten genes associated with functions related to pathobiology of IBS-D were validated by RT-PCR. There was significant correlation in fold changes of the selected genes ( Rs = 0.73, P = 0.013). Up- or downregulation of P2RY4, GUC2AB, RBP2, FNI, and C4BPA genes were confirmed on RT-PCR, which also revealed upregulation of farnesoid X receptor ( FXR) and apical sodium-coupled bile acid transporter ( IBAT\/ASBT). RNA-Seq and RT-PCR analysis of rectosigmoid mucosa in IBS-D show transcriptome changes that provide the rationale for validation studies to explore the role of mucosal factors in the pathobiology of IBS-D. <\/jats:p>","DOI":"10.1152\/ajpgi.00068.2014","type":"journal-article","created":{"date-parts":[[2014,4,25]],"date-time":"2014-04-25T01:49:36Z","timestamp":1398390576000},"page":"G1089-G1098","source":"Crossref","is-referenced-by-count":56,"title":["RNA sequencing shows transcriptomic changes in rectosigmoid mucosa in patients with irritable bowel syndrome-diarrhea: a pilot case-control study"],"prefix":"10.1152","volume":"306","author":[{"given":"Michael","family":"Camilleri","sequence":"first","affiliation":[{"name":"Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.) and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Carlson","sequence":"additional","affiliation":[{"name":"Clinical Enteric Neuroscience 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