Study of GCH1 and TH genes in Chinese patients with Parkinson's disease

Ya-Ping Yan; Bo Zhang; Ting Shen; Xiao-Li Si; Zhang-Yu Guo; Jun Tian; Cong-Ying Xu; Bao-Rong Zhang

doi:10.1016/j.neurobiolaging.2018.02.004

Study of GCH1 and TH genes in Chinese patients with Parkinson's disease

Neurobiol Aging. 2018 Aug:68:159.e3-159.e6. doi: 10.1016/j.neurobiolaging.2018.02.004. Epub 2018 Apr 5.

Authors

Ya-Ping Yan¹, Bo Zhang², Ting Shen¹, Xiao-Li Si¹, Zhang-Yu Guo¹, Jun Tian¹, Cong-Ying Xu³, Bao-Rong Zhang⁴

Affiliations

¹ Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.
² Department of Surgery, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.
³ Department of Neurology, The Second People's Hospital of Jiaxing, Jiaxing, Zhejiang Province, China.
⁴ Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China. Electronic address: [email protected].

PMID: 29724574
DOI: 10.1016/j.neurobiolaging.2018.02.004

Abstract

Whole-exome sequencing of Parkinson's disease (PD) patients has revealed that the frequency of GTP-cyclohydrolase I (GCH1) variants was signiﬁcantly higher in patients than in controls. GCH1 rs11158026 was also found to increase the risk of PD. To investigate genetic contribution of dopa-responsive dystonia-related genes to PD, GCH1, and tyrosine hydroxylase (TH) were tested in PD patients. A total of 859 study subjects comprising 421 patients with PD and 438 controls were recruited. For GCH1 gene, one known variant (c.239G > A, p.S80N) was detected in a patient who was diagnosed with PD clinically. In TH, 3 heterozygous variants, c.1495G > A (p. V499M, rs1800033), c.334 A > G (p.V112M, rs6356), and c.813 G > A (p. K271K, rs6357), were identified. After stratiﬁcation by age, the frequency of rs6356G allele was signiﬁcantly lower (p = 0.041) for the late-onset PD group than controls. Our results indicate that to analyze the relationship between dopa-responsive dystonia-related genes and PD, it is important to screen GCH1 and test rs6356 of TH in a larger sample.

Keywords: Chinese; Dopa-responsive dystonia (DRD); GCH1 gene; Parkinson's disease (PD); Relationship; TH gene.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
Dystonic Disorders / congenital
Dystonic Disorders / genetics
GTP Cyclohydrolase / genetics*
Gene Frequency / genetics
Genetic Association Studies*
Genetic Predisposition to Disease / genetics*
Genetic Variation / genetics*
Humans
Parkinson Disease / genetics*
Tyrosine 3-Monooxygenase / genetics*

Substances

Tyrosine 3-Monooxygenase
GTP Cyclohydrolase

Supplementary concepts

Segawa syndrome, autosomal recessive