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)

Study Objectives: The aim of the study was to investigate the relationship between 22 single nucleotide polymorphisms (SNPs) and Parkinson's disease (PD) in the Chinese population. Methods: A total of 250 PD patients and 240 healthy controls were recruited. The SNaPshot technique and the polymer chain reaction were used to detect 22 SNPs. Results: rs8005172 of GALC, rs9468199 of ZNF184 and rs34043159 of IL1R2, were associated with PD (rs8005172: p = 0.009, OR = 0.69, allele model, p = 0.010, additive model, p = 0.015, OR = 2.17, dominant model; p = 0.020, OR = 2.11, dominant model after adjustment; p = 0.036, OR = 1.47, recessive model after adjustment; rs9468199: p = 0.008, OR = 1.52, allele model, p = 0.008, additive model, p = 0.007, OR = 0.22, recessive model, p = 0.005, OR = 0.20, recessive model after adjustment; rs34043159: p = 0.034, OR = 1.31, allele model, p = 0.036, additive model). Conclusion: Our study revealed that GALC, ZNF184, and IL1R2 were associated with PD in the southern Chinese population. GALC was also associated with LOPD. ELOVL7 and ZNF184 were associated with EOPD. In addition, trends of association to PD, between SATB1, NMD3, and FGF20, were also found. Statement of Significance: Genetic play an important role in the pathogenesis factors of Parkinson's disease (PD). We found that GALC, ZNF184, and IL1R2 were associated with PD. GALC was also associated with late onset of PD, while ELOVL7 and ZNF184 were associated with early onset PD. This study is the first to find an association between GALC, ZNF184, and rs2280104 with PD.
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PMID:Association of GALC, ZNF184, IL1R2 and ELOVL7 With Parkinson's Disease in Southern Chinese. 3061 9

The molecular mechanisms underlying caudal-to-rostral progression of Lewy body pathology in Parkinson's disease remain poorly understood. Here, we identified transcriptomic signatures across brain regions involved in Braak Lewy body stages in non-neurological adults from the Allen Human Brain Atlas. Among the genes that are indicative of regional vulnerability, we found known genetic risk factors for Parkinson's disease: SCARB2, ELOVL7, SH3GL2, SNCA, BAP1, and ZNF184. Results were confirmed in two datasets of non-neurological subjects, while in two datasets of Parkinson's disease patients we found altered expression patterns. Co-expression analysis across vulnerable regions identified a module enriched for genes associated with dopamine synthesis and microglia, and another module related to the immune system, blood-oxygen transport, and endothelial cells. Both were highly expressed in regions involved in the preclinical stages of the disease. Finally, alterations in genes underlying these region-specific functions may contribute to the selective regional vulnerability in Parkinson's disease brains.
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PMID:Transcriptomic signatures of brain regional vulnerability to Parkinson's disease. 3213 96