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PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.
- Source :
-
Neurobiology of aging [Neurobiol Aging] 2021 Jan; Vol. 97, pp. 147.e1-147.e9. Date of Electronic Publication: 2020 Jul 13. - Publication Year :
- 2021
-
Abstract
- This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.<br /> (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Age of Onset
Aged
Cohort Studies
Female
Heterozygote
Homozygote
Humans
Japan epidemiology
Male
Middle Aged
Parkinson Disease epidemiology
Gene Frequency genetics
Genetic Association Studies
Genetic Predisposition to Disease genetics
Genetic Variation
Group VI Phospholipases A2 genetics
Parkinson Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1558-1497
- Volume :
- 97
- Database :
- MEDLINE
- Journal :
- Neurobiology of aging
- Publication Type :
- Academic Journal
- Accession number :
- 32771225
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2020.07.004