Affiliations: S. N. Pradhan Centre for Neurosciences, University of
Calcutta, Kolkata, India | Movement Disorders Clinic, Bangur Institute of
Neurosciences, Kolkata, India | Molecular and Human Genetics Division, CSIR-Indian
Institute of Chemical Biology, Kolkata, India
Note: [] Corresponding authors: Prof. Jharna Ray, S. N. Pradhan Centre
for Neurosciences, University of Calcutta 35, Ballygunge Circular Road,
Kolkata – 700 019, India. Tel.: +91 94330 31773; Fax: +91 33 2223 3260;
E-mail: jharnaray@gmail.com. Dr. Kunal Ray, Molecular and Human Genetics
Division, CSIR-Indian Institute of Chemical Biology, 4 Raja S. C. Mullick Road,
Kolkata – 700 032, India. Tel.: +91 33 2483 1984; Fax: +91 33 2473 5197;
E-mail: kunalray@gmail.com, kray@iicb.res.in.
Abstract: Parkinson's disease (PD) is a common neurodegenerative movement
disorder. Among the candidate genes, DJ-1 accounts for about 1% of the cases in
different populations. We aim to find the contribution of the gene towards PD
among Indians. By screening DJ-1 in 308 PD patients of eastern India and 248
ethnically matched controls, a total of 21 nucleotide variants –
including two nonsynonymous changes – were detected. p.Arg98Gln was
identified in 6 unrelated patients and 2 controls while p.Val35Ile, a novel
change, was found only in 2 unrelated patients. A SNP (rs7517357) was observed
to be moderately associated with increased risk of PD (p< 0.05). The
deletion allele (g.168_185del) of a known 18 bp del/ins/dup polymorphism was
found to be over represented (p< 0.05) among older patients (> 40 years)
compared to the controls (> 45 years). Two of the patients, also
heterozygotes for PINK1 mutation, had more severe disease phenotypes,
consistent with the reported interaction between PINK1 and DJ-1 gene products
[19]. Our results demonstrate that up to 3.9% (12/308) of PD patients of
eastern India harbor DJ-1 variants that should be explored further for any
causal relationship with PD.
