SNP rs356219 of the α-synuclein (SNCA) gene is associated with Parkinson’s disease in a Chinese Han population

Pan, Fenghua; Hua, Dong; Ding, Hu; Ye, Min; Liu, Weiguo; Wu, Yanfeng; Zhang, Xueling; Chen, Zhuo-you; Luo, Yang; Ding, Xinyuan

doi:10.1016/j.parkreldis.2012.01.025

Cited by 24 publications

(14 citation statements)

References 13 publications

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“…Some of the 52 risk genes identified in the present study have been implicated in the progression of PD, including SNCA (39). Deficiencies in complex I of the respiratory chain are frequent causes of mitochondrial diseases, and have been associated with PD (40).…”

Section: Discussionmentioning

confidence: 73%

Systematic analysis of microarray datasets to identify Parkinson's disease-associated pathways and genes

Feng¹,

Wang²

2017

Molecular Medicine Reports

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In order to investigate commonly disturbed genes and pathways in various brain regions of patients with Parkinson's disease (PD), microarray datasets from previous studies were collected and systematically analyzed. Different normalization methods were applied to microarray datasets from different platforms. A strategy combining gene co-expression networks and clinical information was adopted, using weighted gene co-expression network analysis (WGCNA) to screen for commonly disturbed genes in different brain regions of patients with PD. Functional enrichment analysis of commonly disturbed genes was performed using the Database for Annotation, Visualization, and Integrated Discovery (DAVID). Co-pathway relationships were identified with Pearson's correlation coefficient tests and a hypergeometric distribution-based test. Common genes in pathway pairs were selected out and regarded as risk genes. A total of 17 microarray datasets from 7 platforms were retained for further analysis. Five gene coexpression modules were identified, containing 9,745, 736, 233, 101 and 93 genes, respectively. One module was significantly correlated with PD samples and thus the 736 genes it contained were considered to be candidate PD-associated genes. Functional enrichment analysis demonstrated that these genes were implicated in oxidative phosphorylation and PD. A total of 44 pathway pairs and 52 risk genes were revealed, and a risk gene pathway relationship network was constructed. Eight modules were identified and were revealed to be associated with PD, cancers and metabolism. A number of disturbed pathways and risk genes were unveiled in PD, and these findings may help advance understanding of PD pathogenesis.

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Section: Discussionmentioning

confidence: 73%

Systematic analysis of microarray datasets to identify Parkinson's disease-associated pathways and genes

Feng¹,

Wang²

2017

Molecular Medicine Reports

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“…We found a significantly higher frequency of the G-rs356219 and C-rs2736990 risk alleles in patients with earlier onset compared to controls. Similarly, case-control studies in Germanic (Brockmann et al, 2013) and Chinese (Pan et al, 2012) samples showed that G-rs356219 and C-rs2736990 alleles significantly contributed to earlier age onset. In contrast, a lack of association was observed in Italians (Trotta et al, 2012) and North Americans (Mata et al, 2011; Heckman et al, 2012), which suggest the participation of other modifying factors in age onset across different populations.…”

Section: Discussionmentioning

confidence: 92%

Variants in SNCA Gene Are Associated with Parkinson’s Disease Risk and Cognitive Symptoms in a Brazilian Sample

Campêlo

Cagni

Figueredo

et al. 2017

Front. Aging Neurosci.

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Genetic susceptibility contributes to the etiology of sporadic Parkinson’s Disease (PD) and worldwide studies have found positive associations of polymorphisms in the alpha-synuclein gene (SNCA) with the risk for PD. However, little is known about the influence of variants of SNCA in individual traits or phenotypical aspects of PD. Further, there is a lack of studies with Latin-American samples. We evaluated the association between SNCA single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs – rs2583988, rs356219, rs2736990, and rs11931074) and PD risk in a Brazilians sample. In addition, we investigated their potential interactions with environmental factors and specific clinical outcomes (motor and cognitive impairments, depression, and anxiety). A total of 105 PD patients and 101 controls participated in the study. Single locus analysis showed that the risk allele of all SNPs were more frequent in PD patients (p < 0.05), and the associations of SNPs rs2583988, rs356219, and rs2736990 with increased PD risk were confirmed. Further, the G-rs356219 and C-rs2736990 alleles were associated with early onset PD. T-rs2583988, G-rs356219 and C-2736990 alleles were significantly more frequent in PD patients with cognitive impairments than controls in this condition. In addition, in a logistic regression model, we found an association of cognitive impairment with PD, and the practice of cognitive activity and smoking habits had a protective effect. This study shows for the first time an association of SNCA polymorphism and PD in a South-American sample. In addition, we found an interaction between SNP rs356219 and a specific clinical outcome, i.e., the increased risk for cognitive impairment in PD patients.

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“…Further, mir-7 and mir-153 were associated with SNCA mRNA expression in human studies [23, 24]. The SNP rs356219 showed a robust association as a common susceptibility marker in twelve studies with patients from Russia [44], Germany [46, 80], Spain [58, 59], Japan [52], China [53], USA [28, 65], United Kingdom [78], and Netherlands [73]. Similarly, the SNP rs11931074 showed a significant association with increased PD risk in seven studies, four of which were performed in Chinese samples [32, 34, 39, 40].…”

Section: Snps and The Risk For Parkinson's Diseasementioning

confidence: 99%

Genetic Variants in SNCA and the Risk of Sporadic Parkinson’s Disease and Clinical Outcomes: A Review

Campêlo

Silva

2017

Parkinson's Disease

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There is increasing evidence of the contribution of genetic susceptibility to the etiology of Parkinson's disease (PD). Genetic variations in the SNCA gene are well established by linkage and genome-wide association studies. Positive associations of single nucleotide polymorphisms (SNPs) in SNCA and increased risk for PD were found. However, the role of SNCA variants in individual traits or phenotypes of PD is unknown. Here, we reviewed the current literature and identified 57 studies, performed in fourteen different countries, that investigated SNCA variants and susceptibility to PD. We discussed the findings based on environmental factors, history of PD, clinical outcomes, and ethnicity. In conclusion, SNPs within the SNCA gene can modify the susceptibility to PD, leading to increased or decreased risk. The risk associations of some SNPs varied among samples. Of notice, no studies in South American or African populations were found. There is little information about the effects of these variants on particular clinical aspects of PD, such as motor and nonmotor symptoms. Similarly, evidence of possible interactions between SNCA SNPs and environmental factors or disease progression is scarce. There is a need to expand the clinical applicability of these data as well as to investigate the role of SNCA SNPs in populations with different ethnic backgrounds.

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SNP rs356219 of the α-synuclein (SNCA) gene is associated with Parkinson’s disease in a Chinese Han population

Cited by 24 publications

References 13 publications

Systematic analysis of microarray datasets to identify Parkinson's disease-associated pathways and genes

Systematic analysis of microarray datasets to identify Parkinson's disease-associated pathways and genes

Variants in SNCA Gene Are Associated with Parkinson’s Disease Risk and Cognitive Symptoms in a Brazilian Sample

Genetic Variants in SNCA and the Risk of Sporadic Parkinson’s Disease and Clinical Outcomes: A Review

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