Down the line from genome-wide association studies in inflammatory bowel disease: the resulting clinical benefits and the outlook for the future

Spekhorst, Lieke M.; Visschedijk, Marijn C.; Weersma, Rinse K.; Festen, Eleonora A. M.

doi:10.1586/1744666x.2015.990439

Cited by 13 publications

(10 citation statements)

References 101 publications

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“…The IL-23R pathway is one of the most extensively studied risk pathways for IBD, and variants of the IL23R gene might be protective or cause an inappropriate immune response to the commensal flora of the gut. 52 Downstream genes of the IL-23R pathway, including IL22, IL17A, and IL17F, have also been identified as IBD risk loci and found to be overexpressed in colonic mucosa in patients with CD and those with ulcerative colitis. 52,53 Indeed, targeting IL-23/IL-12 with ustekinumab is beneficial for patients with CD who do not respond to anti-TNF therapy.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D downregulates the IL-23 receptor pathway in human mucosal group 3 innate lymphoid cells

Kónya

Czarnewski

Forkel

et al. 2018

Journal of Allergy and Clinical Immunology

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Section: Discussionmentioning

confidence: 99%

Vitamin D downregulates the IL-23 receptor pathway in human mucosal group 3 innate lymphoid cells

Kónya

Czarnewski

Forkel

et al. 2018

Journal of Allergy and Clinical Immunology

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“…Even more challenging is the fact that for duodenal ulcer, the Hp infection is in the antral mucosa and not the duodenal mucosa [14]. Parallel to gastric and duodenal peptic ulcer diseases, there are similarities and differences between ulcerative colitis and Crohn's disease, which raise the question whether IBD is one or two diseases or even represents a large group of diseases [15].…”

Section: Etiology and Pathogenesis Of Ulcerative Colitismentioning

confidence: 99%

5-Aminosalicylic acid, a specific drug for ulcerative colitis

Hauso

Martinsen

Waldum

2015

Scandinavian Journal of Gastroenterology

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5-ASA seems to have a specific effect on the inflammation in ulcerative colitis. Research on the mechanism of its action may give information on the etiology of ulcerative colitis. 5-ASA is a first-line treatment that should be given once daily in high doses and for long term to reduce the possibility of recurrence and risk of colonic cancer. Side effects with 5-ASA are rare, and every patient with ulcerative colitis who tolerate this drug, should be treated with 5-ASA.

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“…The first successful study was reported in 1996 by Hugot et al [125], who screened two consecutive and independent panels of families with 40 affected sibling pairs and identified a putative CD-susceptibility IBD1 locus on chromosome 16, which contains the NOD2 coding gene [126]. Since then, GWAS and subsequent deep resequencing and meta-analysis has led to the identification of 163 IBD susceptibility loci [3,[127][128][129][130]. A recent study of CD in a Korean population revealed another three new susceptibility loci [131].…”

Section: Genetically Predisposed Gene Mutations and Polymorphismsmentioning

confidence: 99%

Molecular Analysis of Inflammatory Bowel Disease: Clinically Useful Tools for Diagnosis, Response Prediction, and Monitoring of Targeted Therapy

Jiang

2015

Mol Diagn Ther

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Biomarkers of inflammatory bowel disease (IBD) are non-invasive or minimally invasive tests for IBD diagnosis and/or prognosis as well as assessment of disease activity and response to therapy. Here, we update the current status of IBD biomarkers, including serological, fecal, and genetic (DNA and microRNA [miRNA]) biomarkers. As an update, the classical serological biomarkers, including ASCA, pANCA, anti-OmpC, anti-Cbir, anti-I2, and other anti-glycan antibodies, are discussed only briefly. Emphasis in this article is given to those that have been recently identified or extensively characterized, as well as to the clinical utilities of biomarkers, with special attention to prediction of disease complication and activity assessment, mucosal healing, and response to therapies. In particular, we discuss the utilities of blood-based biomarkers predicting therapeutic response to anti-tumor necrosis factor (TNF)-α, such as anti-anti-TNFα antibodies or anti-drug antibodies (ADA) and trough level of anti-TNFα. Fecal biomarkers, which have recently attracted substantial attention, are also discussed extensively, including the well-characterized calprotectin and lactoferrin, as well as the recently characterized M2-PK, CHI3L1, neopterin, MMP-9, and HMGB1. Genome and exome sequencing enables the discovery of a number of rare yet disease-defining IBD-susceptible genes, particularly those involved in very early onset IBD, providing rare yet extremely useful biomarkers at genetic levels for IBD diagnosis/prognosis. Finally, we briefly summarize the discovery, characterization, and potential implications of miRNA as potential IBD biomarkers.

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Down the line from genome-wide association studies in inflammatory bowel disease: the resulting clinical benefits and the outlook for the future

Cited by 13 publications

References 101 publications

Vitamin D downregulates the IL-23 receptor pathway in human mucosal group 3 innate lymphoid cells

Vitamin D downregulates the IL-23 receptor pathway in human mucosal group 3 innate lymphoid cells

5-Aminosalicylic acid, a specific drug for ulcerative colitis

Molecular Analysis of Inflammatory Bowel Disease: Clinically Useful Tools for Diagnosis, Response Prediction, and Monitoring of Targeted Therapy

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