دورية أكاديمية
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Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy.

التفاصيل البيبلوغرافية
العنوان: Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy.
المؤلفون: Hu T; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China; Department of Neurology, Chengdu Aerospace Hospital, Chengdu, Sichuan, China., Chen Y; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Ou R; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Wei Q; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Cao B; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Zhao B; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Wu Y; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Song W; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Chen X; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Shang HF; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: hfshang2002@126.com.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2017 Jun 15; Vol. 377, pp. 65-71. Date of Electronic Publication: 2017 Mar 21.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, <19 ->
مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*genetics , Membrane Proteins/*genetics , Multiple System Atrophy/*genetics , Nerve Tissue Proteins/*genetics , Parkinson Disease/*genetics , Polymorphism, Single Nucleotide/*genetics , Vesicular Monoamine Transport Proteins/*genetics, Adult ; Aged ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Male ; Middle Aged
مستخلص: Background: The vesicular monoamine transporter type 2 (VMAT2) and transmembrane Protein 106B (TMEM106B) were reported to be associated with neurodegenerative diseases. Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD). Considering the overlap between clinical manifestation and pathologic characteristics in neurodegenerative diseases, we conducted a large-sample study to investigate the associations between these four polymorphisms and the risk for PD, sporadic amyotrophic lateral sclerosis (SALS), and multiple system atrophy (MSA) in a Chinese patient population.
Methods: A total of 1121 PD, 863 SALS, and 356 MSA patients, as well as 829 healthy controls (HCs), were included in the study. These four polymorphisms were genotyped using Sequenom iPLEX Assay technology.
Results: Significant differences were found in the genotype distribution of VMAT2 rs363371 between SALS patients and HCs (p=0.001). In an additive model, "GG" of rs363371 significantly decreased the risk for SALS (p<0.001, OR: 0.49, 95% CI [0.36-0.67]). The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001). The minor alleles "T" of rs1990622 and "C" of rs3173615 increased the risk for PD patients with initial symptom of rigidity/bradykinesia (OR: 1.21[1.10-1.34] and OR: 1.19[1.07-1.31], respectively). No differences were found in the genotype distribution and allele frequency of the four polymorphisms between MSA patients and HCs.
Conclusion: In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: Amyotrophic lateral sclerosis; Multiple system atrophy; Parkinson's disease; Polymorphisms; TMEM106B; VMAT2
المشرفين على المادة: 0 (Membrane Proteins)
0 (Nerve Tissue Proteins)
0 (SLC18A2 protein, human)
0 (TMEM106B protein, human)
0 (Vesicular Monoamine Transport Proteins)
تواريخ الأحداث: Date Created: 20170508 Date Completed: 20180223 Latest Revision: 20180223
رمز التحديث: 20221213
DOI: 10.1016/j.jns.2017.03.028
PMID: 28477711
قاعدة البيانات: MEDLINE
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