POLYMERASE CHAIN REACTION METHOD IN THE STUDY OF GENETIC PREDICTORS OF DIABETES MELLITUS
Rubrics: 1. CHEMISTRY
Authors:
1.
KGMU
2.
Kazan State Medical University
3.
KNITU
4.
Kazan State Medical University
5.
Kazan State Medical University
6.
Kazan State Medical University
Type:
Article
Pages:
from 5
to 10
Status:
Published
Received:
24.12.2025
Accepted:
25.12.2025
Published:
25.12.2025
Language:
Russian
Keywords:
POLYMERASE CHAIN REACTION, GENE POLYMORPHISM ANALYSIS, DIABETES MELLITUS, MOLECULAR GENETIC STUDIES
Abstract (English):
Analysis using biochemical and biological reactions is widely used to diagnose various diseases. Diabetes mellitus remains one of the most significant medical and social problems of our time, with type 2 diabetes accounting for up to 90% of all cases. Given the polyetiological nature of the disease and the significant role of hereditary factors, the introduction of molecular genetic diagnostic methods is particularly relevant. Polymerase chain reaction is a highly sensitive and specific analytical technique that enables the detection of single nucleotide polymorphisms associated with the risk of developing diabetes mellitus at the preclinical stage. Due to its high accuracy and reproducibility, PCR is actively used for both research and clinical purposes, enabling early identification of genetic markers of predisposition to the disease. The article discusses the principles of polymerase chain reaction, its key stages, and modern modifications with an emphasis on their application for analysis in diabetology. It is shown that PCR allows both the diagnosis of monogenic forms of diabetes (MODY) and the analysis of polygenic predictors of type 2 diabetes, including the most studied polymorphism rs7903146 of the TCF7L2 gene. Particular attention is paid to the results of our own study conducted among residents of the Republic of Tatarstan, where, using allele-specific polymerase chain reaction, it was established that carriage of the TT rs7903146 genotype of the TCF7L2 gene is associated with a 3.5-fold increase in the risk of prediabetes, while the C allele has a protective effect. The results confirm the importance of using the polymerase chain reaction method for analysis in clinical diabetology for the purpose of early risk stratification, personalization of prevention and therapy, as well as for the development of multifactorial prediction models taking into account genetic and clinical data. The use of polymerase chain reaction not only allows the identification of key single nucleotide polymorphisms associated with disease predisposition, but also opens up opportunities for quantitative analysis of genetic markers, pharmacogenetic testing, and data integration into comprehensive algorithms for assessing the risk of developing and progressing diabetes mellitus.
Analysis using biochemical and biological reactions is widely used to diagnose various diseases. Diabetes mellitus remains one of the most significant medical and social problems of our time, with type 2 diabetes accounting for up to 90% of all cases. Given the polyetiological nature of the disease and the significant role of hereditary factors, the introduction of molecular genetic diagnostic methods is particularly relevant. Polymerase chain reaction is a highly sensitive and specific analytical technique that enables the detection of single nucleotide polymorphisms associated with the risk of developing diabetes mellitus at the preclinical stage. Due to its high accuracy and reproducibility, PCR is actively used for both research and clinical purposes, enabling early identification of genetic markers of predisposition to the disease. The article discusses the principles of polymerase chain reaction, its key stages, and modern modifications with an emphasis on their application for analysis in diabetology. It is shown that PCR allows both the diagnosis of monogenic forms of diabetes (MODY) and the analysis of polygenic predictors of type 2 diabetes, including the most studied polymorphism rs7903146 of the TCF7L2 gene. Particular attention is paid to the results of our own study conducted among residents of the Republic of Tatarstan, where, using allele-specific polymerase chain reaction, it was established that carriage of the TT rs7903146 genotype of the TCF7L2 gene is associated with a 3.5-fold increase in the risk of prediabetes, while the C allele has a protective effect. The results confirm the importance of using the polymerase chain reaction method for analysis in clinical diabetology for the purpose of early risk stratification, personalization of prevention and therapy, as well as for the development of multifactorial prediction models taking into account genetic and clinical data. The use of polymerase chain reaction not only allows the identification of key single nucleotide polymorphisms associated with disease predisposition, but also opens up opportunities for quantitative analysis of genetic markers, pharmacogenetic testing, and data integration into comprehensive algorithms for assessing the risk of developing and progressing diabetes mellitus.
Keywords:
POLYMERASE CHAIN REACTION, GENE POLYMORPHISM ANALYSIS, DIABETES MELLITUS, MOLECULAR GENETIC STUDIES
POLYMERASE CHAIN REACTION, GENE POLYMORPHISM ANALYSIS, DIABETES MELLITUS, MOLECULAR GENETIC STUDIES
