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Updated: Jun 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Association of NAT2 polymorphism with risks to develop psoriasis and various dermatological diseases in Moscow
Abstract:
Ruacetyltransferase 2 (NAT2) is one of key enzymes of the second phase of biotransformation that metabolize genotoxic compounds such as carcinogens and mutagens in different types of cells. There is a correlation between the decreasing activity of NAT2 gene product and the sensitivity to harmful environmental factors that increase the risk of occurrence of different multifactorial diseases, including dermatological ones like psoriasis. We developed the NAT2-biochip for 17 SNPs. The biochip was been tested on 279 clinical DNA samples from 180 patients with psoriasis and 99 healthy individuals, residents of Moscow. We found only six SNPs that were significant for European populations (282C > T, 341T > C, 481C > T, 590G > A, 803A > G and 857G > A). The analysis in psoriasis group did not show any genotype association. The increase in frequency of a slow acetylation phenotype in group of patients with type II psoriasis and in group of patients with normosthenic constitution, in comparison with control group (OR = 1.76,p = 0.177 and OR = 2.07,p = 0.050, respectively) has been revealed. The results for patients smoking one or more pack of cigarettes per day, and daily alcohol drinking in comparison with the control showed an increase in frequency for the genotype 341C/C, 481T/T, 803G/G (OR = 7.42, p = 0.008 and OR = 106.11, p = 0.003, respectively). We also found an increase of frequency of genotype 341T/T, 481C/C, 590A/-, 803A/A in patients with side reactions to medical products comparing with group of healthy donors (OR = 2.05, p = 0.099). Thus, the present data show that the certain NAT2 genotypes and some styles of life can be considered as risk factors of psoriasis development in this muscovite population.
Insights
Certain N-acetyltransferase 2 (NAT2) genotypes and lifestyle factors like smoking and alcohol consumption are linked to increased psoriasis risk in a Moscow population. These genetic variations influence how the body processes environmental toxins, potentially contributing to disease development.
Area of Science:
- Pharmacogenomics
- Dermatology
- Biochemistry
Context:
- N-acetyltransferase 2 (NAT2) is crucial for metabolizing genotoxic compounds.
- Altered NAT2 activity correlates with increased susceptibility to multifactorial diseases, including psoriasis.
- Genetic variations in NAT2 may influence psoriasis development and severity.
Purpose:
- To investigate the association between NAT2 single nucleotide polymorphisms (SNPs) and psoriasis risk in a Moscow population.
- To identify specific NAT2 genotypes and lifestyle factors that contribute to psoriasis development.
- To analyze the prevalence of NAT2 genotypes and phenotypes in psoriasis patients compared to healthy individuals.
Summary:
- A NAT2-biochip was developed and tested on 279 DNA samples from individuals in Moscow.
- Six significant SNPs were identified for European populations, but no direct genotype association was found in the psoriasis group.
- Increased frequency of slow acetylation phenotype was observed in type II psoriasis patients and those with normosthenic constitution.
- Specific NAT2 genotypes (e.g., 341C/C, 481T/T, 803G/G) were associated with smoking and alcohol consumption.
- Certain genotypes (e.g., 341T/T, 481C/C, 590A/-, 803A/A) showed increased frequency in patients with adverse drug reactions.
Impact:
- Identifies specific NAT2 genotypes and lifestyle factors as potential risk factors for psoriasis in the studied population.
- Highlights the role of pharmacogenetics in understanding multifactorial diseases like psoriasis.
- Provides insights into personalized medicine approaches for psoriasis risk assessment and management.
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