Table 3 The 10 most significantly up and downregulated ‘generic’ pathways in HD versus control blood GSEA.

From: Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

Direction of dysregulation in HD

Pathway

Number of dysregulated genes

p (combined)

q (combined)

p (Track-HD)

p (Leiden)

Description

Upregulated

MGI: 2419

434

3.03E-10

4.32E-06

5.10E-05

3.01E-05

Abnormal Innate Immunity

MGI: 3009

432

5.78E-09

4.13E-05

5.96E-06

1.65E-04

Abnormal Cytokine Secretion

GO: 50792

117

2.59E-08

1.23E-04

1.12E-02

7.24E-05

Regulation Of Viral Process

GO: 9615

208

1.22E-07

4.36E-04

3.06E-02

5.34E-06

Response To Virus

MGI: 2451

278

1.68E-07

4.80E-04

1.26E-02

9.51E-06

Abnormal Macrophage Physiology

GO: 19221

308

2.38E-07

5.45E-04

4.60E-05

1.71E-04

Cytokine-Mediated Signaling Pathway

GO: 2252

365

3.10E-07

5.45E-04

7.01E-03

1.14E-04

Immune Effector Process

MGI: 5025

406

3.44E-07

5.45E-04

5.91E-05

2.02E-04

Abnormal Response To Infection

MGI: 1793

372

4.33E-07

5.82E-04

5.93E-05

2.42E-04

Altered Susceptibility To Infection

MGI: 8568

305

4.49E-07

5.82E-04

4.79E-05

6.25E-05

Abnormal Interleukin Secretion

Downregulated

GO: 8380

282

5.22E-08

7.45E-04

4.25E-05

7.24E-05

RNA splicing

GO: 6397

359

2.38E-07

1.70E-03

1.48E-04

4.14E-04

mRNA processing

GO: 16887

329

1.37E-06

5.48E-03

1.96E-04

3.34E-02

ATPase activity

GO: 6200

333

1.54E-06

5.48E-03

2.42E-04

3.36E-02

ATP catabolic process

GO: 46034

361

5.36E-06

1.53E-02

1.74E-04

4.45E-02

ATP metabolic process

GO: 16607

144

9.06E-06

2.15E-02

4.68E-04

4.61E-03

Nuclear speck

GO: 6281

356

1.66E-05

2.75E-02

2.00E-03

1.18E-04

DNA repair

GO: 16604

271

2.08E-05

2.75E-02

5.59E-03

2.46E-03

Nuclear Body

GO: 4386

135

2.12E-05

2.75E-02

2.83E-02

4.81E-02

Helicase Activity

GO: 375

184

2.40E-05

2.86E-02

1.14E-03

2.05E-03

RNA splicing, via transesterification reactions

  1. A total of 14,706 Generic pathways, each containing between 3 and 500 genes, were collated from publicly-available databases including GO and KEGG. Pathways are significantly dysregulated after multiple testing correction (q < 0.05). Enrichment p values in the current study for the Track-HD, Leiden and combined datasets are shown.