Related Experiment Video
Updated: Aug 20, 2026
Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
N-acetyltransferase 2 gene polymorphism in patients with colorectal carcinoma
Lülüfer Tamer1, Bahadir Ercan, Nurcan Aras Ateş
1Department of Biochemistry, Mersin University, Medical Faculty, Turkey. lutamer@yahoo.com
Abstract:
The acetylation polymorphism is a common inherited variation in human drug and carcinogen metabolism. Because N- acetyltransferase (NAT2) is important for the detoxification and/or bioactivation of drugs and carcinogens, polymorphisms of this gene have important implications in therapeutics of and susceptibility to cancer. In this study, NAT2 genotype (NAT2*5A (C(481)T), NAT2*6A (G(590)A), NAT2*7A/B (G(857)A)) and NAT2*14A (G(191)A) and phenotype were determined in 125 patients with colorectal carcinoma and 82 healthy control in Mersin, a city located in the southern region of Turkey. Isolation of the subjects' DNA was performed by using a highly purified PCR template preparation kit/(Roche Diagnostics cat. no: 1 796 828) and the NAT2 polymorphism was detected using real-time PCR (Roche Diagnostics, GmbH, Mannheim, Germany). According to this study high protein intake is associated with the increased risk for the development of colon cancer (OR = 1.73; 95% CI, 1.10-3.07). Although only NAT2*14A fast type was associated with increased risk in patients with colorectal carcinoma (OR = 3.03; 95% CI, 1.56-5.86), when a high protein diet was considered, NAT2*7A/B fast genotype was also found to be associated with an increased risk (OR = 2.06, 95% CI for NAT2*7A/B, 1.10-3.86; OR = 2.65; 95% CI, 1.29-5.46 for NAT2*14A). Smoking status did not differ between the control and patient groups. Our data suggest that exposure to carcinogens through consumption of a high-protein diet may increase the risk of colorectal carcinoma only in genetically-susceptible individuals.
Insights
Genetic variations in N-acetyltransferase (NAT2) influence colorectal cancer risk. High protein diets combined with specific NAT2 genotypes, like NAT2*14A, significantly increase susceptibility to colon cancer in genetically predisposed individuals.
Area of Science:
- Pharmacogenomics
- Cancer Epidemiology
- Human Genetics
Background:
- The N-acetyltransferase (NAT2) gene exhibits acetylation polymorphism, impacting drug and carcinogen metabolism.
- NAT2's role in detoxifying or activating substances makes its genetic variations crucial for cancer susceptibility and drug therapy.
- Colorectal carcinoma (CRC) risk is influenced by genetic and environmental factors, including diet and carcinogen exposure.
Purpose of the Study:
- To investigate the association between NAT2 genotypes (NAT2*5A, NAT2*6A, NAT2*7A/B, NAT2*14A) and phenotypes and colorectal carcinoma risk in a Turkish population.
- To evaluate the combined effect of NAT2 genotype and high protein intake on CRC development.
- To explore the role of NAT2 polymorphism in modulating the risk associated with dietary carcinogen exposure.
Main Methods:
- Genotyping of NAT2 polymorphisms (NAT2*5A, NAT2*6A, NAT2*7A/B, NAT2*14A) and phenotype determination in 125 CRC patients and 82 healthy controls.
- DNA isolation using a commercial kit and NAT2 polymorphism detection via real-time PCR.
- Statistical analysis including odds ratios (OR) and 95% confidence intervals (CI) to assess risk associations.
Main Results:
- High protein intake was significantly associated with an increased risk of colon cancer (OR = 1.73).
- The NAT2*14A fast genotype was independently linked to a higher risk of CRC (OR = 3.03).
- A combination of high protein diet and NAT2*7A/B or NAT2*14A fast genotypes further elevated CRC risk (OR = 2.06 and OR = 2.65, respectively).
Conclusions:
- Dietary exposure to carcinogens, particularly from high-protein diets, may increase colorectal cancer risk.
- This risk is significantly amplified in individuals with specific, genetically determined fast NAT2 genotypes (NAT2*7A/B and NAT2*14A).
- Genetic susceptibility, in conjunction with environmental factors like diet, plays a critical role in colorectal carcinoma development.
