JAMIR-eQTL

JAMIR-eQTL identifies genome-wide microRNA expression quantitative trait loci (miR-eQTLs) by integrating genotype and serum miRNA expression data from 3,448 Japanese samples across six dementia types (Alzheimer's disease, dementia with Lewy bodies, vascular dementia, frontotemporal lobar degeneration, normal-pressure hydrocephalus, and mild cognitive impairment).

Key Features:

• Systematic miR-eQTL mapping: Identifies genome-wide cis- and trans-miR-eQTLs using genotype and serum miRNA expression data from 3,448 Japanese samples.
• Cis and trans statistics: Reports 2,487 cis-miR-eQTLs and 3,155,773 trans-miR-eQTLs at a false discovery rate < 0.05.
• Multi-dementia analysis: Covers six dementia types (Alzheimer's disease, dementia with Lewy bodies, vascular dementia, frontotemporal lobar degeneration, normal-pressure hydrocephalus, and mild cognitive impairment) for comparative studies.
• Comparative specificity assessment: Examines commonality and specificity of miR-eQTLs among dementia types to support discovery of deleterious or disease-associated variants.
• Regulatory classification: Distinguishes between cis-acting (local) and trans-acting (distant) regulatory effects on miRNA expression.

Scientific Applications:

• Genetic regulation of miRNA expression: Link genetic variants to miRNA expression changes to elucidate the genetic basis of miRNA regulation in dementia.
• Disease-specific and shared variant discovery: Prioritize candidate deleterious or disease-associated variants by comparing miR-eQTLs across dementia types.
• Neurogenetics and mechanism exploration: Enable investigations into molecular mechanisms by which genetic variation influences miRNA expression in dementia pathogenesis.

Methodology:

Integrates genotype and serum miRNA expression profiles from 3,448 Japanese samples, applies a computational pipeline to identify genome-wide cis- and trans-miR-eQTLs (distinguishing cis-acting and trans-acting effects), and conducts comparative analyses across six dementia types to characterize shared and unique genetic influences on miRNA expression.