title: DJ-1 variants in Indian Parkinson's disease patients.
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.
authors.affiliation: S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India.
authors.forename: Tamal
authors.initials: T
authors.lastname: Sadhukhan
authors.forename: Arindam
authors.initials: A
authors.lastname: Biswas
authors.forename: Shyamal K
authors.initials: SK
authors.lastname: Das
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
authors.forename: Jharna
authors.initials: J
authors.lastname: Ray
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase; C105131:PARK7 protein, human