Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson’s Disease
Joint Authors
Chen, Yi-Chun
Chen, Chiung-Mei
Wu, Yih-Ru
Chao, Chih-Ying
Chiang, Han-Lin
Lee-Chen, Guey-Jen
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-25
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Parkinson’s disease (PD) is a neurodegenerative disorder related to nigrostriatal dopaminergic neuron degeneration and iron accumulation.
As a cellular oxygen sensor, prolyl hydroxylase domain containing protein 2 (PHD2, encoded by egl-9 family hypoxia inducible factor 1, EGLN1) modifies hypoxia-inducible factor alpha (HIF-α) protein for proteasomal destruction under normoxic condition.
In addition, 2-oxoglutarate- (OG-) dependent dioxygenase activity of PHD2 is involved in the oxygen and iron regulation of iron-responsive element binding protein 2 (IRP2) stability.
Previously increased expression of EGLN1 was found in the substantia nigra of the parkinsonian brain.
We investigated the possible role of c.380 G > C (p.C127S) of EGLN1 gene in Taiwanese patients with PD.
479 patients and 435 healthy controls were recruited.
Polymerase chain reaction and BsmAI restriction enzyme analysis were applied for analysis.
An association between CC genotype and reduced PD risk in the recessive model (CC vs.
GG + GC) was found.
Our study provides a link between EGLN1 c.380 G > C SNP and the development of PD.
American Psychological Association (APA)
Chiang, Han-Lin& Chen, Chiung-Mei& Chen, Yi-Chun& Chao, Chih-Ying& Wu, Yih-Ru& Lee-Chen, Guey-Jen. 2020. Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson’s Disease. Parkinson’s Disease،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1206538
Modern Language Association (MLA)
Chiang, Han-Lin…[et al.]. Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson’s Disease. Parkinson’s Disease No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1206538
American Medical Association (AMA)
Chiang, Han-Lin& Chen, Chiung-Mei& Chen, Yi-Chun& Chao, Chih-Ying& Wu, Yih-Ru& Lee-Chen, Guey-Jen. Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson’s Disease. Parkinson’s Disease. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1206538
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1206538