Session Information
Date: Monday, October 8, 2018
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Hall 3FG
Objective: To explore the relationship between two miRNA-linked variants (SPPLB rs1128402 and PDXK rs2070535) and two neurodegenerative diseases (PD and MSA) in a large Chinese population.
Background: Two miRNA-linked variants: rs1128402 in signal peptide peptidase like 2B gene(SPPLB) and rs2070535 in the pyrodoxal kinase gene(PDXK) were previously found to be associated with the risk of Parkinson’s disease (PD) in large Genome-Wide Association Studies conducted in Caucasian PD patients. However, these relationships have never been investigated in a Chinese population. Furthermore, these two polymorphisms also have not been investigated in multiple system atrophy (MSA), another α-Synucleinopathy which shares clinical, pathological and genetic features with PD.
Methods: A total of 1504 PD patients, 487 MSA patients, and 894 Healthy Controls(HCs) were directly genotyped for SPPLB rs1128402 and PDXK rs2070535 using Sequenom iPLEX Assay technology.
Results: Marginally significant differences were found in the genotype distributions and MAF of SPPLB rs1128402 between PD patients and HC when sex and age were controlled (adjusted p = 0.044 and 0.047, respectively), but the significance was not existing after bonferroni adjustment. The minor allele of SPPLB rs1128402 has the tendency to decrease the risk for developing PD in female (OR=0.84,95% CI=0.70-0.99). However, no association was found between SPPLB rs1128402 and MSA, as well as in the MSA subgroup analysis. Furthermore, no association was found in the genotype distribution and allele frequency between PDXK rs2070535 and PD as well as MSA.
Conclusions: SPPLB rs1128402 is marginally associated with the risk for PD. The minor allele of SPPLB rs1128402 is likely to decrease the risk for developing PD in the female. More studies in different ethnic are needed to verify these results.
To cite this abstract in AMA style:
X.J. Gu, Y.P. Chen, B. Cao, R.W. Ou, Q.Q. Wei, B. Zhao, Y. Wu, W. Song, H.F. Shang. Association analysis of miRNA-linked variants with Parkinson’s disease and multiple system atrophy in a large Chinese population [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/association-analysis-of-mirna-linked-variants-with-parkinsons-disease-and-multiple-system-atrophy-in-a-large-chinese-population/. Accessed June 14, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/association-analysis-of-mirna-linked-variants-with-parkinsons-disease-and-multiple-system-atrophy-in-a-large-chinese-population/