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 rs243866 and rs2285053 polymorphisms with susceptibility to AD, to assess the interaction of variants with 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 rs243866 and rs2285053 polymorphisms. The association with AD risk and clinical parameters was evaluated by logistic and linear regression analyses. No statistically significant differences in either rs243866 and rs2285053 allele or genotype frequencies between AD patients and the control group have been observed ( > 0.05). However, the correlation with clinical findings revealed a higher age at disease onset in rs243866 GG carriers in the dominant model as compared to other genotype carriers ( = 0.024). Our results suggest that rs243866 promoter polymorphism may have an impact on the age at AD onset in the patients.