Screening of two indel polymorphisms in the 5'UTR of the DJ-1 gene in South African Parkinson's disease patients

Abstract

Mutations in the DJ-1 gene have been implicated in early-onset Parkinson's disease (PD). Two indel variants (g.168_185del and g.-6_+10del) in the 5'UTR of DJ-1 have been described. Genotyping of both variants in 402 South African PD patients of various ethnicities and 528 ethnically matched controls revealed that they are rare in the South African population. Further studies on these variants in other populations are warranted given their possible role in transcriptional regulation and DJ-1's critical role in alleviating oxidative stress.