دورية أكاديمية
أعرض في EDS

Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.

التفاصيل البيبلوغرافية
العنوان: Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.
المؤلفون: Chen Y; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Cao B; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Ou R; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Wei Q; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Chen X; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Zhao B; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Wu Y; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Song W; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Shang HF; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China. hfshang2002@126.com.
المصدر: Journal of molecular neuroscience : MN [J Mol Neurosci] 2018 Apr; Vol. 64 (4), pp. 574-580. Date of Electronic Publication: 2018 Mar 21.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE
أسماء مطبوعة: Publication: Totowa, NJ : Humana Press
Original Publication: Boston : Birkhäuser [i.e. Cambridge, MA : Birkhäuser Boston, c1989-
مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Amyotrophic Lateral Sclerosis/*genetics , Histamine N-Methyltransferase/*genetics , Multiple System Atrophy/*genetics , Parkinson Disease/*genetics , Protein Serine-Threonine Kinases/*genetics , RNA-Binding Proteins/*genetics, Aged ; China ; Female ; Humans ; Male ; Middle Aged
مستخلص: Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson's disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations. A total of 2417 patients, including 1237 PD, 850 SALS, and 330 MSA patients, along with 836 healthy controls (HCs) were examined in this study. All patients were genotyped for SNPs using the Sequenom iPLEX assay. No significant differences were found in the genotype and allele frequency distributions between the three neurodegenerative diseases and three candidate variants investigated. In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower. In addition, female patients carrying the rs34016896 minor allele had an increased risk of developing MSA (OR 1.25, 95% CI [1.09-1.43]), and ALS patients carrying the Ile105 polymorphism on the Thr105Ile allele in the HNMT gene exhibited a trend toward a delay in symptom onset of 3.010 ± 1.629 years. Our results indicate that the presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies and that the Thr105Ile allele in the HNMT gene could potentially be an important therapeutic target for the treatment of ALS.
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معلومات مُعتمدة: 81571247 the funding of the National Science Fund of China; 81701249 the funding of the National Science Fund of China; 2017YFC0909101 the National Key Research and Development Program of China
فهرسة مساهمة: Keywords: Amyotrophic lateral sclerosis; Association analysis; Multiple system atrophy; Parkinson’s disease; Variants
المشرفين على المادة: 0 (NMD3 protein, human)
0 (RNA-Binding Proteins)
EC 2.1.1.8 (Histamine N-Methyltransferase)
EC 2.7.11.1 (Protein Serine-Threonine Kinases)
EC 2.7.11.1 (STK39 protein, human)
تواريخ الأحداث: Date Created: 20180323 Date Completed: 20180918 Latest Revision: 20211204
رمز التحديث: 20240628
DOI: 10.1007/s12031-018-1048-8
PMID: 29564728
قاعدة البيانات: MEDLINE
الوصف
تدمد:1559-1166
DOI:10.1007/s12031-018-1048-8