Session Information
Date: Monday, October 8, 2018
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Hall 3FG
Objective: The aim of the study was to investigate the relationship between 12 single nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in Chinese population.
Background: Genetic factors play an important role in the pathogenesis of PD. With the help of genome-wide association studies (GWAS), a lot of PD-associated locus, such as LRRK2, were discovered. Recently, using meta-analysis of GWAS, several PD risk loci have been identified. These data they used mainly focused on Caucasians, so we cannot infer distributions of these loci in Asian because of different allele frequencies across ethnicities. In this study, we try to replicate these loci and discuss those genes associated with PD in southern Chinese population.
Methods: A total of 250 PD patients and 240 healthy controls were recruited. SNaPshot technique was used to detect 12 single nucleotide polymorphisms (SNPs). The following SNPs were tested: rs2694528 of ELOVL7, rs9468199 of ZNF184, rs10906923 of FAM171A1, rs591323 of FGF20, rs78738012 of ANK2, rs11343 of COQ7, rs8005172 of GALC, rs7077361 of ITGA8, rs11868035 of SREBF/RAI1, rs34016896 of NMD3, rs2280104 of SORBS3/PDLIM2/C8orf58/BIN3, rs4784227 of TOX3. SNaPshot technique was used to genotype SNPs.
Results: Our study found that rs8005172 of GALC, rs9468199 of ZNF184 and rs2280104 were associated with PD. (rs8005172: p = 0.009, OR = 1.43, allele model, p = 0.022, additive model, p = 0.015, OR = 2.17, dominant model, p = 0.047, OR = 0.58, recessive model after adjusting, p = 0.036, OR = 1.75, overdominant model; rs9468199: p = 0.008, OR = 1.52, allele model, p = 0.007, additive model, p = 0.007, OR = 0.22, recessive model; rs2280104: p = 0.024, OR = 0.54, overdominant model) However, none remained after Bonferroni correction.
Conclusions: Our study revealed that rs8005172 of GALC and rs9468199 of ZNF184 were associated with PD in southern Chinese population. Besides, trends of association between PD and ITGA8, NMD3 and FGF20 were also found. More larger sized cohort studies are warranted.
To cite this abstract in AMA style:
G. Li, J. Liu, S.S. Cui, J.J. Du, P.C. Zhang, J.F. Ma, S.D. Chen. Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/association-of-galc-znf184-and-rs2280104-with-pd-in-southern-chinese/. Accessed May 9, 2025.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/association-of-galc-znf184-and-rs2280104-with-pd-in-southern-chinese/