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Effects of common functional MMP12 gene polymorphisms on PD in a Polish population
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Abstract
The present study investigated associations of two functional MMP12 polymorphisms with PD risk and cognitive impairment in PD. A total of 478 study subjects (241 PD and 237 age and sex matched controls) were included in the study. UPDRS score, Hoehn–Yahr staging and Schwab–England scale were used to assess motor abilities and activity during daily life. All patients were classified into groups with dementia (PDD, n=72) and without dementia (nPDD, n=159) based on the neuropsychological assessment. The two most common functional single nucleotide polymorphisms (SNPs) in MMP12 gene were determined using TaqMan real-time PCR assays. Frequencies of evaluated MMP12 rs2276109 alleles and genotypes were similar in PD and the controls, whereas rs652438G allele genotypes were significantly more frequent among healthy individuals (p=0.013, OR 0.47 (0.26–0.85). The rs2276109 and rs652438 allele and genotype frequencies were not associated with dementia in PD patients.
The current results suggest that MMP12 rs652438 but not MMP12 rs2276109 may affect the risk for PD, as the minor G allele genotypes might be a protective factor.
Abstract
The present study investigated associations of two functional MMP12 polymorphisms with PD risk and cognitive impairment in PD. A total of 478 study subjects (241 PD and 237 age and sex matched controls) were included in the study. UPDRS score, Hoehn–Yahr staging and Schwab–England scale were used to assess motor abilities and activity during daily life. All patients were classified into groups with dementia (PDD, n=72) and without dementia (nPDD, n=159) based on the neuropsychological assessment. The two most common functional single nucleotide polymorphisms (SNPs) in MMP12 gene were determined using TaqMan real-time PCR assays. Frequencies of evaluated MMP12 rs2276109 alleles and genotypes were similar in PD and the controls, whereas rs652438G allele genotypes were significantly more frequent among healthy individuals (p=0.013, OR 0.47 (0.26–0.85). The rs2276109 and rs652438 allele and genotype frequencies were not associated with dementia in PD patients.
The current results suggest that MMP12 rs652438 but not MMP12 rs2276109 may affect the risk for PD, as the minor G allele genotypes might be a protective factor.
Keywords
Parkinson' s disease, Genetic polymorphism, Matrix metalloproteinase 12
About this articleTitle
Effects of common functional MMP12 gene polymorphisms on PD in a Polish population
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
347-353
DOI
10.1016/j.pjnns.2017.06.001
Bibliographic record
Neurol Neurochir Pol 2017;51(5):347-353.
Keywords
Parkinson's disease
Genetic polymorphism
Matrix metalloproteinase 12
Authors
Monika Białecka
Mateusz Kurzawski
Tatyana Vlaykova
Tanya Tacheva
Violetta Dziedziejko
Anna Pierzchlińska
Marek Droździk