Table 2 LIME-identified genes with supporting evidence for implication in Parkinson disease

From: Neural networks reveal novel gene signatures in Parkinson disease from single-nuclei transcriptomes

Gene

Cell type identified by LIME

Supporting evidence

AK5

DaNeurons

•Nominally significant gene-level rare variant association with PD (p-value = 4.25e-2, beta = 6.87)

ARL17B

Astrocytes, microglia, oligodendrocytes

•Significant gene-level common variant association with PD (MAGMA p-value = 1.03e-8, z-statistic = 5.61)

•Cell type cis-eQTL co-locolization with WNT3 (astrocytes: PP = 0.98, beta = 1.22; microglia: PP = 0.98, beta = 1.29; oligodendrocytes: PP = 0.98, beta = 1.41)

BAG3

Oligodendrocytes

•GWAS PD-associated gene (Nalls et al. 2019: p-value = 2.00e-11, beta = 0.0763)

B2M

Microglia, oligodendrocytes, OPC

•Nominally significant gene-level common variant association with PD (MAGMA p-value = 2.55e-3, z-statistic = 2.8)

CACNA2D3

DaNeurons

•Nominally significant gene-level rare variant association with PD (p-value = 1.70e-3, beta = 3.77)

CHORDC1

Astrocytes, endothelial, microglia, oligo., OPC, pericytes

•Significant gene-level rare variant association with PD (p-value = 6.78e-8, beta = 8.73)

CIRBP

Oligodendrocytes

•Nominally significant gene-level common variant association with PD (MAGMA p-value = 3.03e-2, z-statistic = 1.88)

CRYAB

Astrocytes, endothelial, microglia, oligo., OPC, pericytes, neurons

•Nominally significant gene-level common variant association with PD (MAGMA p-value = 2.96e-2, z-statistic = 1.89)

GPC6

DaNeurons

•Significant gene-level rare variant association with PD (p-value = 7.67e-8, beta = 16.46)

MOBP

Microglia, oligodendrocytes

•Nominally significant gene-level common variant association with PD (MAGMA p-value = 9.27e-3, z-statistic = 2.35)

PAM

DaNeurons

•GWAS PD-associated gene (Nalls et al. 2019: p-value = 2.00e-09, beta = 0.0621)

SEMA5A

Neurons, DaNeurons

•Nominally significant gene-level rare variant association with PD (p-value = 2.23e-3, beta = 4.62)

SIPA1L2

Oligodendrocytes

•GWAS PD-associated gene (Nalls et al. 2019: p-value = 7.00e-17, beta = 0.1114; Kim et al. 2023: p-value = 1.00e-17, beta = 0.0269)

RIMS1

Astrocytes

•GWAS PD-associated gene (Nalls et al. 2019: p-value = 2.00e-10, beta = 0.0657; Kim et al. 2023: p-value = 7.00e-12, beta = 0.0208)

TMEM163

Microglia

•GWAS PD-associated gene (Nalls et al. 2019: p-value = 5.00e-14, beta = 0.0807; Kim et al. 2023: p-value = 5.00e-12, beta = 0.0400)

•Nominally significant gene-level common variant association with PD (MAGMA p-value = 1.81e-3, z-statistic = 2.91)

•Cell type cis-eQTL co-locolization with TMEM163 (microglia: PP = 0.99, beta = -0.47)

  1. DaNeurons dopaminergic neurons, eQTL expression quantitative trait loci, GWAS genome-wide association study, MAGMA Multi Marker Analysis of Genomic Annotation, PP posterior probability, OPC oligodendrocyte precursor cell, PD Parkinson disease.