Molecular genetics of Parkinson's disease: Contributions and global trends

被引：83

作者：

Funayama, Manabu ^{[1
,2
]}

Nishioka, Kenya ^{[2
]}

Li, Yuanzhe ^{[2
]}

Hattori, Nobutaka ^{[1
,2
,3
]}

机构：

[1] Juntendo Univ, Res Inst Dis Old Age, Grad Sch Med, 2 1 1 Hongo,Bunkyo Ku, Tokyo 1138421, Japan

[2] Juntendo Univ, Dept Neurol, Sch Med, 2 1 1 Hongo,Bunkyo Ku, Tokyo 1138421, Japan

[3] RIKEN Ctr Brain Sci, Neurodegenerat Disorders Collaborat Lab, 2 1 Hirosawa, Wako, Saitama 3510106, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2023年 / 68卷 / 03期

关键词：

GLUCOCEREBROSIDASE MUTATIONS; ALPHA-SYNUCLEIN; ONSET; LOCUS; SUSCEPTIBILITY; IDENTIFICATION; ASSOCIATION; VARIANTS; FAMILY; DOMAIN;

D O I：

10.1038/s10038-022-01058-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Parkinson's disease (PD) is a neurodegenerative disorder primarily characterized by motor dysfunction. Aging is the greatest risk factor for developing PD. Recent molecular genetic studies have revealed that genetic factors, in addition to aging and environmental factors, play an important role in the development of the disorder. Studies of familial PD have identified approximately 20 different causative genes. PRKN is the most frequently detected causative gene in Japan. The PRKN gene is located at a common fragile site, and both copy number variants as well as single nucleotide variants are frequently detected. The location and variety of variant types makes an accurate genetic diagnosis difficult with conventional genetic testing. In sporadic PD, genome-wide association studies have revealed more than 200 genes that are potential drivers for the development of PD. Many of these studies have been conducted in Caucasian populations alone, which has limited the identification of all genetic risk factors for sporadic PD, particularly as genetic backgrounds vary widely by race. The Global Parkinson's Genetics Program is a global undertaking meant to address the issue of regional differences in genetic studies of PD.

引用

页码：125 / 130

页数：6

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