Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recently, 17 new Parkinson's disease (PD) risk loci were identified in a genome-wide association studies meta-analysis in Caucasians; however, their association with PD in Chinese patients is largely unknown. Therefore, we performed a replication study of 5 of the most commonly identified candidate variants, including SORBS3 rs2280104, SCN3A rs353116, TOX3 rs4784227, GLAC rs8005172, and ZNF184 rs9468199, in a large sample of patients with PD (1506) and multiple system atrophy (MSA, 496) in a Chinese population. These 5 variants were found to not be associated with PD and MSA in the Chinese population. Our results suggest that these variants are not risk factors for PD or MSA in the Chinese population.
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PMID:No association between 5 new GWAS-linked loci in Parkinson's disease and multiple system atrophy in a Chinese population. 2969 Oct 93

Background: Parkinson's disease (PD) is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES) technology has been used successfully to find mutations in large families. However, because of the late onset of the disease, only small families and unrelated patients are usually available. WES conducted in such cases yields in a large number of candidate variants. There are currently a number of imperfect software tools that allow the pathogenicity of variants to be evaluated. Objectives: We analyzed 48 unrelated patients with an alleged autosomal dominant familial form of PD using WES and developed a strategy for selecting potential pathogenetically significant variants using almost all available bioinformatics resources for the analysis of exonic areas. Methods: DNA sequencing of 48 patients with excluded frequent mutations was performed using an Illumina HiSeq 2500 platform. The possible pathogenetic significance of identified variants and their involvement in the pathogenesis of PD was assessed using SNP and Variation Suite (SVS), Combined Annotation Dependent Depletion (CADD) and Rare Exome Variant Ensemble Learner (REVEL) software. Functional evaluation was performed using the Pathway Studio database. Results: A significant reduction in the search range from 7082 to 25 variants in 23 genes associated with PD or neuronal function was achieved. Eight (FXN, MFN2, MYOC, NPC1, PSEN1, RET, SCN3A and SPG7) were the most significant. Conclusions: The multistep approach developed made it possible to conduct an effective search for potential pathogenetically significant variants, presumably involved in the pathogenesis of PD. The data obtained need to be further verified experimentally.
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PMID:Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease. 2986 46