Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system.

Publication date: Jul 15, 2023

Neurodegenerative diseases, including Alzheimer’s and Parkinson’s disease, are devastating complex diseases resulting in physical and psychological burdens on patients and their families. There have been important efforts to understand their genetic basis leading to the identification of disease risk-associated loci involved in several molecular mechanisms, including immune-related pathways. Regional, in contrast to genome-wide, genetic correlations between pairs of immune and neurodegenerative traits have not been comprehensively explored, but could uncover additional immune-mediated risk-associated loci. Here, we systematically assess the role of the immune system in five neurodegenerative diseases by estimating regional genetic correlations between these diseases and immune-cell-derived single-cell expression quantitative trait loci (sc-eQTLs). We also investigate correlations between diseases and protein levels. We observe significant (FDR 

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Concepts Keywords
Alzheimer Alzheimer
Genome Associated
Immune Cell
Neurodegenerative Correlations
Relationships Diseases


Type Source Name
disease MESH neurodegenerative disease
pathway REACTOME Immune System
disease MESH Neurological Disorders
disease MESH Stroke
drug DRUGBANK Coenzyme M
disease MESH amyotrophic lateral sclerosis
pathway KEGG Amyotrophic lateral sclerosis
disease MESH death
disease MESH pathogenesis
drug DRUGBANK Trestolone
disease MESH Lewy Body Dementia
drug DRUGBANK L-Tyrosine
drug DRUGBANK Zinc
disease MESH Histocompatibility
disease MESH Frontotemporal dementia
disease MESH Schizophrenia
disease MESH Multiple sclerosis
disease MESH Ulcerative colitis
disease MESH dementias
disease MESH point mutations
disease MESH inflammation
drug DRUGBANK Esomeprazole
drug DRUGBANK Aspartame
disease MESH infectious diseases
disease MESH brain inflammation
drug DRUGBANK Ranitidine
disease MESH late onset disorders
drug DRUGBANK Trifluoro-thiamin phosphate
disease MESH Parkinson disease
pathway KEGG Parkinson disease
drug DRUGBANK Cholesterol
drug DRUGBANK Nilotinib
disease MESH Alzheimer disease
pathway KEGG Alzheimer disease
disease MESH autoimmune diseases
pathway KEGG Lysosome
pathway KEGG Mitophagy
disease MESH cancer
disease MESH amyloid plaques
disease MESH autoimmunity
disease MESH tauopathy
pathway KEGG Autophagy
disease MESH colitis
disease MESH inflammatory bowel disease
pathway KEGG Inflammatory bowel disease
drug DRUGBANK Tropicamide
drug DRUGBANK Diethylstilbestrol
disease MESH Multiple System Atrophy

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