Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review

Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the digestive tract usually characterized by diarrhea, rectal bleeding, and abdominal pain. IBD includes Crohn’s disease and ulcerative colitis as the main entities. IBD is a debilitating condition that can lead to life-threateni...

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Main Authors: Javier Plaza, Alejandro Mínguez, Guillermo Bastida, Remedios Marqués, Pilar Nos, Jose Luis Poveda, Inés Moret-Tatay
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/25/7/3717
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author Javier Plaza
Alejandro Mínguez
Guillermo Bastida
Remedios Marqués
Pilar Nos
Jose Luis Poveda
Inés Moret-Tatay
author_facet Javier Plaza
Alejandro Mínguez
Guillermo Bastida
Remedios Marqués
Pilar Nos
Jose Luis Poveda
Inés Moret-Tatay
author_sort Javier Plaza
collection DOAJ
description Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the digestive tract usually characterized by diarrhea, rectal bleeding, and abdominal pain. IBD includes Crohn’s disease and ulcerative colitis as the main entities. IBD is a debilitating condition that can lead to life-threatening complications, involving possible malignancy and surgery. The available therapies aim to achieve long-term remission and prevent disease progression. Biologics are bioengineered therapeutic drugs that mainly target proteins. Although they have revolutionized the treatment of IBD, their potential therapeutic benefits are limited due to large interindividual variability in clinical response in terms of efficacy and toxicity, resulting in high rates of long-term therapeutic failure. It is therefore important to find biomarkers that provide tailor-made treatment strategies that allow for patient stratification to maximize treatment benefits and minimize adverse events. Pharmacogenetics has the potential to optimize biologics selection in IBD by identifying genetic variants, specifically single nucleotide polymorphisms (SNPs), which are the underlying factors associated with an individual’s drug response. This review analyzes the current knowledge of genetic variants associated with biological agent response (infliximab, adalimumab, ustekinumab, and vedolizumab) in IBD. An online literature search in various databases was conducted. After applying the inclusion and exclusion criteria, 28 reports from the 1685 results were employed for the review. The most significant SNPs potentially useful as predictive biomarkers of treatment response are linked to immunity, cytokine production, and immunorecognition.
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spelling doaj.art-aa1a7dad8d8f4ccb9f947d5522f5a1122024-04-12T13:19:33ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-03-01257371710.3390/ijms25073717Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic ReviewJavier Plaza0Alejandro Mínguez1Guillermo Bastida2Remedios Marqués3Pilar Nos4Jose Luis Poveda5Inés Moret-Tatay6Inflammatory Bowel Disease Research Group, Health Research Institute La Fe (IIS La Fe), 46026 Valencia, SpainInflammatory Bowel Disease Research Group, Health Research Institute La Fe (IIS La Fe), 46026 Valencia, SpainInflammatory Bowel Disease Unit, Gastroenterology Department, La Fe University and Polytechnic Hospital, 46026 Valencia, SpainPharmacy Department, La Fe University and Polytechnic Hospital, 46026 Valencia, SpainInflammatory Bowel Disease Unit, Gastroenterology Department, La Fe University and Polytechnic Hospital, 46026 Valencia, SpainPharmacy Department, La Fe University and Polytechnic Hospital, 46026 Valencia, SpainInflammatory Bowel Disease Research Group, Health Research Institute La Fe (IIS La Fe), 46026 Valencia, SpainInflammatory bowel disease (IBD) is a chronic inflammatory disorder of the digestive tract usually characterized by diarrhea, rectal bleeding, and abdominal pain. IBD includes Crohn’s disease and ulcerative colitis as the main entities. IBD is a debilitating condition that can lead to life-threatening complications, involving possible malignancy and surgery. The available therapies aim to achieve long-term remission and prevent disease progression. Biologics are bioengineered therapeutic drugs that mainly target proteins. Although they have revolutionized the treatment of IBD, their potential therapeutic benefits are limited due to large interindividual variability in clinical response in terms of efficacy and toxicity, resulting in high rates of long-term therapeutic failure. It is therefore important to find biomarkers that provide tailor-made treatment strategies that allow for patient stratification to maximize treatment benefits and minimize adverse events. Pharmacogenetics has the potential to optimize biologics selection in IBD by identifying genetic variants, specifically single nucleotide polymorphisms (SNPs), which are the underlying factors associated with an individual’s drug response. This review analyzes the current knowledge of genetic variants associated with biological agent response (infliximab, adalimumab, ustekinumab, and vedolizumab) in IBD. An online literature search in various databases was conducted. After applying the inclusion and exclusion criteria, 28 reports from the 1685 results were employed for the review. The most significant SNPs potentially useful as predictive biomarkers of treatment response are linked to immunity, cytokine production, and immunorecognition.https://www.mdpi.com/1422-0067/25/7/3717inflammatory bowel diseasebiological drugsanti-tumor necrosis factorinfliximabadalimumabustekinumab
spellingShingle Javier Plaza
Alejandro Mínguez
Guillermo Bastida
Remedios Marqués
Pilar Nos
Jose Luis Poveda
Inés Moret-Tatay
Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
International Journal of Molecular Sciences
inflammatory bowel disease
biological drugs
anti-tumor necrosis factor
infliximab
adalimumab
ustekinumab
title Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
title_full Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
title_fullStr Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
title_full_unstemmed Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
title_short Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review
title_sort genetic variants associated with biological treatment response in inflammatory bowel disease a systematic review
topic inflammatory bowel disease
biological drugs
anti-tumor necrosis factor
infliximab
adalimumab
ustekinumab
url https://www.mdpi.com/1422-0067/25/7/3717
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