Objective: To investigate the association of BDNF(V66M), EIF4G1(R1205H) and VPS35(D620N) polymorphisms in South Indian PD patients.

Background: Parkinson’s disease (PD) is the most common form of movement disorder that embroiled multiple neuro-anatomical areas, due to various genetic and environmental factors. Advances in genetic analysis, Next Generation Sequencing, and Genome Wide Association Studies helps to identify the risk genes and understand the pathological pathway associated with PD development and progression. BDNF plays a role in differentiation, survival and maintenance of neurons in central and peripheral nervous system. In PD, the expression of BDNF (Brain Derived Neurotropic factor) NA is decreased there by making it a susceptible candidate gene. Studies have revealed that EIF4G1 (Eukaryotic Translation Initiation Factor 4 Gamma 1) variants may impair the ability of cells to rapidly and dynamically respond to stress, thus probably participating in PD development. Variations in VPS35 (Vacuolar Protein Sorting-Associated Protein 35) may disrupt the retrograde transport system and thereby contributing to dopaminergic neuronal cell death in PD.

Methods: A total of 168 PD patients and 151 age and ethnicity matched controls were included in the study. Blood samples were collected after taking the consent. DNA was isolated genetic analysis was done by PCR-RFLP method.

Results: The frequency of genotypic distribution of BDNF (V66M) polymorphism among the PD cases and controls were: C/C – 60.1 % and 67.5%, C/T – 28.6% and 26.4%, and T/T was 11.3 % and 5.9% respectively. The Allelic frequency distribution of C & T alleles in cases and controls were C- 74.4 % and 80.7%, T allele – 25.5% and 19.2% respectively. The Fishers exact test revealed that, there is a borderline significant difference between cases and controls (C/C versus C/T+T/T, OD 1.44, CI at 95% 0.95-2.18, P value 0.058. The frequencies of GG genotype of EIF4G1 (R1205H) and CC of VPS35 (D620N) polymorphisms among PD cases and controls are 100 %. There is no occurrence of mutant either in cases or in controls.

Conclusions: From the results we conclude that BDNF (V66M), EIF4G1 (R1205H) and VPS35 (D620N) polymorphisms are not associated with the PD risk in South Indian population.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/bdnfv66m-eif4g1r1205h-vps35d620n-gene-polymorphisms-in-south-indian-pd-patients/