Publikationsdatum:
2012-01-01
Beschreibung:
Parkinson’s disease (PD) is a common neurodegenerative movement disorder. Among the candidate genes,DJ-1accounts for about 1% of the cases in different populations. We aim to find the contribution of the gene towards PD among Indians. By screeningDJ-1in 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 forPINK1mutation, had more severe disease phenotypes, consistent with the reported interaction betweenPINK1andDJ-1gene products [19]. Our results demonstrate that up to 3.9% (12/308) of PD patients of eastern India harborDJ-1variants that should be explored further for any causal relationship with PD.
Print ISSN:
0278-0240
Digitale ISSN:
1875-8630
Thema:
Biologie
,
Chemie und Pharmazie
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