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3
A Multi-center Genome-wide Association Study of Cervical Dystonia.多中心全基因组关联研究:颈肌张力障碍
Mov Disord. 2021 Dec;36(12):2795-2801. doi: 10.1002/mds.28732. Epub 2021 Jul 28.
4
Na leak-current channel (NALCN) at the junction of motor and neuropsychiatric symptoms in Parkinson's disease.在帕金森病中,运动和神经精神症状交界处的漏电流通道(NALCN)。
J Neural Transm (Vienna). 2021 Jun;128(6):749-762. doi: 10.1007/s00702-021-02348-6. Epub 2021 May 7.
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Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.印度特发性肌张力障碍与 TOR1A 和 GCH1 多态性的关联。
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7
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Dystonia and Parkinson's disease: What is the relationship?肌张力障碍和帕金森病:它们之间有什么关系?
Neurobiol Dis. 2019 Dec;132:104462. doi: 10.1016/j.nbd.2019.05.001. Epub 2019 May 9.
9
Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.rs11655081 ARSG 基因与眼睑痉挛无关。
J Mol Neurosci. 2019 Mar;67(3):472-476. doi: 10.1007/s12031-018-1255-3. Epub 2019 Jan 18.
10
Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.肌张力障碍患者的危险因素基因:综述
Tremor Other Hyperkinet Mov (N Y). 2019 Jan 9;8:559. doi: 10.7916/D8H438GS. eCollection 2018.

中国东部地区肌张力障碍相关基因位点与帕金森病的关联

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China.

作者信息

Yang Wen-Yi, Jiang Si-Si, Pu Jia-Li, Jin Chong-Yao, Gao Ting, Zheng Ran, Tian Jun, Zhang Bao-Rong

机构信息

Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

出版信息

Front Neurol. 2022 Feb 22;12:711050. doi: 10.3389/fneur.2021.711050. eCollection 2021.

DOI:10.3389/fneur.2021.711050
PMID:35273550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8901603/
Abstract

BACKGROUND

Parkinson's disease (PD) and dystonia are closely related in terms of pathophysiology and clinical manifestations, but their common genetic characteristics remain unclear. Some genome-wide association studies (GWASs) and replication studies have revealed correlations between single nucleotide polymorphisms (SNPs) of the genes and dystonia. This study was conducted to assess the association between these genetic loci and PD in a population from Eastern China.

METHODS

We genotyped the SNPs (rs11655081 of ; rs6265 of ; rs61973742, rs1338051, rs9518384, and rs9518385 of ; rs67863238 of ; rs10930717 of ; and rs35875350 of ) in a cohort of 474 patients with PD and 439 healthy controls from East China. To determine the genotypes of these SNPs, we used an Agena MassARRAY Typer 4.0. Odds ratios (s) and 95% s were computed to evaluate the correlations between these SNPs and the risk of PD.

RESULTS

There were significant differences in the genotype distribution ( = 0.649, 95% = 0.478-0.880) and minor allele frequency (MAF) ( = 0.703, 95% = 0.533-0.929) of SNP rs61973742 () between patients with PD and healthy controls. A significant difference was detected in the genotype distribution of rs11655081 () ( = 1.486, 95% = 1.080-2.045).

CONCLUSION

Single nucleotide polymorphisms rs11655081 () and rs61973742 () may be associated with PD. The C allele of rs11655081 may increase the risk of PD, whereas the G allele of rs61973742 may be a protective factor.

摘要

背景

帕金森病(PD)和肌张力障碍在病理生理学和临床表现方面密切相关,但其共同的遗传特征仍不清楚。一些全基因组关联研究(GWAS)和重复研究已经揭示了某些基因的单核苷酸多态性(SNP)与肌张力障碍之间的相关性。本研究旨在评估中国东部人群中这些基因位点与PD之间的关联。

方法

我们对来自中国东部的474例PD患者和439名健康对照者进行了SNP(分别为的rs11655081;的rs6265;的rs61973742、rs1338051、rs9518384和rs9518385;的rs67863238;的rs10930717;以及的rs35875350)基因分型。为了确定这些SNP的基因型,我们使用了Agena MassARRAY Typer 4.0。计算优势比(OR)和95%可信区间(CI)以评估这些SNP与PD风险之间的相关性。

结果

PD患者与健康对照者之间,SNP rs61973742()的基因型分布(P = 0.649,95%CI = 0.478 - 0.880)和次要等位基因频率(MAF)(P = 0.703,95%CI = 0.533 - 0.929)存在显著差异。rs11655081()的基因型分布也检测到显著差异(P = 1.486,95%CI = 1.080 - 2.045)。

结论

单核苷酸多态性rs11655081()和rs61973742()可能与PD相关。rs11655081的C等位基因可能增加PD风险,而rs61973742的G等位基因可能是一个保护因素。