RAB7L1 promoter polymorphism and risk of Parkinson’s disease; a case-control study

Abstract

Introduction: Recent genome-wide association studies have explored some new loci in association with Parkinson’s disease (PD). RAB7L1 is an important gene involved in one of the important neurological pathways, located in PARK16 locus. We performed a case-control study to examine the association between rs823144 SNP located in the promoter region of the RAB7L1 gene and PD risk in Iranian population.

Methods: A total of 960 samples including 480 PD patients and 480 healthy controls were collected for analysis of the RAB7L1 rs823144 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR – RFLP) method.

Results: We found significant differences in genotypic and allelic frequencies between patients and controls. Significant association was found between presence of minor allele (C) and decreased risk of PD development (p = 0.008, OR = 0.74 (0.605–0.924)). Also another significant association was observed between the CC genotype and PD (p = 0.004, OR = 0.441 (0.252–0.772)).

Conclusion: Our data support the association between rs823144 and decreased risk of PD.

Keywords:

• Parkinson’s disease
• polymorphism
• RAB7L1
• rs823144
• association

Acknowledgments

We would like to thank our patients and their families for their participation in our study.