No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients
No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients
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DOI：
10.1016/j.neulet.2010.05.071
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发表时间：
2010-08-02
影响因子：
2.5
通讯作者：
Hattori, Nobutaka
中科院分区：
文献类型：
--
作者：
Li, Lin;Funayama, Manabu;Hattori, Nobutaka
Grb10 相互作用 GYF 蛋白 2 (GIGYF2) 是 PARK11 基因座的候选基因。迄今为止，在欧洲血统的家族性帕金森病 (PD) 患者中已发现七种不同的 GIGYF2 错义突变。为了阐明 GIGYF2 在 PD 中的致病作用，我们通过直接测序和/或高分辨率熔解分析，分析了 389 名日本 PD 患者（包括 93 名晚发家族性 PD 患者、276 名散发性 PD 患者和 20 名 PD 相关基因单个杂合突变）和 336 名日本正常对照的 GIGYF2 突变频率。未检测到报告的 GIGYF2 突变或双基因突变。鉴定出两个新的非同义变异（p.Q1211delQ 和 p.H1023Q），但是，我们无法确定它们在 PD 中的作用。总之，我们没有发现 GIGYF2 突变与 PD 相关作用的证据。我们的数据表明，与其他人群类似，GIGYF2 不太可能在日本患者的 PD 中发挥主要作用。 (C) 2010 Elsevier Ireland Ltd. 保留所有权利。
Grb10-Interacting GYF Protein-2 (GIGYF2) is a candidate gene for PARK11 locus. To date, seven different GIGYF2 missense mutations have been identified in patients with familial Parkinson disease (PD) of European descent. To clarify the pathogenic role of GIGYF2 in PD, we analyzed the frequency of GIGYF2 mutations in 389 Japanese patients with PD (including 93 patients with late-onset familial PD, 276 with sporadic PD, and 20 with a single heterozygous mutation in the PD-associated genes), and 336 Japanese normal controls, by direct sequencing and/or high-resolution melting analysis. None of the reported GIGYF2 mutations or digenic mutations were detected. Two novel non-synonymous variants were identified (p.Q1211delQand p.H1023Q), however, we could not determine their roles in PD. In summary, we found no evidence for PD-associated roles of GIGYF2 mutations. Our data suggest that GIGYF2 is unlikely to play a major role in PD in Japanese patients, similar to other populations. (C) 2010 Elsevier Ireland Ltd. All rights reserved.