Type 2 diabetes mellitus (T2D) affects millions of people around the world, and its complications have serious health consequences. In addition to external factors, the causes of morbidity and increased risk were also sought in the variability of the human genome. A phenomenon that can answer these questions is the occurrence of single-nucleotide polymorphisms (SNP). They constitute a field for research into genetic determinants responsible for the increase in the risk of the discussed metabolic disease. This article presents the outline of two enzymes: metalloproteinases 2 and 9 (MMP-2, MMP-9), their biological activity and the effect caused by differences in individual alleles in the population, as well as the reports on the importance of these DNA sequence variations in the occurrence of diabetes mellitus type 2 and associated conditions. The results of the conducted research indicate a relationship between two MMP-2 polymorphisms (rs243865, rs243866) and two MMP-9 polymorphisms (rs3918242, rs17576) and the presence of T2D. This could offer a promising possibility to use them as predictive and diagnostic markers. However, due to the low number of reports, more research is needed to clearly confirm the link between these SNPs and diabetes.
Insulin resistance is a vital component in the diagnosis of prediabetes. Understanding the factors that influence its development and the course of metabolic disorders should include individual genetic predispositions, which may provide insight into etiology and potential prevention strategies. In this study, we examined associations between MMP-2 −1306 C/T (rs243865) and MMP-9 −1562 C/T (rs3918242) single-nucleotide polymorphisms, serum levels of MMP-2, MMP-9 and TIMP-1, and the occurrence of insulin resistance in patients in a Polish cohort. DNA isolated from 200 unrelated individuals was studied; participants were divided into insulin-resistant and control groups based on the homeostatic model assessment criteria (HOMA-IR). Genotyping of MMP-2 −1306 C/T (rs243865) and MMP-9 −1562 C/T (rs3918242) SNPs was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Serum MMP-2, MMP-9, and TIMP-1 concentrations were measured by enzyme-linked immunosorbent assays (ELISA). No significant associations were observed between the investigated MMP-2 and MMP-9 polymorphisms or TIMP-1 concentrations and the occurrence of insulin resistance. MMP-9 exhibited genotype-related variation, and MMP-2 concentrations differed between the IR and CTR groups. No significant correlations were found between MMP-2 or MMP-9 and TIMP-1. Our data do not support a direct association between the analyzed polymorphisms and insulin resistance in this sample. The observed higher MMP-2 levels in controls warrant further study. Larger, multi-ethnic studies are required to confirm these findings.