Single Nucleotide Polymorphisms in Selected Genes in Inflammatory Bowel Disease.

Biomed Res Int

Chair of Medical Genetics, Department of Clinical Genetics, Medical University of Lublin, 20-080 Lublin, Poland.

Published: May 2019

AI Article Synopsis

  • Inflammatory bowel disease (IBD) includes chronic inflammation of the digestive tract, primarily categorized into ulcerative colitis and Crohn's disease, and the study aimed to identify genetic variations in affected patients.
  • Conducted in Lublin, Poland, in 2016, the research involved 27 participants, including 9 with Crohn's disease, 9 with ulcerative colitis, and 9 healthy controls, to analyze gene fragments.
  • The study found no significant genetic variations in one gene but identified a T>C substitution in a patient with Crohn's disease, suggesting this may influence the development of IBD and highlighting the need for larger-scale studies.

Article Abstract

Introduction: Inflammatory bowel disease (IBD) is a complicated, multifunctional disorder characterized by chronic, recurring inflammation of the digestive tract. The two main types of IBD are ulcerative colitis (UC) and Crohn's disease (CD). The aim of the study was to determine single nucleotide polymorphism in fragments of the genes and in patients from the Lublin Voivodeship.

Patients And Methods: The study was carried out in Lublin (Poland) in 2016. 27 individuals participated in the research. The research group comprised 9 patients with a diagnosis of Crohn's disease and 9 with ulcerative colitis, aged 20 to 48, and 9 healthy volunteers.

Results: No SNPs were confirmed for the gene fragment, but a substitution (T>C) was found in the gene in a Crohn's disease patient.

Conclusion: Absence of extraintestinal symptoms in patients with Crohn's disease may be associated with the absence of CARD15/NOD2 SNPs. The study suggests that SNPs (T>C substitution) affect the function of the DLG5 protein and thus play a role in the development of IBD, in particular Crohn's disease. The analysis presented is a pilot study due to the small number of samples.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311883PMC
http://dx.doi.org/10.1155/2018/6914346DOI Listing

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