MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer's Disease Risk in Slovak Caucasian Population

Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterised by progressive loss of memory. In the AD brain, matrix metalloproteinases (MMPs) are involved in the disruption of the blood-brain barrier resulting in a neuroinflammatory response. The objective of our investigation was to assess the association of MMP2 rs243866 and rs2285053 polymorphisms with susceptibility to AD, to assess the interaction of MMP2 variants with APOE epsilon 4 risk allele, and to evaluate their influence on the age at disease onset and MoCA score. A total of 215 late-onset AD patients and 373 control subjects from Slovakia were genotyped for MMP2 rs243866 and rs2285053 polymorphisms. The MMP2 association with AD risk and clinical parameters was evaluated by logistic and linear regression analyses. No statistically significant differences in either MMP2 rs243866 and rs2285053 allele or genotype frequencies between AD patients and the control group have been observed (p > 0.05). However, the correlation with clinical findings revealed a higher age at disease onset in MMP2 rs243866 GG carriers in the dominant model as compared to other MMP2 genotype carriers (p = 0.024). Our results suggest that MMP2 rs243866 promoter polymorphism may have an impact on the age at AD onset in the patients.

Automated summary

Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive memory loss. Matrix metalloproteinases (MMPs) play a role in the disruption of the blood-brain barrier in AD patients, leading to neuroinflammation. This study investigated the association between MMP2 gene polymorphisms and AD susceptibility, as well as their interaction with the APOE epsilon 4 risk allele, age at disease onset, and MoCA score. The results showed no significant differences in MMP2 polymorphisms between AD patients and controls, but revealed a correlation between MMP2 rs243866 GG genotype and a later age at disease onset. This suggests that the MMP2 rs243866 promoter polymorphism may influence the age at onset of AD.