Demis A. Kia

Exploring the Role of Plasma Lipids and Statins Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study

This study uses Mendelian randomization to investigate the causal role of lipids and statin interventions on multiple sclerosis risk and severity, finding HDL-C increases risk while RAC2 reduces it.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at Chr16q11.2 and on the MAPT H1 allele

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

Finding drug targeting mechanisms with genetic evidence for Parkinson's disease -- Mendelian randomization of the druggable genome

This study uses Mendelian randomization to identify 23 potential drug targeting mechanisms for Parkinson's disease, including four drug repurposing opportunities and two drugs that may increase PD risk.

Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

The Parkinsons Disease Mendelian Randomization Research Portal

This paper applies Mendelian randomization to identify causal factors for Parkinson's disease using 5,839 exposures and reports twelve causal associations, including adiposity.

Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes

This paper integrates eQTL and Parkinson’s disease GWAS data to identify 11 disease genes and pathways involved in PD risk through colocalisation, TWAS, and network analysis.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.