Genotype-phenotype correlation of Parkinson's disease with PRKN variants
Genotype-phenotype correlation of Parkinson's disease with PRKN variants
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帕金森病与 PRKN 变异的基因型-表型相关性
DOI：
10.1016/j.neurobiolaging.2021.12.014
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发表时间：
2022
影响因子：
4.2
通讯作者：
Hattori Nobutaka
中科院分区：
文献类型：
--
作者：
Yoshino Hiroyo;Li Yuanzhe;Nishioka Kenya;Daida Kensuke;Hayashida Arisa;Ishiguro Yuta;Yamada Daisuke;Izawa Nana;Nishi Katsunori;Nishikawa Noriko;Oyama Genko;Hatano Taku;Nakamura Shinichiro;Yoritaka Asako;Motoi Yumiko;Funayama Manabu;Hattori Nobutaka
为了研究帕金森病（PD）中parkin RBRE 3泛素蛋白连接酶（PRKN）变异体的患病率和基因型-表型相关性，我们首先纳入了2,527例PD患者。通过定义的选择，我们招募了2，322例患者，包括1，204例家族性PD和1，118例散发性PD。我们确定了242例携带PRKN变异体的患者，这些变异体被认为是易感因素，包括137例家族性PD患者和105例散发性PD患者;在确定的26种变异体中，13种是新的。我们将我们的队列分为两组：杂合子（以下称为单等位基因）和纯合子或复合杂合子（以下称为双等位基因）。两个等位基因的患者发病年龄明显小于一个等位基因的患者。6个家系在同一家系的不同个体中具有一个和两个等位基因的复杂形式。双等位基因的存在反映了[123 I]间碘苄胍心肌显像更常见的正常值。对数秩检验显示，在15年的病程中，与两个等位基因相关的恶化。携带PRKN变异体的患者表现出依赖于突变等位基因数量的特异性症状。
To investigate the prevalence and genotype-phenotype correlations ofparkin RBRE3 ubiquitin protein ligase (PRKN) variants in Parkinson's disease (PD), we first included 2,527 patients with PD. Through the defined selection, we enrolled 2,322 patients, including 1,204 with familial and 1,118 with sporadic PD. We identified 242 patients harboringPRKNvariants, which were thought to be susceptibility factors, comprising 137 patients with familial and 105 with sporadic PD; among the 26 identified variants, 13 were novel. We divided our cohort into 2 groups: heterozygote (hereafter called one-allele) and homozygote or compound heterozygote (hereafter called two-allele). The patients with two-allele were significantly younger at onset than those with one-allele. Six families harbored the complex forms of one- and two-allele in different individuals of the same family. The presence of two-allele reflected more frequent normal values of [123I] metaiodobenzylguanidine myocardial scintigraphy. The log-rank test revealed an exacerbation associated with two-allele over 15 years of the disease course. The patients withPRKNvariants showed specific symptoms dependent on the number of mutated alleles.
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DOI：
10.1083/jcb.200910140
发表时间：
2010-04-19
期刊：
The Journal of cell biology
影响因子：
--
作者：
Matsuda N;Sato S;Shiba K;Okatsu K;Saisho K;Gautier CA;Sou YS;Saiki S;Kawajiri S;Sato F;Kimura M;Komatsu M;Hattori N;Tanaka K
通讯作者：
Tanaka K
Hajime Tanaka，：“青少年帕金森症与 11 号染色体上酪氨酸羟化酶基因座的连锁分析。”
DOI：
--
发表时间：
--
期刊：
影响因子：
--
作者：
通讯作者：
--
影响因子：
14.5
作者：
Clot, Fabienne;Grabli, David;Brice, Alexis
通讯作者：
Brice, Alexis
影响因子：
11.2
作者：
Farrer, M;Chan, P;Langston, JW
通讯作者：
Langston, JW
影响因子：
4.4
作者：
Yoshii, Fumihito;Ryo, Masafuchi;Hashimoto, Jun
通讯作者：
Hashimoto, Jun