Abstract:
BACKGROUND:Brain iron disequilibrium and dopaminergic dysfunction are key pathophysiological features of Restless Legs Syndrome (RLS). Rep1 polymorphism in the promotor region of SNCA is associated with risk of Parkinson's disease, however its association with RLS and iron status is unclear. OBJECTIVE:To investigate SNCA-Rep1 polymorphism in RLS and its phenotypes. METHODS:We recruited RLS patients as well as age and gender matched healthy controls. Demographic information and clinical features of RLS were recorded. Laboratory examinations were performed to exclude possible secondary causes. RESULTS:215 RLS patients and 369 healthy controls were included. We found that the Rep1 allele 0 homozygosity significantly decreased RLS risk (OR: 0.345; P < 0.0001, and remained significant after the Bonferroni correction). Phenotypic analysis demonstrated that longer Rep1 alleles were associated with increased susceptibility to iron deficiency (53.0% vs 36.1%, P = 0.017), however had no phenotypic significant effects on age, gender, onset age, duration, RLS family history, severity, laterality, extra body involvement and seasonal fluctuation. Multivariate logistic regression analyses confirmed long Rep1 allele was associated with higher risk of iron deficiency in RLS after adjusting for potential confounding factors. In detail, Rep1 allele 2 homozygosity was prone to a higher risk of peripheral iron deficiency in RLS (OR: 4.550, P = 0.006, remained significant after the Bonferroni correction). CONCLUSION:The SNCA-Rep1 variability modified RLS risk and influenced peripheral iron deficiency in this group of Chinese RLS patients. Rep1 allele 0 homozygosity decreased the risk of RLS, while homozygous allele 2 increased the risk of nonanemic iron deficiency in RLS.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Zhu XY,Wang HM,Wu TT,Liu T,Chen YJ,Li X,Chen TJ,Liu Y,Zhang XJ,Wang XX,Zhang Y,Ondo WG,Wu YCdoi
10.1016/j.parkreldis.2020.09.015subject
Has Abstractpub_date
2020-12-01 00:00:00pages
12-17eissn
1353-8020issn
1873-5126pii
S1353-8020(20)30729-Xjournal_volume
81pub_type
杂志文章abstract::Levodopa (LD) is the most effective drug for symptomatic control of Parkinsonism (PS). As prolonged LD therapy leads to response failure; is associated with adverse effects; may accelerate disease process, and its impact on life expectancy is controversial, delaying LD use has been recommended. We studied 934 PS cases...
journal_title:Parkinsonism & related disorders
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更新日期:1997-11-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
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journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
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abstract::Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of "myoclonic dystonia" has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology o...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00012-3
更新日期:2002-12-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.09.027
更新日期:2016-01-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.001
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.02.004
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.01.019
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.10.035
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.06.003
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.02.034
更新日期:2018-05-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00010-9
更新日期:2000-07-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.07.008
更新日期:2013-01-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.01.015
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.10.027
更新日期:2019-04-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.12.010
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.12.001
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.09.035
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.09.025
更新日期:2019-07-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 评论,信件
doi:10.1016/j.parkreldis.2020.01.011
更新日期:2020-02-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.02.030
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.11.008
更新日期:2012-06-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.06.008
更新日期:2007-07-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.10.018
更新日期:2019-11-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.10.022
更新日期:2014-02-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.02.007
更新日期:2015-05-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(09)70829-6
更新日期:2009-12-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70003-7
更新日期:2012-01-01 00:00:00