Alpha-synuclein gene (SNCA) polymorphisms have been associated with Parkinson's disease (PD). A recently published genome-wide association study (GWAS) meta-analysis from the USA and Europe found a strong association between SNCA rs356219 and PD. Considering the population-specific heterogeneity, we investigated the role of SNCA rs356219 as PD susceptibility in a large Han Chinese population of 685 patients and 569 controls. The SNCA rs356219-G allele was found to increase the risk to develop PD (OR = 1.81, 95% CI: 1.54-2.13, P = 5.71E-13). The meta-analysis revealed that the frequency of AG + GG genotypes higher in PD than in control subjects (OR = 1.85, 95% CI: 1.56-2.19, P = 0.00001) in the Asian population. PD patients with AG + GG genotypes were associated with earlier age at onset compared with those with AA genotype. No such significant association was observed in the clinical presentation for gender, age at onset, and onset symptoms. Our study provides strong support for the susceptibility role of SNCA rs356219 in sporadic PD in a Han Chinese population from mainland China and the meta-analysis also revealed a similar finding in the Asian population.
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http://dx.doi.org/10.1002/ajmg.b.32143 | DOI Listing |
Quant Imaging Med Surg
September 2024
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, China.
Background: The synuclein alpha () gene responsible for encoding alpha-synuclein, is believed to play a crucial role in the pathogenesis of Parkinson's disease (PD). However, the specific impact of gene single-nucleotide polymorphisms (SNPs) on brain function in PD remains unclear. Therefore, this cross-sectional retrospective study, particularly through use of imaging analysis, aimed to characterize the relationship between gene SNPs and spontaneous brain activity in PD in order to enhance our understanding of the mechanisms underlying PD pathogenesis.
View Article and Find Full Text PDFMetab Syndr Relat Disord
May 2024
Medical Centre Hospital of President's Affairs Administration of the Republic of Kazakhstan, Astana, Republic of Kazakhstan.
The prevalence of metabolic syndrome (MetS) in Kazakhstan reaches 40%. The presence of an association between certain genetic markers and the development of MetS will allow more accurately determining the cardiovascular risk for patients with hypertension and personalizing preventive recommendations. The purpose of the study was to investigate the presence of an associative relationship between various polymorphisms of the α-synuclein gene and the development of MetS in Kazakh people with high blood pressure.
View Article and Find Full Text PDFParkinsonism Relat Disord
October 2023
Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Badalona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address:
Introduction: Isolated REM sleep behavior disorder (IRBD) represents an early manifestation of the synucleinopathies Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Aggregation of abnormal α-synuclein and its increased expression in the brain is crucial in the development of the synucleinopathies. Whereas α-synuclein gene (SNCA) transcripts are overexpressed in brain, a concomitant reduction occurs in blood of DLB patients.
View Article and Find Full Text PDFInt J Environ Res Public Health
March 2022
Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, 25123 Brescia, Italy.
Environmental exposures to agrochemicals and nutritional factors may be associated with Parkinson's Disease (PD). None of the studies to date has examined the combined effects of diet and agricultural chemical exposure together. To address these research gaps, we aimed to assess the association of nutritional factors and agrochemical exposure with the risk of PD.
View Article and Find Full Text PDFMov Disord
May 2022
The Norwegian Center for Movement Disorders, Stavanger University Hospital, Stavanger, Norway.
Background: Common genetic variance in apolipoprotein E (APOE), β-glucocerebrosidase (GBA), microtubule-associated protein tau (MAPT), and α-synuclein (SNCA) has been linked to cognitive decline in Parkinson's disease (PD), although studies have yielded mixed results.
Objectives: To evaluate the effect of genetic variants in APOE, GBA, MAPT, and SNCA on cognitive decline and risk of dementia in a pooled analysis of six longitudinal, non-selective, population-based cohorts of newly diagnosed PD patients.
Methods: 1002 PD patients, followed for up to 10 years (median 7.
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