Unknown

Dataset Information

0

Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.

ABSTRACT: Genetic variation of the alpha-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson's disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37-0.84) and the 3'UTR of the gene (rs356165; OR: 1.67, 95% CI: 1.08-2.58). Given previous reports of association a collaborative effort is required which may exploit global linkage disequilibrium patterns for SNCA and standardise polymorphic markers used in each population. It is now crucial to identify the susceptibility allele and elucidate its functionality which may generate a therapeutic target for PD.

SUBMITTER: Ross OA 

PROVIDER: S-EPMC2970620 | biostudies-literature | 2007 May-Jun

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.

Ross Owen A OA   Gosal David D   Stone Jeremy T JT   Lincoln Sarah J SJ   Heckman Michael G MG   Irvine G Brent GB   Johnston Janet A JA   Gibson J Mark JM   Farrer Matthew J MJ   Lynch Timothy T  

Mechanisms of ageing and development 20070424 5-6

Genetic variation of the alpha-synuclein gene (SNCA) is known to cause familial parkinsonism, however the role of SNCA variants in sporadic Parkinson's disease (PD) remains elusive. The present study identifies an association of common SNCA polymorphisms with disease susceptibility in a series of Irish PD patients. There is evidence for association with alternate regions, of protection and risk which may act independently/synergistically, within the promoter region (Rep1; OR: 0.59, 95% CI: 0.37-  ...[more]

Similar Datasets

Unknown Alpha-synuclein and familial Parkinson's disease.
| S-EPMC3397145 | biostudies-literature
Unknown Salivary total α-synuclein, oligomeric α-synuclein and SNCA variants in Parkinson's disease patients.
| S-EPMC4917865 | biostudies-literature
Unknown Alpha-synuclein repeat variants and survival in Parkinson's disease.
| S-EPMC4172351 | biostudies-literature
Unknown Extracellular Alpha-Synuclein Oligomers Induce Parkin S-Nitrosylation: Relevance to Sporadic Parkinson's Disease Etiopathology.
| S-EPMC6334739 | biostudies-literature
Unknown Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 --> Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice.
| S-EPMC124407 | biostudies-literature
Unknown Alpha-Synuclein mRNA Is Not Increased in Sporadic PD and Alpha-Synuclein Accumulation Does Not Block GDNF Signaling in Parkinson's Disease and Disease Models.
| S-EPMC5628770 | biostudies-literature
Unknown Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
| S-EPMC4055791 | biostudies-literature
Transcriptomics Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on alpha-synuclein
2014-12-19 | E-GEOD-64304 | biostudies-arrayexpress
Unknown Olfactory Dysfunction in Familial and Sporadic Parkinson's Disease.
| S-EPMC7273509 | biostudies-literature
Unknown Evaluation of Rare and Common Variants from Suspected Familial or Sporadic Nasopharyngeal Carcinoma (NPC) Susceptibility Genes in Sporadic NPC.
| S-EPMC6774819 | biostudies-literature