Session Information
Date: Monday, September 23, 2019
Session Title: Genetics
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: Considering the overlap in clinical manifestations, genetic findings and pathological hallmark between PD and MSA, we aimed to study the association between these 3 LncRNA-associated single nucleotide polymorphisms (SNP) and PD and MSA in a large Chinese population.
Background: Parkinson’s disease(PD) and multiple system atrophy(MSA) belong to the α- sycleinopathy family, which have some clinical manifestations, pathological findings and genetic background in common. The exact pathogenesis of neurodegenerative diseases such as PD and MSA remains unclear yet. Recent Genome Wide Association Study(GWAS) found 3 LncRNA-associated Single Nucleotide Polymorphisms(SNPs） associated with PD in German and US population, including SCNN1A rs10849446, SPTLC3 rs6041636, and rs627354. However, no following study in the Chinese population has been conducted yet.
Method: A total of 470 MSA patients and 1500 PD patients admitted to Department of Neurology, West China Hospital from June 2009 to June 2016 were recruited in the current study. Genomic DNA was collected from peripheral blood leukocytes via standard phenol-chloroform procedures. The PCR products of all the three SNPs were directly genotyped using a Sequenom iPLEX Assay (Sequenom iPLEX Assay, San Diego).
Results: There were no significant differences in the genotype distributions, minor allele frequency(MAF) and different genetic models of rs1084944，rs6041636 and rs627354 between PD and HC ,as well as between MSA and HCs after age and sex adjustment. In addition, no significant differences in the genotype distributions, MAF and different genetic models of the 3 SNPs were observed between subgroups regarding PD and MSA subtypes.
Conclusion: In conclusion, we did not replicate the genetic association between 3 Caucasian GWAS-linked variants: SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and 2 α-synucleinopathies: PD and MSA. This discrepancy can be partly explained by genetic heterogeneity between different ethnic background.
To cite this abstract in AMA style:
XJ. Gu, YP. Chen, RW. Ou, B. Cao, HF. Shang. Association analysis between SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and Parkinson’s disease and multiple system atrophy in a large Chinese population [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/association-analysis-between-scnn1a-rs10849446-sptlc3-rs6041636-and-rs627354-and-parkinsons-disease-and-multiple-system-atrophy-in-a-large-chinese-population/. Accessed November 21, 2024.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/association-analysis-between-scnn1a-rs10849446-sptlc3-rs6041636-and-rs627354-and-parkinsons-disease-and-multiple-system-atrophy-in-a-large-chinese-population/