دورية أكاديمية
أعرض في EDS

SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population.

التفاصيل البيبلوغرافية
العنوان: SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population.
المؤلفون: Xu Y; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Cao B; Department of Neurology, West China Hospital, Sichuan University, 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., Yang J; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Zhao B; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Song W; 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@163.com.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2016 Jun 15; Vol. 365, pp. 96-100. Date of Electronic Publication: 2016 Apr 08.
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 , Essential Tremor/*genetics , Genetic Predisposition to Disease/*genetics , Glutamate Plasma Membrane Transport Proteins/*genetics , Multiple System Atrophy/*genetics , Parkinson Disease/*genetics , Polymorphism, Single Nucleotide/*genetics, Adult ; Aged ; China ; Cohort Studies ; Excitatory Amino Acid Transporter 2 ; Female ; Gene Frequency ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Severity of Illness Index
مستخلص: Background: The association between the polymorphism rs3794087 in the solute carrier family 1, member 2 (SLC1A2) and the risk of essential tremor (ET) among different studies is controversial. Considering the overlap of the clinical manifestations and pathological characteristics of ET, Parkinson's disease (PD), multiple system atrophy (MSA), as well as amyotrophic lateral sclerosis (ALS), we explored the possible genetic association of rs3794087 with ET, PD, MSA and ALS in a Chinese cohort.
Methods: A total of 112 ET, 621 PD, 356 MSA, 513 sporadic ALS (SALS) patients and 437 healthy controls (HCs) were genotyped for rs3794087 using the Sequenom iPLEX Assay technology.
Results: Significant association was found between SLC1A2 rs3794087 and PD in the additive model (p=0.006), which was more obvious in early onset PD. The minor allele of rs3794087 decreased the risk for early onset PD (p=0.011, OR: 0.73, 95% CI: 0.56-0.94). However, no significant differences in the genotype distributions and allele frequency were observed in the allelic, additive, dominant or recessive genetic models of SLC1A2 rs3794087 between ET patients and HCs, between SALS patients and HCs, and between MSA and HCs.
Conclusions: Our results suggested SLC1A2 rs3794087 may decrease the risk for PD in a Chinese cohort, but do not support a role in the susceptibility to SALS or MSA.
(Copyright © 2016 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: Amyotrophic lateral sclerosis; Essential tremor; Multiple system atrophy; Parkinson's disease; SLC1A2; rs3794087
المشرفين على المادة: 0 (Excitatory Amino Acid Transporter 2)
0 (Glutamate Plasma Membrane Transport Proteins)
0 (SLC1A2 protein, human)
تواريخ الأحداث: Date Created: 20160522 Date Completed: 20170420 Latest Revision: 20201209
رمز التحديث: 20240628
DOI: 10.1016/j.jns.2016.04.003
PMID: 27206883
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5883
DOI:10.1016/j.jns.2016.04.003