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

Abstract

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 ε4 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.

An Editorial on the Special Issue “Genetic Basis of Human Diseases”

“…Ocenasova et al’s study was devoted to the assessment of polymorphism of matrix metalloproteinase genes’ involvement in the predisposition to Alzheimer’s disease in the Slovak population [ 8 ]. The authors found an association with the age of onset of the disease of polymorphism rs243866 of the matrix metalloproteinase 2 gene, and the GG genotype at this locus marked an earlier manifestation of the pathology.…”