Analysis of Single Nucleotide Polymorphisms of STK32B, PPARGC1A and CTNNA3 Gene With Sporadic Parkinson's Disease Susceptibility in Chinese Han Population

被引:7
作者
Shi, Chang-he [1 ]
Cheng, Yuan [1 ,2 ]
Tang, Mi-bo [1 ,2 ]
Liu, Yu-tao [1 ]
Yang, Zhi-hua [1 ,2 ]
Li, Fang [1 ,2 ]
Fan, Yu [1 ,2 ]
Yang, Jing [1 ]
Xu, Yu-ming [1 ]
机构
[1] Zhengzhou Univ, Affiliated Hosp 1, Dept Neurol, Zhengzhou, Henan, Peoples R China
[2] Zhengzhou Univ, Affiliated Hosp 1, Inst Clin Med, Zhengzhou, Henan, Peoples R China
来源
FRONTIERS IN NEUROLOGY | 2018年 / 9卷
基金
国家重点研发计划; 中国国家自然科学基金;
关键词
single nucleotide polymorphisms (SNPs); Parkinson's disease; STK328; PPARGC1; CTNNA3; GENOME-WIDE ASSOCIATION; ESSENTIAL TREMOR; RISK; VARIANT; SLC1A2; LOCI; MITOCHONDRIA; RS3794087;
D O I
10.3389/fneur.2018.00387
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Recently, five novel single nucleotide polymorphisms (SNPs), rs10937625 in STK32B (serine/threonine kinase 32B), rs17590046 in PPARGC1A (peroxisome proliferator-activated receptor gamma coactivator 1-alpha), and rs12764057, rs10822974, and rs7903491 in CTNNA3 (catenin alpha 3), were found to be associated with increased risk of essential tremor (ET) in a genome-wide association study (GWAS)in individuals of Caucasian ancestry. Considering the overlap between ET and Parkinson's disease (PD) in pathological features and clinical manifestations, a case-control study comprising 546 PD patients and 550 control subjects was carried out to examine whether the same variants were also associated with PD in Chinese Han population. However, the above variants did not show an association with PD. Our results suggested that these variants do not play a major role in PD in the Chinese population, Actually, the clinical overlap between PD and ET is under debate. In our Chinese Han cohort, we did not verify potential genetic pleiotropy between two diseases, which may indicated that etiology and pathobiology of PD and ET are distinct. Thus, a more comprehensive study such as a multi-center study may be helpful to evaluate the relationship between the five new susceptible loci and PD in Chinese Han population in the future.
引用
收藏
页数:5
相关论文
共 37 条
  • [1] The role of single-nucleotide variants of the energy metabolism-linked genes SIRT3, PPARGC1A and APOE in amyotrophic lateral sclerosis risk
    Albani, Diego
    Pupillo, Elisabetta
    Bianchi, Elisa
    Chierchia, Armando
    Martines, Rosalba
    Forloni, Gianluigi
    Beghi, Ettore
    [J]. GENES & GENETIC SYSTEMS, 2016, 91 (06) : 301 - 309
  • [2] The overlap between Essential tremor and Parkinson disease
    Algarni, Musleh
    Fasano, Alfonso
    [J]. PARKINSONISM & RELATED DISORDERS, 2018, 46 : S101 - S104
  • [3] LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China
    An, X. -K.
    Peng, R.
    Li, T.
    Burgunder, J. -M.
    Wu, Y.
    Chen, W. -J.
    Zhang, J. -H.
    Wang, Y. -C.
    Xu, Y. -M.
    Gou, Y. -R.
    Yuan, G. -G.
    Zhang, Z. -J.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2008, 15 (03) : 301 - 305
  • [4] Association of GWAS Loci With PD in China
    Chang, Xue-Li
    Mao, Xue-Ye
    Li, Hui-Hua
    Zhang, Jin-Hong
    Li, Nan-Nan
    Burgunder, Jean-Marc
    Peng, Rong
    Tan, Eng-King
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (03) : 334 - 339
  • [5] Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation
    Chen, Jieming
    Zheng, Houfeng
    Bei, Jin-Xin
    Sun, Liangdan
    Jia, Wei-hua
    Li, Tao
    Zhang, Furen
    Seielstad, Mark
    Zeng, Yi-Xin
    Zhang, Xuejun
    Liu, Jianjun
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) : 775 - 785
  • [6] Analysis of variant rs3794087 in SLC1A2 and Parkinson's disease in a Chinese Han population: A case-control study and meta-analysis
    Cheng, Yuan
    Mao, Cheng-yuan
    Liu, Yu-tao
    Li, Fang
    Yang, Jing
    Liu, Han
    Zhang, Chan
    Wang, Yan-lin
    Wu, Jun
    Shi, Chang-he
    Xu, Yu-ming
    [J]. NEUROSCIENCE LETTERS, 2018, 666 : 165 - 168
  • [7] Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease
    Clark, Joanne
    Reddy, Sonika
    Zheng, Kangni
    Betensky, Rebecca A.
    Simon, David K.
    [J]. BMC MEDICAL GENETICS, 2011, 12
  • [8] Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
    Gulsuner, Hilal Unal
    Gulsuner, Suleyman
    Mercan, Fatma Nazli
    Onat, Onur Emre
    Walsh, Tom
    Shahin, Hashem
    Lee, Ming K.
    Dogu, Okan
    Kansu, Tulay
    Topaloglu, Haluk
    Elibol, Bulent
    Akbostanci, Cenk
    King, Mary-Claire
    Ozcelik, Tayfun
    Tekinay, Ayse B.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (51) : 18285 - 18290
  • [9] The Pathophysiology of Essential Tremor and Parkinson's Tremor
    Helmich, Rick C.
    Toni, Ivan
    Deuschl, Guenther
    Bloem, Bastiaan R.
    [J]. CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2013, 13 (09)
  • [10] ACCURACY OF CLINICAL-DIAGNOSIS OF IDIOPATHIC PARKINSONS-DISEASE - A CLINICOPATHOLOGICAL STUDY OF 100 CASES
    HUGHES, AJ
    DANIEL, SE
    KILFORD, L
    LEES, AJ
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (03) : 181 - 184