Computational discovery and assessment of non-synonymous single nucleotide polymorphisms from target gene pool associated with Parkinson's disease

Abstract

Parkinson's disease is a well known neurological disorder across the globe. Even after decades of research, precise knowledge on molecular basis of the disease pathology is still imprecise. However, advancement in experimental and computational techniques have generated high frequency of genomics data which offers a scope to discover effective non synonymous SNPs within PD associated genes. Here, authors have attempted to discovered non-synonymous, deleterious SNPs for the target gene pool with a plausible threat towards PD pathophysiology using dbSNP, SIFT, PredictSNP1 and PredictSNP2 tool. PD related genes list was prepared on the basis of literature evidence and reports from different public repositories such as Gene Cards, GWAS CATALOG, GenAtlas and MalaCards. The present study was identified six novel SNPs such as rs372675589, rs150966634, rs184532476, rs373099722, rs201188374 and rs201555827 for five PD targets (PSMC4, NDUFV1, GSK3B, GPR37 and CUL1). Possibly, all of these six SNPs such as P199H (PSMC4), R386C (NDUFV1), V70I (GSK3B), V399G (GPR37), S424F (GPR37), and L140P (CUL1) in their respective PD targets have remarkable association in the disease pathways. The present observation would provide insights into the complicated structure of PD pathophysiology.