THE R1398H VARIANT OF THE LRRK2 GENE AND ITS ROLE IN PARKINSON’S DISEASE
Main Article Content
Abstract
Introduction: Parkinson’s disease is a progressive neurodegenerative disorder, its common symptoms are tremor, muscle stiffness, and slow movement. Besides environmental factors, genetics plays an important role in the development of Parkinson’s disease. Among related genes, LRRK2 has been studied widely because of its profound, diverse mutation spectrum and clinical effects. The LRRK2 R1398H variant has been identified in several populations and is thought to have a protective role. Objective: To describe the frequency of LRRK2 R1398H variant in Parkinson’s patients compared to healthy people, and to investigate the association between this variant and the risk of developing Parkinson’s disease. Methods: The study included 100 DNA samples from people with Parkinson’s disease and 100 from healthy individuals. The R1398H genotype was identified using ASO-PCR with allele-specific primers. Data was analyzed using descriptive statistics and the Chi-square test to compare allele and genotype frequencies between the two groups. Odds ratio (OR) and 95% confidence intervals (CI) were also calculated. Results: The heterozygous G/A genotype was found in 24% of healthy individuals and 10% of Parkinson’s patients. Statistical analysis showed that this genotype was linked to a lower risk of Parkinson’s disease (OR = 0,35; 95% CI: 0,16 – 0,78; p = 0,0076). Conclusion: The R1398H variant of the LRRK2 gene may be associated with a lower risk of developing Parkinson’s disease, suggesting a possible protective effect.
Article Details
Keywords
LRRK2, R1398H, Parkinson, ASO-PCR.
References
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