Related Experiment Video
Updated: Jan 30, 2026
07:24
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
2.0K
Deletion and Single Nucleotide Polymorphisms in Common Glutathione-S Transferases Contribute to Colorectal Cancer
Milica Lj Stojkovic Lalosevic1, Vesna M Coric2,3, Tatjana D Pekmezovic3,4
1Clinic of gastroenterology and hepatology, Clinical center of Serbia, Belgrade, 11000, Serbia.
Pathology Oncology Research : POR
|January 30, 2019
Summary
Glutathione-S transferase (GST) gene variants, particularly GSTT1-null and GSTP1-variant, are linked to increased colorectal cancer (CRC) risk. A specific combination of GST polymorphisms significantly elevates susceptibility to CRC development.
Area of Science:
- Genetics
- Oncology
- Biochemistry
Background:
- Glutathione-S transferases (GSTs) are crucial enzymes in detoxifying environmental carcinogens like heterocyclic aromatic amines and polycyclic aromatic hydrocarbons.
- These compounds are established risk factors for colorectal cancer (CRC) development.
- Genetic variations (polymorphisms) in GST genes can impair enzyme function, potentially influencing CRC carcinogenesis.
Purpose of the Study:
- To investigate the association between specific Glutathione-S transferase (GST) gene variants and the risk of developing colorectal cancer (CRC).
- To analyze the impact of individual and combined GST genotypes on CRC susceptibility.
Main Methods:
- Genotyping of GSTM1 and GSTT1 deletion polymorphisms using polymerase chain reaction (PCR).
- Genotyping of GSTA1 and GSTP1 single nucleotide polymorphisms (SNPs) via restriction fragment length polymorphism (RFLP).
- Statistical analysis to determine the association between GST genotypes and CRC risk in 523 CRC patients and 400 controls.
Main Results:
- Carriers of GSTT1-null and GSTP1-variant genotypes showed a significant individual association with increased CRC risk (p=0.050 and p=0.016, respectively).
- A combination of GSTP1-variant genotype with other common GST genotypes demonstrated a statistically significant association with CRC susceptibility.
- Patients with the combined GSTM1-null/GSTT1-null/GSTA1 low-activity/GSTP1-variant genotype exhibited a 2.71-fold increased risk of developing CRC (p=0.037).
Conclusions:
- GST gene polymorphisms play a significant role in the development of colorectal cancer.
- The combined genotype of GSTM1-null/GSTT1-null/GSTA1 low-activity/GSTP1-variant represents a high-risk profile for CRC development, indicating increased susceptibility in carriers.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
18.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.3K
01:08Nucleotide Excision Repair
40.8K
Overview
40.8K
01:38Nucleotide Excision Repair
5.1K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
5.1K
03:24Common Ion Effect
46.4K
Compared with pure water, the solubility of an ionic compound is less in aqueous solutions containing a common ion (one also produced by dissolution of the ionic compound). This is an example of a phenomenon known as the common ion effect, which is a consequence of the law of mass action that may be explained using Le Châtelier’s principle. Consider the dissolution of silver iodide:
46.4K
01:23Binet's Contribution to Measures of Intelligence
1.7K
Alfred Binet, along with his student Théophile Simon, was tasked by the French Ministry of Education in 1904 to create a method for identifying students who struggled to learn through conventional classroom instruction. This initiative aimed to address overcrowding by placing such students in specialized schools. Binet and Simon developed an intelligence test comprising 30 tasks, ranging from simple commands, like touching one's nose or ear, to more complex tasks, such as drawing...
1.7K
01:23Wechsler's Contribution to Measures of Intelligence
2.1K
David Wechsler, a psychologist who worked with World War I veterans, developed a significant IQ test in 1939 called the Wechsler-Bellevue Intelligence Scale. This test was innovative because it combined several subtests that measured both verbal and nonverbal skills, reflecting Wechsler's belief that intelligence is a global capacity involving purposeful action, rational thinking, and effective interaction with the environment. This test later evolved into the Wechsler Adult Intelligence...
2.1K