Absence of SNCA polymorphisms in Pakistani Parkinson's disease patients

Objective: to elucidate the genetic risk and role of alpha-synuclein gene in the pathogenesis of parkinson’s disease in pakistani population. methods: this case-control study was conducted at institute of biomedical and genetic engineering (ibge),islamabad from may 2013 to may 2016,and comprised patients with parkinson’s disease and their ethnically-matched healthy controls. allele-specific polymerase chain reaction was used for screening of three pathogenic single nucleotide polymorphisms in alpha-synuclein gene. moreover,20% samples were randomly selected for bidirectional sanger sequencing to confirm the results. spss 13 was used for data analysis. results: of the 374 participants,174(46.5%) were patients and 200(53.5%) were controls. the mean age for the onset of the disease was 55±13 years. no polymorphism was observed for rs104893875(g>a),rs104893877(g>a) and rs104893878(c>g) in alpha-synuclein gene in samples of patients and controls. conclusion: alpha-synuclein gene mutations might not be relevant to all the populations in causing parkinson’s disease. © 2017,pakistan medical association. all rights reserved.