S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India.
Dis Markers. 2012;33(3):127-35. doi: 10.1155/2012/467085.
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.
帕金森病（PD）是一种常见的神经退行性运动障碍。在候选基因中，DJ-1 约占不同人群中病例的 1%。我们旨在寻找该基因在印度人中与 PD 的关系。通过对印度东部的 308 名 PD 患者和 248 名种族匹配的对照进行 DJ-1 筛查，共发现了 21 种核苷酸变异，包括两种非同义变化。p.Arg98Gln 在 6 名无关患者和 2 名对照中被发现，而 p.Val35Ile，一种新的变化，仅在 2 名无关患者中发现。观察到 SNP（rs7517357）与 PD 风险增加中度相关（p<0.05）。已知的 18 bp del/ins/dup 多态性的缺失等位基因（g.168_185del）在年龄较大的患者（>40 岁）中比对照组（>45 岁）更为常见（p<0.05）。两名患者也为 PINK1 突变的杂合子，其疾病表型更为严重，与报告的 PINK1 和 DJ-1 基因产物之间的相互作用一致[19]。我们的结果表明，印度东部高达 3.9%（12/308）的 PD 患者携带 DJ-1 变异体，应进一步探索其与 PD 的任何因果关系。
