Document Type : Original Article
Authors
1
Neurology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
2
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
3
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
4
Community Medicine Department, National Research Center, Cairo, Egypt
5
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abstract
Background Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by a wide spectrum of motor and non-motor symptoms. Although the precise aetiology remains incompletely understood, a cardinal feature of the disease is the dopamine deficiency in the striatum, which is caused by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta. The severity and progression of PD are commonly assessed using the Unified Parkinson's Disease Rating Scale (UPDRS).
Objectives This study aims to investigate the association of PAI-1 HindIII polymorphism (C>G), EVI5 rs11808092, and GSTT1 null genotypes with PD incidence for the first time in Egyptian cases.
Materials and methods DNA extraction of white blood cells of patients and normal controls, followed by 3 duplex PCR processes to detect the GSTT1 gene null and EVI5 rs11808092 SNPs. On the other hand, the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique was used to examine the HindIIIPAI-1 C>G locus.
Results The 50 PD patients (29 females and 21 males) had a mean age of 70.3±3.4 years, and the 100 normal controls (52 females and 48 males) had a mean age of 71.1±3.7 years. On comparison of control and PD groups, GSTT1 null polymorphism (P = 0.003), the HindIII C>G PAI-1 GC genotype (P = 0.005), and the C allele (P = 0.046) were significantly more frequent in the PD group. On the other hand, the rs11808092 polymorphism showed no significant correlation with PD susceptibility (p= 0.175).
Conclusion The findings of this study indicated a significant association between the GSTT1 null polymorphism, the HindIII C>G PAI-1 GC genotype, and the C allele, which correlates with an increased incidence of Parkinson's disease (PD) in the Egyptian PD cohort. In contrast, no significant association was found between the EVI5 rs11808092 SNP and susceptibility to Parkinson's disease (PD). This study is the first to identify genetic factors that influence both the diagnosis and progression of Parkinson's disease in the Egyptian population.
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