[PHENOTYPIC POLYMORPHISM OF N-ACETYLTRANSFERASE 2 IN PATIENTS WITH DIABETES MELLITUS]

Area of Science:

• Pharmacogenetics
• Human genetics
• Metabolic disorders

Background:

• Polymorphism in N-acetyltransferase 2 (NAT2) influences disease risk and drug metabolism.
• Understanding NAT2 activity is crucial for personalized medicine and pharmacogenetics.

Purpose of the Study:

• To investigate the phenotypic polymorphism of NAT2 in healthy subjects and type 2 diabetes mellitus patients.
• To analyze the distribution of genetic determinants related to NAT2 acetylation status.
• To develop a predictive scale for NAT2 acetylation status using anthropometric indicators.

Main Methods:

• Phenotypic analysis of NAT2 activity in 141 healthy subjects and 115 type 2 diabetes patients.
• Genetic analysis correlating acetylation status with anthropometric and phenotypic traits.
• Development of an acetylation phenotype prediction scale based on anthropometric indicators.

Main Results:

• A bimodal distribution of NAT2 phenotypic polymorphism was observed in both diabetic patients and healthy individuals.
• No significant gender differences in NAT2 activity were found in either group.
• Specific anthropometric traits (eye color, dimples, ear lobe size, tongue rolling) and hair color were found to be associated with NAT2 acetylation status in diabetic patients.

Conclusions:

• NAT2 activity exhibits bimodal distribution, suggesting distinct acetylator phenotypes.
• Anthropometric indicators can potentially predict NAT2 acetylation status, offering a non-invasive assessment method.
• These findings may contribute to a better understanding of genotype-phenotype correlations in pharmacogenetics and disease risk.