Objective: We aimed to identify the genomic variants that are associated with cognitive impairment in patients with Parkinson’s disease (PD).

Background: Cognitive impairment is an important nonmotor symptom in PD. There is no convincing biomarker to predict the development of cognitive impairment in patients with PD.

Method: Genomic data was produced in patients with PD (N=1,021), using the Korean Chip (K-CHIP), Affymetrix Axiom KORV1.1 (variants number of 827,400), which contains imputation genome-wide association study (GWAS) grid and other GWAS loci, functional variants of nonsynonymous exome, 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 according to the scores of Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA).

Results: One intronic variant in Chromosome 1 (OR=3.11, CI=1.91-5.06, P=4.75Í10-6) showed the most significant association with the lower scores of MMSE (score < 26) in PD patients. One intronic variant in Chromosome 17 (OR=2.03, CI=1.49-2.77, P=7.95Í10-6) showed the most significant association with the lower scores of MoCA (score < 24) in PD patients. Several other variants showed associations with lower scores of MMSE or MoCA, but all variants with nominal significant association did not remain significant after Bonferroni correction.

Conclusion: This study suggests new loci associated with lower scores of cognitive screening tests in patients with PD.  Further studies are needed to confirm our findings using more comprehensive neuropsychological tests.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genomic-variants-associated-with-cognitive-impairment-in-parkinsons-disease-ethnicity-specific-gwas/