| Title |
Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinson’s disease: a genetic association study
|
|---|---|
| Published in |
BMC Neurology, February 2018
|
| DOI | 10.1186/s12883-018-1023-6 |
| Pubmed ID | |
| Authors |
Kari Anne Bjørnarå, Lasse Pihlstrøm, Espen Dietrichs, Mathias Toft |
| Abstract |
Parkinson's disease is a heterogeneous disorder where genetic factors may underlie clinical variability. Rapid eye movement sleep behavior disorder (RBD) is a parasomnia strongly linked to synucleinopathies, including Parkinson's disease. We hypothesized that SNCA variants conferring risk of Parkinson's disease would also predispose to an RBD phenotype. We assessed possible RBD (pRBD) status using the RBD screening questionnaire and investigated known susceptibility variants for Parkinson's disease located in the α-synuclein (SNCA) and tau (MAPT) gene loci in 325 Parkinson's disease patients. Associations between genetic risk variants and RBD were investigated by logistic regression, and an independent dataset of 382 patients from the Parkinson's Progression Marker Initiative (PPMI) study was used for replication. pRBD was associated with rs3756063 located in the 5' region of SNCA (two-sided p = 0.018, odds ratio 1.44). We replicated this finding in the PPMI dataset (one-sided p = 0.036, odds ratio 1.35) and meta-analyzed the results (two-sided p = 0.0032, odds ratio 1.40). The Parkinson's disease risk variant in the 3' region of SNCA and the MAPT variant showed no association with pRBD. Our findings provide proof of principle that a largely stable, dichotomous clinical feature of Parkinson's disease can be linked to a specific genetic susceptibility profile. Indirectly, it also supports the hypothesis of RBD as relevant marker for a distinct subtype of the disorder. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 44 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 7 | 16% |
| Student > Bachelor | 6 | 14% |
| Researcher | 4 | 9% |
| Student > Ph. D. Student | 4 | 9% |
| Student > Postgraduate | 2 | 5% |
| Other | 4 | 9% |
| Unknown | 17 | 39% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 25% |
| Neuroscience | 9 | 20% |
| Agricultural and Biological Sciences | 3 | 7% |
| Biochemistry, Genetics and Molecular Biology | 1 | 2% |
| Computer Science | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 18 | 41% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 April 2018.
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#18,616,159
of 23,881,329 outputs
Outputs from BMC Neurology
#1,870
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#244,997
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Outputs of similar age from BMC Neurology
#20
of 24 outputs
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