Abstract Details

Title Neuroinflammation Genomic Markers in Genome-wide Association Study of Parkinson's Disease

Topic Movement Disorders

Presentation(s) P4 - Poster Session 4 (5:30 PM-6:30 PM)

Poster/Presentation
Number 3-005

Objective We aimed to investigate the association between genetic variants related to neuroinflammation and the risk of Parkinson’s disease (PD).

Background Neuroinflammation may contribute to the pathogenesis of neurodegeneration in PD because inflammation is a neuropathologic feature of patients with PD and it has been reported in experimental models of PD. However, the roles of genes related to inflammation in the development of PD has been unclear.

Design/Methods Study subjects included patients with PD (N=1,070) and healthy controls (N=5,000) who were unrelated and ethnic Koreans. Genomic data was produced by the Korean Chip (K-CHIP), Affymetrix Axiom KORV1.1 (variants number of 827,400), which contains the imputation GWAS grid (505,000 Asian-based grid), functional variants of nonsynonymous exome content (84,000 Korean-based grid and 149,000 cSNPs and InDels selected from 2,000 whole-exome sequencing and 400 whole-genome sequencing data that are polymorphic in Korean), pharmacogenetics variants, variants in genes involved in absorption, distribution, metabolism and excretion (ADME) of drugs, and expression quantitative trait loci (eQTL). Genomic analysis was performed after stringent sample and SNP quality controls. Genetic variants related to neuroinflammation were selected and specifically analyzed in PD cases and controls.

Results The HLA-A SNP rs12665039 the most significant association with PD (OR=1.28, CI=1.15-1.44, P =1.89Í10^-5). The HLA-DOB SNP rs2071469 was the second most significant loci (OR=0.83, CI=0.75-0.91, P =1.72Í10^-4). Other variants in Chromosome 6 and 11 showed nominally significant associations with PD, but those did not remain significant after Bonferroni correction.

Conclusions This GWAS suggests that genetic variants related to neuroinflammation may play potential roles in the development of PD.

Authors/Disclosures
Sun Ju Chung, MD, PhD, F�鶹��ýӳ�� (Neurology, Asan Medical Center) PRESENTER	Dr. Chung has nothing to disclose.
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Kye Won Park, MD (Uijeongbu Eulji University Hospital)	Dr. Park has nothing to disclose.

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