Computational Investigation of Regulatory Region SNPs of Autophagy Gene BECN1

The autophagy process plays a cytoprotective role and ensures the healthy survival of a cell. The role of autophagy has been implicated in various diseases, making it an essential candidate for therapeutic interventions. Beclin 1, a candidate autophagy protein, plays a critical role during autophagy initiation and maturation by interacting with various other autophagy proteins. Beclin1 has been reported to be involved in various human diseases. This study uses a computational approach to study the effect of non-coding region single nucleotide polymorphisms (SNPs) of gene encoding beclin1. RegulomeDB, SNP2TFBS, and PROMO ALLGEN were used to predict the effect of promoter region variants on transcription factor binding sites. SNPs located within 3'UTR were analyzed by miRdSNP, PolymiRTS Database 3.0, miRNASNP-V3, MicroSNIPER, and miRmap. Nine promoter region variants that alter the transcription factor binding sites and 4 variants in 3'UTR were identified that either create a new target site for miRNA or disrupt an existing one. The functional analysis of these identified SNPs could be done experimentally to unravel their relation with a particular disease and the genetic predisposition of human subjects for a disease.