Related Experiment Video
Updated: Apr 27, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
T300A genetic polymorphism: a susceptibility factor for Crohn's disease?
Bruno Lorenzo Scolaro1, Emily dos Santos1, Leslie Ecker Ferreira1
1Universidade da Região de Joinville - UNIVILLE, Joinville, SC, Brasil.
Context:
Crohn's disease is characterized by a chronic and debilitating inflammatory disorder of the gastrointestinal tract. Several factors may contribute to its development. From extensive studies of the human genome, the polymorphism T300A of the gene ATG16L1 (autophagy-related 16-like 1) has been related to increased risk of developing this disease.
Objectives:
Analyze the role of polymorphism T300A (rs2241880) in patients with Crohn's disease.
Methods:
238 samples from (control group) and 106 samples from patients with Crohn's disease recruited at five Southern Brazilian reference centers were evaluated. The genotyping consisted of the amplification via Polymerase Chain Reaction of the genomic segment encompassing T300A, followed by Restriction Fragment Length Polymorphism analysis. The amplicons and fragments were separated by agarose gel electrophoresis and confirmed under ultraviolet light.
Results:
The genotype AG was more prevalent among patients and controls (50% vs 44.8%), followed by genotypes AA (26.4% vs 35.1%) and GG (23.6% vs 20.1%). The frequency of the allele G of the polymorphism T300A was higher in the group of patients with Crohn's disease (48.6%) than in controls (42.4%), although not reaching statistical significance.
Conclusions:
It was not possible to confirm the increased susceptibility on development of Crohn's disease conferred by polymorphism T300A.
More Related Videos
06:21Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
Related Concept Videos
Inflammatory Bowel Disease III: Crohn's Disease
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters