The RIT2 and STX1B polymorphisms are associated with Parkinson's disease

Wang, Jianyong; Gong, Mei-Ying; Ye, Yang-Lie; Ye, Jin-Min; Lin, Guoliang; Zhuang, Qing-Qing; Zhang, Xiong; Zhu, Jian-Hong

doi:10.1016/j.parkreldis.2014.12.006

Cited by 26 publications

(23 citation statements)

References 12 publications

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“…Syntaxin 1B (STX1B) is an important member of the Ca 2+ -dependent proteins that mediate vesicle fusion at the plasma membrane (Südhof, 2013). A genome-wide association study identified the STX1B rs4889603 variant as a sporadic PD susceptibility locus in the Chinese population (Wang et al, 2015). Ca 2+ binding to STX1B is necessary for the oligomerization of this protein and for the proper regulation of vesicle docking from the readily releasable pool at the synapse, although the underlying mechanism for this binding remains unknown (Table 1, Fig.…”

Section: Intracellular Ca2+ Stores and Their Deregulation In Pdmentioning

confidence: 99%

The role of Ca2+ signaling in Parkinson's disease

Zaichick

McGrath

Caraveo

2017

Disease Models &Amp; Mechanisms

148

101

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Across all kingdoms in the tree of life, calcium (Ca2+) is an essential element used by cells to respond and adapt to constantly changing environments. In multicellular organisms, it plays fundamental roles during fertilization, development and adulthood. The inability of cells to regulate Ca2+ can lead to pathological conditions that ultimately culminate in cell death. One such pathological condition is manifested in Parkinson's disease, the second most common neurological disorder in humans, which is characterized by the aggregation of the protein, α-synuclein. This Review discusses current evidence that implicates Ca2+ in the pathogenesis of Parkinson's disease. Understanding the mechanisms by which Ca2+ signaling contributes to the progression of this disease will be crucial for the development of effective therapies to combat this devastating neurological condition.

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Section: Intracellular Ca2+ Stores and Their Deregulation In Pdmentioning

confidence: 99%

The role of Ca2+ signaling in Parkinson's disease

Zaichick

McGrath

Caraveo

2017

Disease Models &Amp; Mechanisms

148

101

View full text Add to dashboard Cite

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“…As an example we have selected the human syntaxin gene STX1B (UPANr P61266), which has been associated with Parkinson’s Disease 50 . When evaluating simGIC / fsBMA scores for the BP IEA (+) ontology, its fly orthologue Syx1A (UPANr Q7KVY7) ranks on position 50 of the hit list sorted by z-score (and position 107 when sorted by raw score).…”

Section: Resultsmentioning

confidence: 99%

Exploring Approaches for Detecting Protein Functional Similarity within an Orthology-based Framework

Weichenberger

Palermo

Pramstaller

et al. 2017

Sci Rep

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Protein functional similarity based on gene ontology (GO) annotations serves as a powerful tool when comparing proteins on a functional level in applications such as protein-protein interaction prediction, gene prioritization, and disease gene discovery. Functional similarity (FS) is usually quantified by combining the GO hierarchy with an annotation corpus that links genes and gene products to GO terms. One large group of algorithms involves calculation of GO term semantic similarity (SS) between all the terms annotating the two proteins, followed by a second step, described as “mixing strategy”, which involves combining the SS values to yield the final FS value. Due to the variability of protein annotation caused e.g. by annotation bias, this value cannot be reliably compared on an absolute scale. We therefore introduce a similarity z-score that takes into account the FS background distribution of each protein. For a selection of popular SS measures and mixing strategies we demonstrate moderate accuracy improvement when using z-scores in a benchmark that aims to separate orthologous cases from random gene pairs and discuss in this context the impact of annotation corpus choice. The approach has been implemented in Frela, a fast high-throughput public web server for protein FS calculation and interpretation.

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“…However, a study conducted by Nie et al departed from HWE (P = 0.03), and their data were therefore excluded from further meta-analysis 11 . Finally, four studies published between 2013 and 2015 comprising 2017 PD cases and 2010 controls were included in the current meta-analysis 9 10 12 14 . Emamalizadeh et al chose an Asian population in Iran 10 , therefore, all the included four studies were Asian populations.…”

Section: Resultsmentioning

confidence: 99%

Genetic association of RIT2 rs12456492 polymorphism and Parkinson’s disease susceptibility in Asian populations: a meta-analysis

Liu

Tan

et al. 2015

Sci Rep

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Recent studies investigating the association of the Ras-like without CAAX 2 (RIT2) polymorphism, rs12456492, with Parkinson’s disease (PD) are controversial. We performed a meta-analysis to study the association between rs12456492 and PD susceptibility in Asian populations. Literature searches of PubMed and Embase were performed up to June 3, 2015, and the strength of the association between rs12456492 and PD was evaluated by odds ratios (OR) and 95% confidence intervals (CI). Four studies conducted between 2013 and 2015, comprising 2017 PD cases and 2010 controls, were included in the meta-analysis. Significant association of rs12456492 with PD was found in the dominant (GG + AG vs. AA: OR = 1.26, 95% CI = 1.20–1.44, P = 0.00) and additive models (GG vs. AA: OR = 1.38, 95% CI = 1.03–1.83, P = 0.030). Although sensitivity analysis found that the overall result was stable only in the dominant genetic model, a publication bias was also detected. Therefore, the results should be treated with caution. The current meta-analysis suggested that rs12456492 might be associated with increased PD risk in Asian populations, but studies using larger sample sizes and different ethnic populations will be needed to further confirm this association.

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The RIT2 and STX1B polymorphisms are associated with Parkinson's disease

Cited by 26 publications

References 12 publications

The role of Ca2+ signaling in Parkinson's disease

The role of Ca2+ signaling in Parkinson's disease

Exploring Approaches for Detecting Protein Functional Similarity within an Orthology-based Framework

Genetic association of RIT2 rs12456492 polymorphism and Parkinson’s disease susceptibility in Asian populations: a meta-analysis

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