Case-control study of the Parkin gene in early-onset Parkinson disease
Case-control study of the Parkin gene in early-onset Parkinson disease
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DOI：
10.1001/archneur.63.4.548
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发表时间：
2006-04-01
影响因子：
--
通讯作者：
Marder, K
中科院分区：
文献类型：
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作者：
Clark, LN;Afridi, S;Marder, K
背景：据估计，Parkin突变占家族性帕金森病（PD）的50%和散发性PD的18%。在家族性和散发性病例中，pat-kin中的单个杂合突变也可能增加对PD的易感性。据我们所知，以往的研究都局限于PD病例，这是第一次系统地筛查对照组中Parkin编码区和外显子缺失及重复的研究。目的：为了确定早发性PD病例（年龄G）中Parkin变异体的频率和谱，在101例病例中的4例（3.9%）和105例对照中的2例（2%）中鉴定出（P = .44）。排除同义替换Leu 261 Leu（杂合子），10（9.9% [95%置信区间，4.6%-17.5%]）进行mutation.Conclusions：突变的频率之间的情况下，没有选择基于PD家族史是类似的，以前曾报道在散发性PD。Leu 261 Leu在病例和对照中的相似频率表明它是一种正常变异，而不是疾病相关突变。我们证实杂合子帕金突变可能增加早发性PD的易感性。
Background: Mutations in Parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in pat-kin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the Parkin coding regions and exon deletions and duplications in controls.Objective: To determine the frequency and spectrum of Parkin variants in early-onset PD cases (aged G) was identified in 4 (3.9%) of 101 cases and 2 (2%) of 105 controls (P = .44). Excluding the synonymous substitution Leu261Leu (heterozygotes), 10 (9.9% [95% confidence interval, 4.6%-17.5%]) carried mutations.Conclusions: The frequency of mutations among cases that were not selected based on family history of PD is similar to what has previously been reported in sporadic PD. The similar frequency of Leu261Leu in cases and controls suggests it is a normal variant rather than a disease-associated mutation. We confirmed that heterozygous Parkin mutations may increase susceptibility for early-onset PD.