The rs1572931 polymorphism of the RAB7L1 gene promoter is associated with reduced risk of Parkinson's disease

Abstract

INTRODUCTION: Parkinson's disease (PD) is one of the most common neurologic disorders affecting about 2% of people over 65 years old and both genetic and environmental factors are involved in its aetiology. The genetic part includes several genes and polymorphisms that are the direct cause of disease or its susceptibility factor. The rs1572931 polymorphism of RAB7L1 gene, located in the promoter region, has been recently studied and shown to be strongly associated with reducing risk of PD. In this study, we aim to investigate its association with PD in Iranian population. METHODS: We examined the association of rs1572931 polymorphism with PD in 490 unrelated Patients and 490 normal controls by PCR-RFLP method in Iranian subjects. RESULTS: A significant difference in genotype and allele frequencies was observed between patients and controls (p value = 0.003, OR (95% CI) = 0.71(0.56-0.90)). The TT genotype and the T allele were both significantly less frequent in PD cases. CONCLUSION: Our results confirmed the protective effect of the rs1572931 SNP on PD and replicated the results of previous studies, in Iranian subjects. We suggest further studies in other populations.