SNCA, LRRK2, MAPT polymorphisms and Parkinson's disease in Russia

Anton, Emil; Andoskin, P.; Yakimovskii, A. F.; Usenko, T.; Нужный, Е. П.; Николаев, Михаил; Pchelina, Sofya

doi:10.1016/j.parkreldis.2013.06.003

Cited by 12 publications

(5 citation statements)

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“…Two major linkage disequilibrium blocks in SNCA gene had been proposed (Mueller et al, 2005; Myhre et al, 2008): a 5′ block that extends to promoter-enhancer region to exon 4 and a 3′ block that comprises intron, 3′ untranslated region, and the 3′ end region of the gene. Associations between SNPs rs2583988 in 5′ region (Pals et al, 2004; Winkler et al, 2007; Heckman et al, 2012; Trotta et al, 2012), rs2736990 in intron 4 (Mata et al, 2011; Heckman et al, 2012; Miyake et al, 2012; Alieva et al, 2013; Guo et al, 2014; Davila-Ortiz de Montellano et al, 2016), rs356219 (Lazzarini et al, 1994; Mata et al, 2010, 2011; Botta-Orfila et al, 2011; Wider et al, 2011; Trotta et al, 2012; Brockmann et al, 2013; Emelyanov et al, 2013), and rs11931074 (Gao et al, 2012; Wu-Chou et al, 2013) in 3′ end were demonstrated by recent studies. A meta-analysis confirmed the risk association of rs2583988, rs356219, and rs11931074 variants and PD susceptibility, performed in dominant and recessive genetic models (Han et al, 2015).…”

Section: Discussionmentioning

confidence: 89%

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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Section: Discussionmentioning

confidence: 89%

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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“…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%

“…Despite the fact that ethnic differences can preclude the generalization of the results in genetic studies, many of the SNPs showed similar effects in groups with different genetic backgrounds. For example, the SNP rs356219 remained an important risk factor for PD in studies performed within North American [65], Spanish [63], Russian [44], and Chinese [41] populations. Nevertheless, given the significance of results and perspectives of clinical advancement, it seems necessary to extend these investigations to other continents, in order to confirm whether these genetic effects are consistent across different populations and to verify the implications of between-population heterogeneity.…”

Section: Genetical Background Ethnicity and The Effect Of Snca Snpsmentioning

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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“…The rs356219 have been widely reported in the previous studies, but the study results obtained from these studies were inconsistent results. Among them, the SNP rs356219 was the more investigated, and most studies 15,33,34 indicated that rs356219 was associated with increased PD risk, but the negative results also existed in this topic in Taiwanese 17 and Japanese populations 26 …”

Section: Discussionmentioning

confidence: 99%

Interaction between SNCA gene polymorphisms and T2DM with Parkinson’s disease

et al. 2020

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To investigate the association of several single nucleotide polymorphisms (SNPs) within alpha-synuclein (SNCA) gene and additional gene-environment interaction with Parkinson's disease (PD) risk. Methods: Hardy-Weinberg equilibrium (HWE) is tested for controls using SNPstats (http://bioin fo.iconc ologia.net/SNPstats). Logistic regression is used to calculate the ORs (95% CI) for relations between the four SNPs and PD risk. The generalized multifactor dimensionality reduction (GMDR) model is used to evaluate the synergy between gene and environment. Results: A total of 1161 people were included in this study, including 386 cases of PD and 775 normal controls. In this study, the genotype frequency of the control group was consistent with HWE distribution. Rs356219-G allele frequency was 30.0% in patients and 19.8% in control group. The rs356221-T allele frequency was 29.7% in the patients and 20.8% in the control group. Rs356219-G and rs356221-T alleles were associated with increased PD risk, with adjusted ORs (95% CI) of 1.92 (1.28-2.52) and 1.52 (1.05-2.02), respectively. We also found no significant correlation between rs2301134 and rs2301135 and susceptibility to PD. The best gene-environment interaction models were determined by GMDR analysis, which shown a significant gene-T2DM interaction combinations, but the gene-alcohol drinking interaction combinations were all not significant. We also conducted stratified analysis for interaction effect using logistic regression. We found that T2DM patients with rs356221-AT/ TT genotype have the highest PD risk, compared to subjects with rs356219-AA genotype, OR (95%CI) = 2.67 (1.83-3.46). Conclusions: The rs356219-G and rs356221-T, gene-environment interaction between rs356221 and T2DM were all associated with increased PD risk.

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SNCA, LRRK2, MAPT polymorphisms and Parkinson's disease in Russia

Cited by 12 publications

References 5 publications

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

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

Interaction between SNCA gene polymorphisms and T2DM with Parkinson’s disease

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